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 Table of Contents  
CASES
Year : 2022  |  Volume : 17  |  Issue : 5  |  Page : 204-278

Cases


Date of Web Publication26-Nov-2022

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0973-3698.362014

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How to cite this article:
,,. Cases. Indian J Rheumatol 2022;17, Suppl S1:204-78

How to cite this URL:
,,. Cases. Indian J Rheumatol [serial online] 2022 [cited 2023 Jan 31];17, Suppl S1:204-78. Available from: https://www.indianjrheumatol.com/text.asp?2022/17/5/204/362014




  CAS238 Top


Macrophage activation syndrome: A life threatening complication of systemic lupus erythematosus – A case report

Upasana Agarwal, S S Nelson; Department of Medicine, NSCB Medical College and Hospital, Jabalpur, Madhya Pradesh, India

Background: Macrophage Activation Syndrome (MAS) is a rare but potential fatal manifestation in patients of Systemic Lupus Erythematosus (SLE). The actual incidence of MAS is still unknown. The prevalence of MAS in SLE varies from 0.9 to 4.6%. Delayed diagnosis leads to increased mortality in these patients. This case reports 2 cases of MAS in diagnosed cases of SLE in Central India.

Discussion: MAS is a subset of hemophagocytic lymph histiocytosis (HLH). The clinical features include persistent high-grade fever, hepatosplenomegaly, lymphadenopathy, hemorrhagic manifestations and central nervous system dysfunction. It is caused by an imbalance of immune system leading to uninterrupted hyperstimulation of immune cells. We report 2 cases manifesting MAS in SLE. Both presented with long standing fever not relieved on antibiotics, hepatosplenomegaly with developing cytopenias over a short period of time with raised serum ferritin levels. Relative changes in complete blood counts with raised transaminases and raised serum ferritin levels. However, there were no hemorrhagic manifestations and central nervous system dysfunction found. The patients responded well to oral cyclosporine and other supportive management and were discharged on oral steroids.

Conclusion: Features of MAS simulate disease flare up in SLE, making the diagnosis challenging. Selecting a proper diagnostic criterion to diagnose MAS is essential. Relative changes in laboratory parameters along with strong clinical suspicion is the key to early diagnosis.


  CAS239 Top


Curious case of military shadows

Bodhisattwa Mishra, Sujata Devi, Anupam Dey, Debananda Sahoo, Nilanjan Kar, AIIMS, Bhubaneshwar, Odisha, India

Miliary shadowing in HRCT thorax although common in tuberculosis can also be rarely associated with autoimmune conditions. Here we present a curious case of military shadowing in an elderly female with diagnostic dilemma. A 59-year-old lady, without any comorbidities, came to our OPD with dry cough for 4 months with breathlessness on exertion. She had multiple small non matted lymph nodes in both cervical region and one large left axillary lymph node. On auscultation binasal inspiratory crept was heard. Outside echocardiography revealed DCMP with midrange ejection fraction. On high resolution CT scan thorax showed presence of bilateral patchy peripheral ground glass opacities with centrilobular nodules and mediastinal lymphadenopathy suggestive of viral pneumonia. Chronic medical renal disease was noted in ultrasound abdomen done outside. In spite of conservative management patients general condition worsened with time and repeat HRCT thorax demonstrated bilateral military shadows. Chest examination of the patient showed full bilateral crepitations. Patient was started on Antitubercular regimen in view of high clinical suspicion; however, her condition deteriorated further. Sputum and bronchoalveolar lavage CBNAAT came negative and further work up showed ANA positivity 2+ with SS-A and SSB in high titers with history corroborative of sicca syndrome with positive ocular staining score. Simultaneously left axillary lymph node biopsy showed granulomatous lymphadenitis with raised serum ACE. Considering strong suspicion of underlying autoimmune condition corticosteroid therapy was started with ATT. Within a span of 7 days, she started responding with treatment and repeat HRCT thorax revealed significant resolution of military shadowing. She was discharged on maintenance oral steroid and on follow up at 4 weeks showed complete resolution of symptoms.

Conclusion: This is a peculiar case of an autoimmune disorder masquerading as Tuberculosis. Raised ACE levels along with granulomatous lymphadenopathy and steroid response makes us think about Sarcoid. However Strong Ro la positivity with dry eye and lymphocytic infiltrate in lip might indicate Sjogren syndrome. Diagnostic dilemma remains and we may conclude it to be a case of military sarcoidosis with secondary Sjogren syndrome based on respond to steroid and non-respond to OPD.


  CAS240 Top


Pyrexia of unknown origin: A challenge to physicians

Vijay Kumar, Divendu Bhushan, Aniketh V Hegde, Vamshi K Patel; Department of Medicine, AIIMS, Patna, Bihar, India

Background: PUO in non-western countries are mainly due to infectious aetiology and Mycobacterium tuberculosis being responsible for more than half of these cases. Non-infectious inflammatory diseases being second most common cause of PUO.

Case Presentation: A 21-year-old male, presented with complaints of fever, joint pain for last 1 year with a weight loss of 15 kgs over past 6 months. General examination revealed Tachycardia, pallor, tenderness over proximal and Middle Interphalangeal joints, wrist joints, shoulder joints bilaterally and symmetrically. Other systemic examination was non-significant. Laboratory parameters showed neutrophilic leucocytosis with total WBC count of 29000 cells/mm3, Hb - 9.8 g%, Platelets - 1.97 lakh/mm3, RA factor - 8 IU/ml CRP – 283 mg/l, ESR - 112 mm/hr, normal Liver and Kidney function tests. ANA screening and profile Negative, Chest Xray- Normal, Blood cultures and urine cultures – sterile, CECT thorax and Abdomen showed hepatomegaly with minimal bilateral pleural effusion, Tuberculin skin testing was negative, IGRA was negative, Procalcitonin- 19.7 ng/ml. Based on Yamaguchi criteria Patient was diagnosed as a case of adult onset stills disease and was managed with Prednisolone 1 mg/kg after pulse dose of Methylprednisolone of 1 g for 3 days besides Methotrexate 15 mg once weekly and Hydroxychloroquine 200 mg twice daily. After 3 months, his joint pain resolved but he remained febrile. During the workup for planning to start biological particularly Anakinra, we decided to rule out any infective aetiology including chronic infection like tuberculosis. PET-CT scan was done which showed hypermetabolic activity in right sartorius muscle. USG guided aspiration of pus was done, and ZN staining of pus was positive for AFB. Anti-tuberculous drugs (4FDC) were started, Methotrexate and Hydroxychloroquine was continued. After 3 months resolution of symptoms was noted in both arthritis and fever.

Discussion: Adult onset stills disease is a diagnosis of exclusion manifesting with daily spiking fever of more than 102F, arthritis or arthralgia, Neutrophilic leucocytosis, non-pruritic macular or maculopapular rashes. Differential diagnosis usually includes viral infections, SLE, Autoinflammatory disorders, Drug reactions. Arthritis of the patient responded to steroids and DMARDs, but unresponsiveness of fever was attributed to underlying TB or development of TB secondary to immunosuppression.

Conclusion: This case report emphasizes on possibility of two pathologies as an underlying cause of PUO and need extensive investigations.


  CAS242 Top


Adult-onset still's disease: A disease late diagnosed, often missed

Medha Sohane, S S Nelson; Department of General Medicine, Netaji Subhash Chandra Bose Medical College and Hospital, Jabalpur, Madhya Pradesh, India

Background: Adult-onset Still's Disease (AOSD) is a disorder occasionally seen. It is an autoinflammatory condition causing systemic manifestations. We report the case of 2 young females who were being treated for fever and arthritis for a long time but got no relief. After thorough assessment of clinical manifestations and lab parameters, and absence of serologic markers, findings were confirmed on Yamaguchi Criteria. Patients were started on corticosteroids and got symptomatically better. Gradually dose of steroid was increased and Methotrexate was also added for complete remission.

Discussion: Adult-onset Still disease is in part a diagnosis of exclusion and frequently poses a diagnostic challenge. Some people may not have all the classical symptoms at once, which makes it difficult to diagnose the condition. Since the disease has some life-threatening complications, a detailed history, and physical examination is needed for patients when there is a suspicion for AOSD to prevent complications and improve the prognosis.

Conclusion: AOSD can be treated well if diagnosed early before development of complications. It is a diagnosis of exclusion, and diagnosis is often made by rheumatologists after referral from other physicians. So, awareness about the disease course and symptoms is essential in the field of rheumatology.


  CAS243 Top


Melioidotic arthritis – An obscure tropical malady

Jhasaketan Meher, Pranita, Vinay R Pandit, Sreehari V Anil; AIIMS, Raipur, Chhattisgarh, India

Background: Melioidosis is caused by gram-negative bacilli Burkholderia Pseudomallei with increasing incidence in tropical regions. Clinical presentation may vary from subclinical infection to pneumonia and severe sepsis. Here we report a rare presentation of Melioidosis in a diabetic as a febrile illness with arthritis.

Case: A 50 year farmer presented with fever, pain, and swelling over the right wrist for 1 month. He was a known diabetic with non-compliant with medication. On examination, he was febrile with stable vitals. Physical examination revealed swelling of the right wrist with tenderness on palpation [Figure 1]. Systemic examinations were unremarkable. Investigations revealed Hb - 9 mg/dl, TLC-11550/cumm, CRP- 109 mg/dl with normal liver and kidney function. Serology for Scrub Typhus, Leptospirosis, and dengue was negative. HIV, HbsAg, Anti-HCV, ANA, RF, and Anti-CCP were also negative. Ultrasound of the wrist showed synovial thickening with effusion tendinitis [Figure 2]. Piperacillin-tazobactam and Clindamycin were started with insulin and other supportive therapy. After a few days, he developed left knee arthritis. Synovial fluid aspiration showed inflammatory exudate. Blood culture showed Burkholderia Pseudomallei growth that was sensitive to Ceftazidime, and Cotrimoxazole but resistant to carbapenems. Hence, the antibiotic was switched to Ceftazidime. There was a defervescence of fever with improvement in arthritis over a few days. After 3-weeks, he was discharged with cotrimoxazole for 3 months.
Figure 1: Right wrist swelling

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Figure 2: Ultrasound of right wrist showing tenosynovitis

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Discussion: Melioidosis is now an emerging disease worldwide predominately in the tropics. Clinical presentation varies from asymptomatic or subclinical infection to pneumonia, sepsis, and multiorgan failure with high mortality (30-47%). Presentation as fever with arthritis is very uncommon. In an immunosuppressed state like diabetes is more susceptible to severe life-threatening infection.[1] Early diagnosis and proper antibiotic selection are of utmost importance as these bacteria are sensitive to only a few antibiotics like ceftazidime, and carbapenems.

Conclusion: Awareness among the physician (presentation of Melidiosis as septic arthritis) is of utmost importance so that early diagnosis can minimize morbidity and mortality.


  CAS244 Top


Cutaneous histoplasmosis on tofacitinib therapy

Nachiket Kulkarni; Consultant Rheumatologist, Jehangir Hospital, Pune, Maharashtra, India

Background: Tofacitinib is being use for widespread indications in Rheumatology and other autoimmune inflammatory diseases. We report a case of histoplasmosis in a patient on tafacitinib therapy. Histoplasmosis is a dimorphic fungus with potential to cause a systemic infection.

Case Objective: Reporting a case of cutaneous histoplasmosis in a patient on Tofacitinib for Undifferentiated connective tissue disorder.

Methods: Retrospective case record form analysis. Records from Inpatient and Out-patient department assessed. Site of study was tertiary level private medical facility.

Results: Colonoscopy revealed colonic inflammation of non-specific nature. Cyclosporine was initiated with glucocorticoids. Patient showed good response but had acute kidney injury with gingivitis in 4-5 weeks. He was switched to Tofacitib. Glucocorticoids were tapered. All symptoms abated in 4 weeks. Patient developed nodular painless lesions on face on 6th month of follow up. Biopsy of the lesion revealed Histoplasmosis.

Conclusion: Association of Histoplasmosis with Long term tofacitib therapy must be monitored in Indian setting.


  CAS245 Top


PUO: AOSD versus SLE – Diagnostic challenge

G Manikandan, John Mathew; Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India

Case Summary: 33-year-old female from chithoor presenting with fever, multiple lymphadenopathy (cervical and inguinal) hair loss, skin rash initially evanescent, later persistent, non- deforming inflammatory polyarthritis, with weight loss of 3 kg in one month. no other symptoms of ctd including Raynaud's phenomenon, malar rash, photosensitivity, muscle weakness. Evaluation showed microcytic hypochromic anemia with low iron levels and normal TIBC with elevated ferritin (33822 ng/ml), neutrophilic leucocytosis, Transaminitis (AST, ALT - 2 times elevation) proteinuria (24 hour urinary protein 522 mg) with negative ANA, normal compliments and dsdna. Skin biopsy was suggestive of urticarial vasculitis and bone marrow biopsy showing Cellular marrow with non-specific reactive changes with clusters of cells, histomorphology resembling macrophages. AOSD was suspected and started on naproxen initially, but fever didn't subside. In view proteinuria kidney biopsy was done which showed class 2 lupus nephritis with activity and chronicity score of 0. Blood culture, MGIT, XPERT TBPCR and CT abdomen and thorax were negative for infection including tuberculosis and malignancy. She was initiated on steroids (0.5 mg/kg) in tapering schedule and methotrexate as steroid sparing agent and losartan for antiproteinuric measures. Fever subsided and skin rashes, inflammatory arthritis resolved. She is on regular follow up.

Conclusion: This case highlights the diagnostic challenge in rheumatological diseases and shows the importance of strong clinical suspicion and role of kidney biopsy in establishing the diagnosis and appropriate treatment.


  CAS247 Top


Focal myositis: Is it diabetic myonecrosis or inflammatory myopathy?

Amrutha Varshani, Atlanta Borah, Gayathri Ranie, Chanaveerappa Bammigatti; Department of Medicine, JIPMER. Puducherry, India

Introduction: Focal myositis is a rare, benign inflammatory pseudotumor of the skeletal muscle of unknown etiology. Hereby, we present a case of focal myositis in a diabetic lady with biopsy features of inflammatory myopathy and a dramatic response to steroids.

Case Report: A 58-years lady, known to have Type 2 Diabetes, Hypertension, Chronic Kidney Disease, and Heart failure, presented with progressive pain and swelling of left thigh for 3 months and fever for 3 days. Examination revealed diffuse left thigh swelling with warmth. The left thigh circumference was 66 cm and the right thigh was 52 cm. Blood investigations revealed elevated blood urea (90 mg/dl) and creatinine (3.4 mg/dl), normal CPK, and LDH. Urine examination revealed 3+ protein but absent myoglobin. Ultrasonography of the left leg revealed heterogeneous, hypoechoic, and bulky vastus intermedius. MRI revealed subcutaneous, fascial, and muscle edema involving the left anterior and middle compartment of the left thigh. Muscle biopsy revealed effaced fascicular architecture with moderate variation in fiber size. There was myophagocytosis and myonecrosis. There were many atrophic fibers with myonuclear clumps. There was mild interstitial lymphohistiocytic inflammation. There was mild endomysial fibrosis. These features suggested inflammatory myopathy. The patient was managed with antibiotics and pain relief was not possible despite adequate doses of acetaminophen, NSAIDs, and IV morphine. In view of muscle biopsy findings, the patient was started on 1 mg/kg/day of prednisolone after which there was a progressive reduction in pain and swelling. After 2 months of follow-up, the patient's symptoms have drastically improved with almost disappearance of swelling.

Discussion: Many of these features may be seen in Diabetic Myonecrosis which presents with subacute pain, swelling and tenderness. It's usually associated with end organ damage and self-limiting or improves with NSAIDs.

Conclusion: Focal myositis is a rare disease of unknown aetiology with good response to steroids.


  CAS248 Top


Acute necrotising pancreatitis as the presenting feature in Sjogrens Syndrome

Rajiv Sitaula, Thurlapati Dileep, Meghna Kodavati, Amit Jaiswal, Varghese Koshy, Sharad Srivastava, Commando Hospital (Southern Command), Pune, Maharashtra, India

Background: Autoimmune exocrinopathy, including Pancreatitis, is becoming a more well-defined entity in Sjogrens Syndrome.

Objective: To highlight Acute Pancreatitis as a possible presenting feature of Sjogrens Syndrome.

Case Summary: 37 years old lady with no known prior comorbidities presented with acute onset severe pain in the epigastric region with multiple episodes of vomiting. Evaluation revealed raised Sr Amylase and lipase (635/2007 IU/L respectively, raised TLC count (14,800/cumm), and hypokalemia (2.6 meq/l). CECT abdomen and pelvis showed acute necrotizing pancreatitis with CTSI of 10/10. She was managed conservatively and discharged after 1 week of hospital stay. She again presented with pain abdomen at epigastric region radiating to back two months later. During this admission she was again documented to have hypokalemia with Distal Renal tubular acidosis. On revisiting history Sicca symptoms in the form of dry mouth and dry eyes was elicited. She was managed as a case of recurrent acute pancreatitis. CECT abdomen [Figure 1] showed peripancreatic fluid collection and walled off necrosis. Further evaluation showed normal anion gap metabolic acidosis and persistent hypokalemia consistent with distal Renal tubular acidosis (Urine: PH-7.36, HCO3- 11.7, Na-112.6, Chloride- 126.6). Etiological workup revealed ANA by IIF 3+, fine nuclear speckled pattern (dilution 1:80), SS-A and RO-52 strongly positive; SS-B positive; raised IgG level (24.8 gm/L) with normal IgG4, IgA, IgM, C3, C4 and CRP level. Viral markers – HIV, HBsAg and Anti HCV were non-reactive. Thyroid function test was within normal limit. Schirmer's test showed no features of conjunctival dryness (>35 mm). Lip biopsy [Figure 2] was consistent with Sjogrens syndrome (FOCUS score>1). She was started on Tab hydroxychloroquine; pancreatitis was managed conservatively. Patient was successfully diagnosed as Sjogrens syndrome and was managed conservatively for Acute Necrotising Pancreatitis. In the largest series of patients (1010 patients) with Primary Sjogrens syndrome there was 0.5% prevalenceof Acute Pancreatitis of any aetiology. Acute Pancreatitis as the presenting feature of Primary Sjogrens syndrome is hence even a rarer entity. Sjogrens syndrome must be considered in cases of acute pancreatitis where other discernible causes are not present.
Figure 1: CT image of the acute pancreatitis

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Figure 2: Focus score of lymphocytic aggregation in minor salivary gland biopsy

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  CAS249 Top


Malignancies mimicking rheumatic diseases

Rashwith Umesh1, Padmanabha Shenoy1,2, Anu Sreekanth1, Anuroopa Vijayan2, Kaveri Nalianda2, Sree Sudheendra Medical Mission, Kacheripady, 2Centre for Arthritis and Rheumatism Excellence, Nettore, Kochi, Kerala, India

Background: Rheumatic diseases are known to involve any organ system in the body, as well as paraneoplastic conditions. There may be overlap of clinical manifestations among them, to differentiate which histopathology stands as the best investigation. We also know that few rheumatic diseases are associated with malignancies, but few present without known associations. Here are such paraneoplastic conditions which are presented as autoimmune diseases.

Objective: To describe the overlapping clinical features and highlight the importance of tissue diagnosis, which changed the management.

Methods: Details of 9 patients, including history, examination, initial workup and diagnosis, dilemma and further workup – which changed the diagnosis – have been described in [Table 1].

Results: Out of 9 patients, 6 were female and 3 were male. After the initial work up, they were diagnosed to have Auto-immune conditions namely – Sarcoidosis in one, Spondyloarthritis in 2 rheumatoid arthritis in 1, myositis - 2, SLE – Lupus nephritis -1, vasculitis - 1 and AIDP in one. Later being on medications, 5 worsened and 4 patients didn't show any clinical response and their acute phase reactants remained persistently high. Hence there work up was reconsidered and tissue biopsy was done which revealed paraneoplastic conditions and received treatment for the same.

Conclusion: Auto-immune rheumatic diseases and paraneoplastic conditions have overlapping clinical features, which may mislead the diagnosis, hence the approach showed be broad and tissue biopsy should be given utmost importance at that time. Both Auto-immune rheumatic diseases and paraneoplastic conditions have overlapping clinical features and good response to corticosteroids which may constitute a major diagnostic pitfall in these patients. In these cases, subtle clinical and laboratory features should elicit the clinician to seek for an occult malignancy with broader approach tissue biopsy should be given utmost importance at those time.


  CAS250 Top


PUO: Anti Mi2 antibody is still incidental

S Srilakshmi, Sandeep Kansurkar, Deepti Agarwal, Kavita Krishna; Bharti Vidyapeeth (DTU) Medical College, Pune, Maharashtra, India

Introduction: Autoimmune diseases are closely related to each other and in many cases symptoms and signs of one disease closely resemble with other autoimmune conditions giving us a diagnostic dilemma. This case report is one such eye-opener.

Case Report: A 27-year female, 21 weeks pregnant presented with complaints of fever for 3 weeks associated with widespread rash of the shoulder, anterior chest and lower back. She also complained of multiple swollen and tender large joints, with rash over shoulder and bilateral lower limbs. On evaluating, she had leucocytosis with raised inflammatory markers, anti Mi2 positive, and a negative ANA, dSDNA, RF. At this point the possibility of dermatomyositis was thought of. But oddity of the case was polyarthritis with no muscle weakness and a normal CPK. She satisfied all major Yamaguchi criteria (Fever, Rash, Polyarthritis, sore throat and one minor criteria of leucocytosis). Skin biopsy supported the diagnosis. She was started on prednisolone, Tacrolimus. Later changed to Tocilizumab in view of refractory disease.

Discussion: There are multiple case reports on Adult onset stills disease mimicking other autoimmune diseases. But in this patient Anti Mi2 antibody being positive has given us a diagnostic difficulty. Clinical diagnosis is always superior to laboratory diagnosis in autoimmune diseases.

Conclusion: Antibodies are helpful in diagnosis of rheumatic diseases but sometimes they may mislead and create a diagnostic confusion which may result in delayed treatment and un-necessary laboratory investigations.


  CAS251 Top


Mandibuloacral dysplasia – A genetic mimic of Juvenile dermatomyositis

Naziya Perveen Maldar, Archana Khan, Anushka Prabhudesai, Raju Khubchandani; Department of Paediatric Rheumatology, NH SRCC Children's Hospital, Mumbai, Maharashtra, India

Case Report: Laminopathies like mandibuloacral dysplasia Type A (MADA) with a phenotype of generalized lipodystrophy with pigmentary changes can mimic Juvenile dermatomyositis (JDM).

A 3-year-old girl, born of 3rd degree consanguinity, had failure to thrive, pigmentary skin changes and proximal muscle weakness. Craniofacial dysmorphism in the form of mandibular dysplasia with facies looking advanced for age were present. The nails appeared dystrophic and the terminal phalanges were small with bulbous ends in addition to acral lipodystrophy. Lab investigations revealed normal hemogram and acute phase reactants. There was derangement in muscle enzymes and metabolic profile. While initiating steroids and methotrexate entertaining a provisional diagnosis of JDM, we were mindful of the atypical clinical features. Suspecting a JDM mimic such as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, whole exome sequencing was advised and it showed a homozygous missense mutation in exon 9 of the LMNA gene (c.1583C>T) (p.Thr528Met) on chromosome 1q22. Sanger sequencing of both parents confirmed their carrier state. Immunomodulatory therapy was withdrawn, and the family counselled.
Table 1

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Discussion: MADA is a form of progeroid laminopathy syndrome characterized by growth retardation, craniofacial anomalies, lipodystrophy with progressive osteoporosis and localized osteolysis. Pigmentary skin changes in addition to metabolic dysfunction causing early onset diabetes and atherosclerosis are the other complications noted. A homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) or ZMPSTE24 (FACE1) gene, causes type A or type B MAD, respectively.

Conclusion: On reverse phenotype match, our case had the classic phenotypic features of MAD. However, the raised muscle enzymes with proximal muscle weakness, and the presence of heliotrope rash ad Gottron's like lesions could mimic JDM leading to an unwarranted initiation of immunomodulatory therapy. Therefore, genetic testing and counselling acquires relevance in establishing accurate diagnosis and preventing mishaps in subsequent pregnancies.


  CAS252 Top


Levamisole and autoimmunity – Wondering about wonder drugs

Anushka Prabhudesai, Naziya Perveen Malda, Archana Khan, Raju Khubchandani; Department of Pediatric Rheumatology, NH SRCC Children's Hospital, Mumbai, Maharashtra, India

Case: A 7-year-old girl had been taking Levamisole 3 mg/kg twice weekly for 2 years for patchy scalp alopecia. Results were satisfactory but after 1.5 years she was referred to the rheumatology department for fever, arthralgia, mouth ulcers, increased hair fall and 1+ positive Antinuclear antibody (ANA). On examination, besides the patchy alopecia, she had short stature, pallor, bilateral hallux valgus with spine X-ray showing bullet shaped vertebrae. The labs suggested Coombs positive hemolytic anemia, with normal complements. In light of these findings and the presence of consanguinity, we suspected a monogenic cause of lupus. The whole exome sequencing showed a homozygous nonsense variation in exon 12 of the PAPSS2 gene (c.1666C>T) (Brachyolmia Type 4 with Mild Epiphyseal and Metaphyseal Changes). This explained the skeletal findings, but failed to explain the autoimmunity. Since disseminated autoimmunity has reported with Levamisole, it was omitted and the child was kept under follow up. Within 4 months, her symptoms had improved without the need for steroids or immunomodulators. Fever and arthralgia subsided and hemoglobin improved while Coombs turned negative [Table 1] and the acute phase reactants normalised. We thus concluded it to be Levamisole induced autoimmune haemolytic anemia. Only the alopecia was persistent for which she was subsequently started on Methotrexate 12 mg/m2 subcutaneously [Figure 1] and she now has full hair growth and no systemic complaints.
Figure 1: Improvement in alopecia with methotrexate

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Table 1: Improvement in all 3 cell lines, erythrocyte sedimentation rate normalized, direct coombs test turned negative

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Discussion: Although not a commonly recognized cause of drug induced lupus, Levamisole has been associated with autoimmunity mainly in the form of cutaneous vasculitis and Antineutrophil cytoplasmic antibodies associated vasculitis with few reports on lupus-like side effects.

Alerting practitioners about Levamisole induced autoimmunity will enable early diagnosis and avoid extensive diagnostic work up.

Conclusion: Levamisole is a widely used immunomodulatory drug. Practitioners should be cautioned against its long-term use and pick up levamisole induced autoimmunity early to avoid aggressive therapeutic strategies.


  CAS253 Top


Juvenile dermatomyositis associated with autoantibodies to small ubiquitin-like modifier activating enzyme: A report on four children from North India

Prabal Barman, Pandiarajan Vignesh, Suprit Basu, Sanjib Mondal, Bhoomika Ishran, Rajni Kumrah, Aditya Dod, Ravinder Garg, Amit Rawat, Surjit Singh; Department of Pediatrics, Allergy Immunology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Background: Juvenile dermatomyositis (JDM) is the commonest inflammatory myositis in children. The clinical phenotype is often characterized by presence of myositis-specific antibodies (MSA). Antibodies to small ubiquitin-like modifier activating enzyme (SAE) are amongst the rarest MSA reported in children. Herein, we report 4 children with JDM with positive anti-SAE antibodies.

Objective: To report on the clinical phenotype of children with Juvenile dermatomyositis associated with anti-SAE autoantibodies.
Figure 1: (a) Photosensitive rash in patient 1. (b) Gottron papules in patient 1. (c) Skin pits in patient 2. (d) Magnetic resonance imaging with T2-weighted short-tau inversion recovery (STIR) sequence of thigh muscles showed hyperintensities in patient 1. (e) Nail-fold capillaroscopy showed ramification/arborisation of capillaries in patient 2. (f) EuroLine immunoblot scan of patient 1 (16-antigen kit immunodot assay [EuroLine Autoimmune Inflammatory Myopathies 16 Ag, Euroimmun, Lübeck, Germany])

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Materials and Methods: A review of medical records of all patients diagnosed to have JDM during the period January 1992 - April 2022 in Pediatric Rheumatology Clinic, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India was done. Case records of children with JDM who had significant positivity (1+) for anti-SAE antibody by myositis immunoblot were analysed in detail.

Results: Of the 140 children with JDM, MSA immunoblot was carried out in 53 patients – 4 [Table 1] (7.5%) amongst these had significant positivity for anti-SAE antibodies. Median age of onset of symptoms was 5.5 years (range: 5-11 years). Clinical features at presentation included fever, photosensitivity, heliotrope rash, and Gottron papules. Clinically significant proximal muscle weakness was noted in 3/4 patients; 1 had no discernible weakness, however, had radiological evidence of myositis. None of the 4 patients had evidence of interstitial lung disease or calcinosis. All patients were treated with intravenous pulse methylprednisolone; subcutaneous weekly methotrexate and hydroxychloroquine. One patient received mycophenolate mofetil because of relapse of muscle disease, while none received cyclophosphamide or biologics. Median follow-up duration was 21.5 months (range: 6-39 months).
Table 1: Clinical characteristics of juvenile dermatomyositis patients with anti -small ubiquitin -like modifier activating enzyme antibody positivity

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Conclusion: Anti-SAE antibodies were found in 4/53 (7.5%) of North Indian children with JDM. All 4 patients had predominant cutaneous manifestations followed by muscle disease. Although muscle disease activity was severe in majority of these patients, response to treatment was brisk and sustained. None had developed calcinosis and were in remission at follow-up.


  CAS254 Top


An unusual cause of red eye and rashes in a case of systemic lupus erythematosus

Vaibhavi G Velangi, Abhishek Kumar, Gargi Sasmal, Harsh Jain, S Kartik; Department of Immunology and Rheumatology, Army Hospital Research and Referral, Delhi, India

Introduction: Thrombosis due to anti phospholipid syndrome and nephrotic syndrome are known complication of active Systemic lupus erythematosus (SLE) but bleeding manifestations are rarely seen. Both quantitative and qualitative loss of platelet function are known in active SLE. Platelet dysfunction in form of reduced platelet adhesiveness and aggregation are due to interference by the circulating antibodies and immune complexes.

Discussion: Our patient, a 39-year-old woman was diagnosed as a case of SLE based on features of polyarthritis, leukopenia, malar rash and positive anti-nuclear antibody (ANA) with anti-dsDNA and anti-Sm antibody positivity. She also had repeated history of petechiae in lower limbs and platelet counts were normal. She underwent renal biopsy in view of proteinuria after ruling out any risk of bleeding. Post procedure the patient had persistent pain in the biopsy site and imaging revealed a large perinephric hematoma which was managed conservatively. During illness, she had recurrent episodes of painless red eye without any disturbance in vision. An ophthalmology consultation revealed sub-conjunctival hemorrhage. She also had an episode of diffuse alveolar hemorrhage and subarachnoid hemorrhage. Due to recurrent subconjunctival hemorrhage, petechial hemorrhage, and formation of peri-renal hematoma, despite normal platelet counts and coagulation parameters, platelet dysfunction disorder was suspected. On evaluation for the same, she had reduced platelet aggregation with epinephrine (10 microM) and high dose of ristocetin (1.25 mg/ml) as compared to control and acquired platelet dysfunction secondary to SLE was considered. She was managed with corticosteroids, hydroxychloroquine, and mycophenolate mofetil. There was no recurrence of bleeding on follow up.

Conclusion: Acquired platelet dysfunction like acquired von-Willebrand disease due to antibodies against coagulation parameters is a rare manifestation, which may lead to catastrophic complications if not diagnosed on time. A disproportionate bleeding manifestation with normal parameters of coagulation should raise the suspicion and patient should be evaluated accordingly.


  CAS255 Top


Autologous stem cell transplant in systemic sclerosis, single centre prospective study with modified protocol: A case series of 4 patients with refractory disease

Naval Mendiratta, Rahul Bhargav1, Meet Kumar1; Departments of Rheumatology and 1Hematology, Fortis Memorial Research Institute, Gurugram, Haryana, India

Background: Systemic Sclerosis, a rare yet one of the most threatening connective tissue diseases. With the new classification, focusing on antibody in Systemic Sclerosis, the SCL 70 Variant has found to be the most aggressive affecting lungs in a short span of time. With none of the therapies proving to be effective in halting the treatment, here we present the new emerging therapy: Autologous Stem CEll transplant. It has been around for almost two decades, but never really gained the importance, especially in Indian Scenario. Although our study involved only 4 patients, we modified the regime which has not yet been published in any other trials. The therapy included the inclusion of Rituximab to ATG and reduction of dose of Cyclophosphamide which had proved fatal in systemic sclerosis patients who succumbed to cardiac toxicity.

Objectives: (1) To study the efficacy of Autologous Stem Cell Transplant in refractory cases of Systemic Sclerosis with ILD. (2) To study the drug free period Post Transplant. (3) Is it the ultimate Cure we are looking for systemic Sclerosis?

Methods: It is a prospective longitudinal interventional study performed at a Tertiary Care Centre. The patients were recruited from Feb 2021 to June 2022 with Progressive Interstial Lung disease at the time of admission who had failed conventional treatment. Patients on oxygen therapy and poor cardiac functioning/PASP were excluded from the study.

Results: Patient had a good outcome to the procedure as 3 of them have been completely drug free. The further progression of lung disease was halted as monitored by sequential HRCT of the Chest. Skin thickening showed good signs of improvement.

Conclusion: Autologous Stem Cell transplant should be considered as an upfront option if a patient of systemic sclerosis is not responding to the conventional treatment. It will help improve the quality of life of our patients.


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An unusual cause of low back pain and paraparesis – Chronic non-bacterial osteomyelitis

Nikunjkumar V Dadhaniya, Praveen Saxena, Vishnu Sharma; Apollo Hospitals International Limited, Gandhinagar, Gujarat, India

Background: Chronic non-bacterial osteomyelitis (CNO) is a chronic auto-inflammatory disease, characterised by bone pain, arthritis and constitutional symptoms. Relative rarity of the condition and lack of awareness leads to diagnostic delay.

Case History: A 38-year-old gentleman from Africa presented to our hospital with 24 months duration of insidious onset constant dull-aching back and neck pain and bilateral lower limb spastic paraparesis of 18 months duration. His physical examination revealed focal tenderness over multiple dorso-lumbar vertebrae and left lateral humeral epicondyle and exaggerated dorsal kyphosis. Bilateral lower limbs had spastic paraparesis. Radiographs showed anterior wedging of L4 and L5 vertebrae, lytic and sclerotic areas involving distal femoral, proximal tibial and fibular epiphysis and metaphysis. MRI revealed T1, T2 and STIR hyperintensity lesions involving multiple vertebrae, wedging of vertebrae and meningeal enhancement along with enlargement of cord at D4-D5 level [Figure 1] [Table 1]. Bone-marrow biopsy was normocellular uninvolved by malignancy. Bone biopsy from spine lesion showed normal bony trabeculae and cultures were sterile. His initial blood tests revealed normal WBC and CRP, with slightly raised ESR. His serum protein electrophoresis showed polyclonal ϒ globulinemia; vitamin D, ALP, LDH and PSA were normal. In view of multifocal bone involvement, sterile bone culture and negative malignancy workup the diagnosis of CNO was considered. He was treated initially with naproxen, followed by prednisolone, methotrexate and alendronate. After 2 weeks his pain and lower limb stiffness improved significantly. After 6 months, he had near complete improvement in pain and stiffness. On repeat imaging of spine after 9 months he had partial resolution of edema [Figure 1].
Figure 1: MRI spine comparing baseline and nine months images

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Key Points: CNO should be suspected in any patient presenting with multifocal bone pain. CNO is a diagnosis of exclusion, whole body MRI is the imaging modality of choice. NSAIDs, bisphosphonate, cDMARDs and TNFi are the treatment options for CNO.


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Parkinsonism as the initial presenting feature of systemic lupus erythematosus

M V Prakashini, Prasanta Padhan, Debashis Maikap; Department of Clinical Immunology and Rheumatology, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India

Background: A 50-year-old female presented with loss of appetite, global slowing of movements, slowing of speech and skin rash for a period of 2 months. There was no history of joint pain, Raynaud's phenomenon, cough, shortness of breath, constipation, or cold intolerance and no history of long-term medications. On examination, she had mask-like facies, an erythematous macular rash around her mouth, malar region sparing the nasolabial folds and upper chest [Figure 1]. There was an 8 mm x 5 mm ulcer on her hard palate. Central nervous system examination (CNS) revealed bradylalia, bradykinesia, proximal muscle weakness, cog-wheel rigidity, short shuffling gait with a positive Myerson's sign. Examination of rest of CNS and other systems were normal. On evaluation, she had lymphopenia, elevated ESR and normal CRP. Renal functions were normal. She had transaminitis and raised creatine-phosphokinase levels. dsDNA was high with low C3 and C4 levels. Extractable nuclear antigen panel revealed positive anti-Ribosomal P antibody. IgM anti-β2-glycoprotein1 antibodies was positive at 223.2 RU/ml respectively. She also had pyuria, hematuria, and proteinuria. MRI brain showed diffuse cerebral atrophy. She was treated with intravenous methylprednisolone pulse for 5 days, followed by oral prednisolone with cyclophosphamide (NIH protocol), with a dramatic improvement in her condition.
Figure 1: Photosensitive rash on the chest

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Discussion: Parkinsonism as the initial presenting feature of lupus is rare. In the published cases, rigidity and bradykinesia were the most common presenting features. The underlying pathophysiology of Parkinsonism in lupus is yet to be ascertained but is most likely multifactorial with direct and indirect immune effects. To the best of our knowledge, this is only the second reported case of SLE from India that presented with Parkinsonism as the sole feature.

Conclusion: Parkinsonism is a rare presenting feature in lupus. Our patient responded well to steroids and cyclophosphamide without the use of anti-Parkinsonian drugs.


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Rowell syndrome

Aakash Kumar Singh, Sanjay Jain, Aman Sharma, Varun Dhir, Shefali Khanna, Shankar Naidu, Ritambhra Nada, Aravind Sekar; Department of Internal Medicine, Clinical Immunology and Rheumatology Wing, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Case Summary: 21 y female symptomatic for 2 weeks with C/o malar erythematous rash, on the face and anterior chest associated with photosensitivity, C/o painless oral ulcer, on the palate, buccal mucosa and tongue. C/o periorbital vesicular lesions with crusting involving the angle of mouth, upper and lower lips and periorbital area, Area of hemorrhagic crusting / desquamation.

Background: 2019 She presented with raynaud's phenomenon, fever, polyarthritis, malar rash, altered mentation with hallucinations and delusions and mMRC grade 2 dyspnea. Investigations revealed cytopenias, ANA 3+speckled, DsDNA positive, low complements, elevated cardiac biomarkers, 2d Echo Global hypokinesia and proteinuria. Treated as SLE with neuropsychiatric, myocarditis and macrophage activation syndrome with Cyclophosphamide followed by Cyclosporine. 1 week before presentation was diagnosed with UTI and Cyclosporine withheld and ofloxacin was given for a week. On examination: Oral ulcer present on buccal mucosa and palate and tongue. Erythematous malar rash involving the nasolabial fold with secondary crusting and scaling. Lupus hands with chill blain lesions. Investigation - Hb-6.9 g/dL, TLC-3330, Platelets-1.2L. ESR-70, CRP-6.7, AST-139, ALT-87, RFT-Normal, 24 hours UPCR<0.2. Skin biopsy: Rowell Syndrome.

Patient developed delusions and psychotic behavior in hospital. NPSLE flare was suspected and she was given IV Methyl Prednisolone pulse (500 mg) for three days followed by induction with Cyclophosphamide (600 mg/ month *6) and Rituximab (1 g *2 doses 15 days apart) and maintenance with Rituximab every 6 months. Within 2 months of therapy patient had near complete resolution of skin lesions.

Discussion: Rowell syndrome was considered as patient had history of Ofloxacin use for UTI during which Cyclosporine was stopped. Morphology of the rash was of drug induced Erythema Multiforme and ACLE flare which responded to stopping the drug and dual immunosuppression was given as patient had NPSLE features and persistent skin lesions for last 2 years' despite being on Cyclosporine.

Conclusion: Rowell syndrome can be a rare presentation of SLE and might require intense immunosuppression.


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A rare case of systemic sclerosis associated with idiopathic portal hypertension and hypersplenism

Shweta Khopde, Varsha Bhatt, Abhishek Zanwar, Narendran Sairam; Department of Medicine, D Y Patil Medical College and Hospital, Pune, Maharashtra, India

Introduction: Systemic sclerosis may affect the hepatic mesenchymal tissue as a part of the polyfibrotic process of the condition. Patients with systemic sclerosis may develop mild abnormalities of liver function tests, but portal hypertension is rare.

Case Description: We report a rare case of idiopathic portal hypertension in a known case of systemic sclerosis. She had pancytopenia and her stool for occult blood was positive. ANA by ELISA was positive. The bone marrow was hypercellular, reactive and micronormoblastic. Ultrasound scan of the abdomen revealed hepatomegaly with liver parenchymal disease and splenomegaly. Gastroscopy revealed oesophageal varices. and were treated with endoscopic variceal banding. A follow up stool occult blood was found to be negative.

Conclusion: Systemic sclerosis can be associated with idiopathic portal hypertension and hypersplenism.


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Case series of IgA vasculitis with bowel involvement

R Subramanian, Ashish Badika1; Department of Clinical Immunology and Rheumatology, JSS Medical College, JSS Academy of Higher Education and Research, Mysuru, Karnataka, 2Arthritis and Rheumatology Centre, Indore, Madhya Pradesh, India

Introduction: IgA Vasculitis or earlier known as Henoch-Schonlein purpura (HSP) is a small vessel vasculitis is a multi-system disorder characterized by palpable purpura, arthritis, glomerulonephritis and gastrointestinal manifestations and commonly occurs in children and young adults. It is Henoch- mediated by type III hypersensitivity with deposition of IgA immune complex in the walls of vessels. Gastrointestinal manifestations are protean and are often accompanied by mucosal changes in the bowel wall along with vascular manifestations.

Objectives: To describe the clinical features and management of 11 patients diagnosed with IgA vasculitis with bowel involvement.

Results: A total of 11 patients between 2020 to 2022 were included. Out of the 11, 5 were less than 16 years of age and all had abdominal pain with 2 of them presenting with hematemesis and 3 of them having occult blood in stools without hematemesis. Eight patients had neutrophillic leucocytosis and 2 of them were having albuminuria without significant proteinuria. Skin biopsy demonstrated fibrinoid necrosis with IgA deposits in 6 out of the 11 patients and only 1 patient showing ultrasound evidence of thickened illeal wall. CT findings of diffusely thickened Illeal wall with long segment narrowing was present in 6 out of the 11 patients. Seven patients were pulsed with IV Methylprednisolone and 3 patients received monthly cyclophosphamide and 1 pediatric case required mycophenolate mofetil for disease control [Table 2]. Two patients succumbed due to comorbidities of diabetes and renal failure along with IgA vasculitis at presentation.
Table 1: Clinical features

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Table 2: Management

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Conclusion: Bowel involvement with IgA Vasculitis is a debilitating disease. Aggressive treatment with high dose steroids and some may require steroid sparing agents in case of recurrent disease. Comorbidities of uncontrolled diabetes and those with pre-existing disease have an unfavorable clinical outcome.


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Lupus nephritis post COVID-19 vaccination – Waking a sleeping giant?

Pallavi Vij, Uma Kumar; Department of Rheumatology, All India Institute of Medical Sciences, New Delhi, India

Background: COVID-19 vaccine associated adverse effects are mostly mild to moderate and largely transient in nature. However, reported cases of autoimmune diseases in close temporal association with vaccination have hinted towards a possible autoimmune dysregulation induced by the vaccines.

Case Report: We report a case of a 20-year-old female presenting with progressive anasarca and bullous skin lesions within 2 weeks of receiving her first dose of COVID-19 vaccine. Her routine investigations revealed nephrotic range proteinuria (2.1 g/day) with active urinary sediments, deranged renal parameters, hypoalbuminemia, hypocomplementemia, positive ANA and spiking of anti-dsDNA levels. On renal biopsy membrano-proliferative pattern with full house DIF consistent with lupus nephritis was seen [Figure 1]. The skin lesions were diagnosed as linear IgG/IgA disease on biopsy [Figure 2]. She was started on oral steroids and MMF. After an initial increase in the serial 24-hour urine protein (from 12 g/day to 22 g/day) the proteinuria responded to treatment with improvement in renal function. However, in view of treatment unresponsive anasarca and skin lesions despite MMF 3 g/day for nearly 3 months, the patient was started on injection cyclophosphamide as per NIH protocol. The patient achieved remission with fall in proteinuria after initial 3 pulses of injection cyclophosphamide and is planned to be on maintenance therapy with MMF after completion of induction phase.
Figure 1: Renal biopsy of the patient showing class VI lupus nephritis with an activity index of 8/24 and a chronicity index of 1/12

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Figure 2: Bullous fluid filled skin lesions diagnosed as linear IgG/IgA disease

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Conclusion: This case highlights the possible role of COVID-19 vaccines in triggering autoimmune response especially in people with risk factors for developing autoimmune diseases. A high level of awareness among physicians is critical for early recognition and prompt treatment.


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Rheumatoid rarity

Vinoth, Vishnupriya; Institute of Rheumatology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu, India

Background: Amyloidosis is caused by the deposition of abnormal proteins in the extracellular space of various organs. The clinical features of amyloidosis depend on the type of amyloid protein and the organ system involved.

Case Summary: A 59 -year-old woman developed syncope and multiple joint pain. She was diagnosed as Rheumatoid arthritis 18 years back. On evaluation the patient had bilateral shoulder arthritis and bilateral wrist arthritis, postural hypotension, peripheral neuropathy and complete heart block. On further evaluation, she was found to have a macroglossia. Patient was treated with prednisolone, HCQ, methotrexate for 15 years.

Discussion: Complete A-V dissociation is a rare complication of RA does not respond to anti-inflammatory and immunosuppressive therapy. Conduction defects are generally seen in patients with RA with established erosive nodular rheumatoid disease (mainly seen during the active phase of the disease, especially with a high titer of circulating rheumatoid factors). The postulated mechanisms for pathophysiology are: Primary infiltration of the A-V node or other conducting tissue by mononuclear cells or rheumatoid granulomas. Vasculitis of the arterial supply to conductive tissue. Extension of the inflammatory process from the base of the aorta or mitral valves to the conduction pathways. Amyloidosis. Hemorrhage into a rheumatoid nodule.

Conclusion: Cardiac amyloidosis is rare, and diagnosis requires a high level of suspicion based on the clinical setting and the findings of non-invasive diagnostic exams, particularly transthoracic echocardiography and CMRI. A definitive diagnosis can only be made following histological study. Treatment is directed at the underlying disease and symptom relief. Prognosis is poor in AL amyloidosis with cardiac involvement.


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A novel CARMIL-2 mutation associated with immunodeficiency mimicking hyper IgE syndrome

Anuj Shukla; Niruj Rheumatology Clinic, Ahmedabad, Gujarat, India

Background: Recent studies have reported the association of CARMIL-2 mutation with Combined immunodeficiency. The loss of function mutation is supposed to affect the CD28-dependent co-stimulation in T-cells and cytoskeletal dynamics of lymphocytes. First reported in 2016, 40 such cases have been reported so far.

Case History: A 19-year-old boy presented with a history of allergic skin rash, allergic asthma, recurrent Staphylococcus aureus skin infections in the form of boils, furuncles and abscesses, oral thrush, stomatitis, fungal nail infection [Figure 1], recurrent episodes of fever and leukocytosis due to upper and lower respiratory tract infections. There was a recent episode of eosinophilic esophagitis with stricture requiring endoscopic dilatations. Symptoms started as early as one month of age with skin rash. Other symptoms started over the years, used to wax and wane, and gradually faded. Currently papulosquamous reddish skin rash with nail hyperkeratosis is the troubling symptom. Based on these symptoms Hyper IgE syndrome was suspected which were supported by raised serum IgE levels, low Th17 cells, and memory B cells; but phosphorylation of STAT3 was normal and no mutation was found on Stat-3 and Dock8 gene. Later PID targeted next-generation sequencing was done. A novel homozygous mutation on exon-18 of CARMIL-2 gene. This is a frameshift mutation c:1652_1653del (p.his551argfster40). This mutation has not been reported in the literature but is likely to be pathogenic. As it leads to the early termination and generates truncated protein.

Discussion: Patients with defects in CARMIL-2 gene are presented with eczematic lesions, skin abscesses, early onset IBD, and esophagitis. The clinical features and lab profile can mimic Hyper IgE syndrome and even Psoriasis, as patients with psoriasis are also reported to have low expression of CARMIL-2 gene.

Conclusion: Thus, while evaluating hyper IgE syndrome and juvenile psoriasis, CARMIL-2-associated primary immunodeficiency 58 should be kept in mind.


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A rare case of fever, joint pain and rash

Md Atique, Deepak K Gautam, Ravichand, Bhargav, Subhash; Department of General Medicine, BHU, Varanasi, Uttar Pradesh, India

Case Report: A 27 year male patient, diagnosed case of Ulcerative Colitis in disease remission stage on oral Mesalamine 1.2 gm twice daily, presented with complaints of high grade, intermittent fever for 2 months. Insidious onset joint pain associated with early morning stiffness for 7 days, not associated with swelling, redness or any joint deformity. Multiple ulcerated painful skin lesion with blackish plaque on periphery present over bilateral lower limb for 7 days, not associated with pus discharge or itching. There was no history of oral or genital ulceration, lose or bloody stools, redness of eyes, burning micturition, photosensitivity, cough, weight loss, night sweats or loss of appetite. On examination he was febrile and cutaneous findings were well defined plaque of size 4.5 x 3 cm, with erosion at centre and haemorrhagic crusting at periphery present on extensor aspect of right leg. Thinking the possibility of Scrub typhus/bacterial sepsis, empirically injectable doxycycline and ceftriaxone were started but fever spikes, total leucocytes count, and neutrophilia did not settle. Skin lesion progressed and new similar skin lesions started appearing. Disease Activity of Ulcerative Colitis showed disease in remission stage. Skin biopsy [Figure 1] and CECT thorax report were in favour of vasculitis. Patient was started on oral prednisolone (1 mg/kg), skin lesions improved, and counts settled down.
Figure 1: (a and b) Skin and nail lesions

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Discussion: Final diagnosis made was Ulcerative Colitis/Extraintestinal manifestation: Progressive Systemic Vasculitis. Extraintestinal manifestations of inflammatory bowel disease usually correlate with disease activity except a few, like in our case patient had inactive ulcerative colitis at the time of his presentation. Only few cases in literature have been mentioned showing vasculitis in patients with ulcerative colitis. Usually, vasculitis serology is positive in such cases correlate with active disease, but in our case has negative serology (2).

Conclusions: Vasculitis is a rare extra-intestinal manifestation in patient of Ulcerative Colitis, it can occur in disease remission stage and can be seronegative.


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Anti-SRP myositis – Is it always paucilymphocytic?

Ashish Baweja, Sukdev Manna, B Vijay Karthik, Aditi Goyal Venkatesh S Pai, Anita Mahadevan; Departments of General Medicine and 1Neuropathology, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India











Case Report: Thirty-year-old gentleman, presented with proximal muscle weakness for 3 months with elevated creatine phosphokinase. Electromyogram was suggestive of myopathy, following which, a provisional diagnosis of Idiopathic Immune-mediated Myopathy was kept and Myositis Specific Antibody (MSA) panel was sent along with a muscle biopsy. MSA profile showed strong positivity for Anti-SRP autoantibody and the patient was started with 50 mg prednisolone and asked to follow up with the muscle biopsy report. Muscle biopsy revealed several myonecrotic fibers along with myophagocytosis consistent with the feature of Immune-Mediated Necrotizing Myopathy (IMNM) along with marked lymphocytic infiltrate in endomysium and around vessels in perimysium. Citing the biopsy findings and no improvement in clinical status over 3 weeks, rituximab was given along with an increase in prednisolone dose to 35 mg twice a day with an addition of 15 mg methotrexate once a week. The patient experienced an improvement in muscle power [Table 1] in the second-week post rituximab. Currently, the patient visits OPD alone without any support and is on prednisolone 5 mg and methotrexate 20 mg.
Table 1: Medical Research Council grading

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Discussion: Anti-SRP Myopathy is a subtype of IMNM with distinctive histopathological features which include; (a) Necrotic fibers with scattered distribution, (b) Different stages of necrosis with myophagocytosis and regeneration, (c) Macrophage predominant, paucilymphocytic infiltrates. [Figure 1] Here we describe a case with myofiber necrosis and marked lymphocytic infiltration. Allenbach et al published a study analyzing muscle biopsies of 25 Anti-SRP and 19 Anti-HMGCR myopathy patients. The majority of inflammatory infiltrate comprised of CD68+ macrophages as consistent with previous literature but all of the biopsy specimens also harbored CD3+ lymphocytes with some cases having lymphocyte densities within the same range of Dermatomyositis.
Figure 1: H&E section showing dense perivascular and interstitial endomysial lymphocytic inflammation (a) with presence of myophagocytosis of a necrotic myofiber (b-arrow) and myophagocytosis of a non-necrotic fiber (c-arrow) with a myonecrotic fiber (c-“*”). Immunohistochemistry for p62 does not show any rim positivity around sarcolemmal vacuoles (d). Scale bars represent- 200 microns

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Conclusion: Our findings and recent data hints toward a change in the definition of IMNM to include patients with lymphocytic infiltrate in the future as more cases are discovered.


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Kikuchi Fujimoto disease – A diagnostic dilemma

D K Nath, R R Marak, S Kakati; Department of Medicine, Assam Medical College, Dibrugarh, Assam, India

Background: Kikuchi- Fujimoto disease (KFD), is one among the rarest diseases amongst the Asian population. It is characterized by fever and sub-acute necrotic lymphadenopathy. This case report is on KFD which was a diagnostic dilemma due to our limited exposure to the disease.

Discussion: A 28 y old female presented with the chief complaints of cervical lymphadenopathy for last 6 months. There was history of arthalgia, oral ulcerations with no history of fever, weight loss, night sweats. Patient reported to the nearby physician, FNAC was done which suggested a reactive lymphadenitis and she was started on antituberculosis drugs. She was intolerant to ATT which was discontinued after 2 weeks. 4 weeks later a second FNAC was done which suggested Non-Hodgkin's lymphoma for which she received no treatment. On examination, there were multiple swellings in bilateral cervical region with the largest swelling in right side level II Measuring 1.5 × 1 cm. Chest radiographs were found to be normal. The blood investigation revealed raised ESR which was 60 mm at one-hour, marginal neutropenia and mildly elevated serum globulin level. Biopsy of cervical lymph nodes revealed areas of necrosis in the paracortical region with karyorrhectic debris and presence of plasmacytoid monocytes with crescentic nucleus and foamy histiocytes consistent with necrotizing lymphadenitis. Correlating the clinical findings and the histopathological finding, the features are characteristic of“kikuchi-fujimoto disease”.

Conclusion: Kikuchi-Fujimoto disease, imparts a diagnostic challenge as it's a rare entity. The clinical features are also not very specific. The features of these diseases overlap with tuberculosis and tuberculosis being a common disease in India many times it is diagnosed as tuberculosis. This case report gives an insight on the importance to rule out Kikuchi- Fujimoto disease in patients with lymphadenopathy.


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Primary Sjogren syndrome with autonomicic neuropathy – A rare manifestation

G Manikandan, John Mathew, Shivraj Padiyar, Pratyusha Manikuppam; Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India

This 56-year-old female came with the compliants of Dryness of eyes and mouth for 2 years associated with constipation, weight loss, postural giddiness and difficulty in walking for 9 months. She was evaluated for her sicca symptoms and chronic viral infections; diabetes mellitus was ruled out. She has ANA 2+ SPECKLED, SSA positive, schirmer's 2 mm in both eyes, with lip biopsy of Minor salivary gland tissue showed Grade 3 chronic inflammation, focus score 1. Her lowerlimb weakness predominantly involving the proximal muscles, with mild paresthesia. Cpk and Ldh levels were normal. Her NCV showed motor axonal neuropathy involving bilateral lower limb and EMG showed myopathic process. She has severe postural giddiness with severe orthostatic hypotension. Other causes of giddiness such as central and peripheral vestibular dysfunction are ruled out with Dix hall pike maneuver, audiogram, vestibulogram, and MRI BRAIN were taken which were normal. Amyloidosis was ruled out by fat pad biopsy. Nutritional causes, blood borne viruses were ruled out and possible toxin related neuropathy were ruled out. Dysauatonomia and motor axonal neuropathy involving bilateral lower limb with proximal myopathy is considered due to Sjogren Syndrome. In view of Primary Sjogren Syndrome causing Motor axonal neuropathy and proximal myopathy with autonomic dysfunction she is stared on 1 mg /kg steroids with tapering and Injection Rituximab 1 gm 2 doses were given. Follow up after 6 months her orthostatic hypotension and other autonomic symptoms have resolved and NCV showed improvement.

Conclusion: Autonomic Neuropathy is a rare manifestation of primary Sjogren syndrome with only very few cases available in the literature. This case highlights the good neurological examination with high index of suspicion, leading to the diagnosis and appropriate treatment with immunosuppression and better prognosis


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Leflunomide-induced lupus in rheumatoid arthritis

Vijay Karthik, Sukdev Manna, Venkatesh S Pai; All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

Background: We report a 70-year-old female, a known case of seropositive rheumatoid arthritis for the last 7 years on DMARDs including methotrexate for the last 3 years, and leflunomide for the last 6 months, who presented to us with a new onset macular rash over the malar area [Figure 1] preceded by numerous annular scaly lesions over neck and back [Figure 2] for a fortnight, without any evidence of active synovitis.
Figure 1: Malar rash sparing nasolabial fold

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Figure 2: Annular SCLE caused by leflunomide over neck

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Discussion: The rash was erythematous involving the malar area, sparing the nasolabial fold (ACLE-like). Numerous annular lesions were interspersed with occasional plaque-like lesions over the neck, back and behind her ears (SCLE-like). A skin biopsy from the upper back showed interface dermatitis with basket weave hyperkeratosis. Blood investigations revealed leukopenia (3900 cells/mm3) (DLC - Neutrophils 63%, Lymphocytes 29%). LFT, RFT and urine analysis were unremarkable. Her RF and Anti CCP were positive with values > 3x UNL. She had ANA 3+ homogenous pattern with an end titre of 1:320 with ENA screen by line immunoblot revealing strong positivity for SS-A, while SS-B, histones, ds-DNA and Smith were negative. Leflunomide was withdrawn suspecting drug-induced symptoms and signs, to which the patient responded dramatically, while MTX and HCQ were continued. At follow-up ~2 weeks after stopping leflunomide, her skin rash subsided with some remnant post-inflammatory changes. We diagnosed her to have drug-induced lupus (DIL) due to leflunomide, with a classical history of rheumatoid arthritis, chronology of DMARDs for RA, widespread rash of both SCLE and ACLE, SS-A positivity, seropositivity for RF & Anti-CCP, with resolution of symptoms after withdrawing leflunomide which favoured this diagnosis over spontaneous SLE.

Conclusion: Drug-induced lupus (DIL) can be caused by leflunomide, with seronegativity for anti-histone antibodies, and seropositivity for SS-A in 80% of DIL. It is important to distinguish these patients from SLE, which can otherwise be misdiagnosed as cutaneous lupus.


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A lost case of polyarthritis with ILD

Biswadip Ghosh, Sonali Dey, Partha Ghorai, Pradyut Sinhamahapatra, Subhankar Haldar, Sumantro Mandal, Angan Karmakar, Kaustav Bhowmick, Sudipta Ghorai, Sanjay Dhar, Alakendu Ghosh; Department of Clinical Immunology and Rheumatology, IPGME&R, Kolkata, West Bengal, India

Male, 40 years, suffering from RA for two years was admitted to Rheumatology ward in February 22 with pain, fever, weakness, cough and SOB for 4 months.

There was no history of oro-genital ulcer, photosensitive skin rash, sicca symptoms, skin tightening, muscle weakness, sensory symptoms, headache, chest pain, orthopnea or PND. There was no significant past history. He used to smoke cigarette 4-5 sticks/ day for 15 yrs, quit 1 month back. RA was diagnosed 1 ½ years back with history of polyarthritis of six months with Anti-CCP of 148 and RF of 52. He was advised MTX, with HCQ and prednisolone 5 mg/day. Later sulfasalazine was added. After eight months Tofacitinib replaced SSZ and HCQ. Prednisolone could not be withdrawn because of persistent arthritis. Biologics were discussed but patient could not afford. About four months before presentation, patient developed progressive shortness of breath, Raynaud's along with intermittent moderate grade fever. There was leucocytosis and mild increase in ALT/AST. HRCT thorax revealed B/L lower zone septal thickening and GGOs suggestive of ILD [Figure 1]. Methotrexate and tofacitinib were stopped. Patient was referred to our centre. On admission, there was fever (1000 F), diffuse erythematous macular rash over back, TJC- 28/68, SJC – 12/66, MMT – 120/150. There were crepitations over B/L infra scapular and infra-axillary area in chest. Investigations revealed erosions on wrists in MSK US, CPK-501, LDH-455, EMG-myopathic pattern, Myositis profile: Ro 52 3+, PL-12 3+ Treatment started with prednisolone 1 mg/kg/day. Itraconazole was started for Tenia corporis. After five days he developed generalized maculopapular rash. Dermatologists opined in favor of drug rash. Itraconazole was stopped However rash increased, fascial oedema developed. Signs of pneumonia appeared. Antibiotics were started but patient expired after two days. Final diagnosis: – RA overlap with Antisynthetase syndrome –ILD, myositis with drug rash and pneumonia. This patient had Rheumatoid arthritis which was difficult to control. When he developed shortness of breath on exert ion and fever after about 1 ½ years of disease onset, ILD was diagnosed. It is unusual for Rheumatoid arthritis to produce symptomatic ILD within such short period. So, a second aetiology should be searched for in such cases, such as Antisynthetase syndrome in our case. Our patient did not have muscle weakness at the time of diagnosis of ILD, which is not rare in antisynthetase syndrome. We are not sure of cause of intermittent moderate grade fever in our case, which may be due to disease activity of two simultaneous inflammatory diseases or superadded infection.
Figure 1: HRCT findings

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  CAS270 Top


Melioidosis: A rare presentation of oligoarthritis

Anuj Singhal, K K Kompella, Pooja Mahajan, B Kartik; Department of Medicine and Microbiology, Army Hospital (Research and Referral), New Delhi, India

Disseminated melioidosis is rarely seen in Northern India. Presentation of melioidosis in the form of oligo-arthritis and other musculoskeletal symptoms is further rarer. In this report such a rare case of melioidosis and built up to diagnosis was discussed. 68 yr old male, alcohol consumer, Type 2 DM, Presented with FUO, oligoarthritis, weight loss, fatigability, myositis & prostatic abscess. With Anemia of chronic disease, leucocytosis, hyperglycemia, elevated acute phase reactants, with transaminitis, elevated ALP, hypoalbuminemia, A: G reversal. Imaging of the involved limb [Figure 1] and whole-body PET scan was suggestive of lesion involving left lobe of prostate gland, loculated collection in Right gastrocnemius muscle with collection in right knee joint and left ankle region [Figure 2]. The right knee effusion was aspirated which showed rough and corrugated colonies with metallic sheen on blood agar [Figure 3], on day 2 of culture VITEK- identified as Burkholderia pseudomalle. He was diagnosed as a case of disseminated melioidosis, treated accordingly with good clinical response to treatment [Figure 4] and [Figure 5]. The aim of reporting this case was to know the diagnostic difficulties in identifying this entity and to create awareness of extremely important neglected tropical infection.
Figure 1: Clinical picture depicting synovitis left ankle and pustules over lateral aspect of left ankle

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Figure 2: PET CT and MRI images depicting abscesses in prostate, right knee, ankle joint and muscles (right quadriceps and gastrocnemus)

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Figure 3: Microbiological slides depicting appearance of an organism

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Figure 4: Subcutaneous abscess

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Figure 5: Healed abscess

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Conclusion: We hereby exhibit a rare presentation in a highly risky individual, a case of melioidosis with dissemination into the musculoskeletal system at presentation. To recognize the myriad presentation of melioidosis one must keep a high index of suspicion in presence of risk factors of melioidosis. The aim of reporting this case was to know the diagnostic difficulties in identifying this entity, contemporize about newer tests for antigen detection i.e LFIA as POC test for early diagnosis and to create awareness of extremely important neglected tropical infection.


  CAS271 Top


IgG4-related disease masquerading as periampullary CA and presenting with right portal vein thrombosis

Jinka Chandrakanth, Anupam Dey, Sujata Devi, Debananda Sahoo, Arpita Dash, Debasis Panda; Department of General Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

Background: Immunoglobulin G4-related disease is a fibroinflammatory systemic disease that is characterized by focal or diffuse organ infiltration by immunoglobulin G4-bearing plasma cells. Immunoglobulin G4-related disease may affect any organ system. Serum IgG4 levels are often but not always elevated. The most common phenotypic presentation includes Pancreatic-hepato-biliary disease, retroperitoneal fibrosis and/or aortitis, Head- and neck-limited disease, Classic Mikulicz syndrome with systemic involvement. Tumour-forming lesions are common radiological features of immunoglobulin G4-related disease that need to be differentiated from malignancies. Diagnosis typically requires a biopsy. Treatment is with corticosteroids and sometimes rituximab.

Case report: A 51 yrs old male, k/c/o T2DM, COPD, HTN who has undergone Whipple's surgery in 2015 in view of? Distal cholangiocarcinoma and biopsy revealed no malignancy, now presented with complaints of Malena, and hematemesis. Upper GI endoscopy revealed jejunal varices and CT abdomen and angiography revealed right portal vein thrombosis, varices in the jejunal area, and mild bulky pancreas. Work up for thrombophilia was done which was normal. Liver biopsy was done which showed lymphoplasmacytic infiltrates stained for IgG and markedly serum IgG and igG4 levels thus diagnosis suggestive of IgG4 related disease. Patient was discharged with oral steroids and discharged for a follow-up to look for resolution of lesions.

Discussion and Conclusion: IgG4-related disease should be considered as one of the differential diagnoses involving pancreatic-biliary system suspected malignancy to avoid interventional procedure and complications.


  CAS272 Top


Acute pancreatitis in connective tissue disorder children: A single centre experience

Debasis Patro1, Anil Kumar1, Anand P Rao1,2; 1Manipal Hospital, 2Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India

Introduction: Connective tissue disorders (CTD) are autoimmune diseases with multi-organ involvement. Gastrointestinal (GI) involvement though rarely reported in children is associated with significant morbidity and mortality. Among the varied GI manifestations, acute pancreatitis (AP) seems to be associated with the severe manifestation of underlying CTD. Etiopathogenesis is complex and multifactorial and includes drugs used for treatment.
Table 1: The individual clinical profile

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Objective: To study the clinical profile and outcome in children diagnosed with acute pancreatitis associated with CTD.

Methods: We retrospectively looked into our cohort of patients enrolled in our rheumatology clinic diagnosed with AP for the last 8 years which requires the presence of any 2 of the 3 criteria: acute onset of epigastric pain, the elevation of serum amylase or lipase ≥ 3 times upper limit of normal and characteristic findings of acute pancreatitis on imaging.

Results: In our cohort, all patients were female with three of them diagnosed with lupus, two with dermatomyositis and one with mixed connective disorder. All had features of acute pancreatitis at the onset of the disease due to high disease activity requiring pulse methylprednisolone except patient F which was probably steroid induced where drugs were stopped for two weeks. Two lupus patients had a recurrence of pancreatitis and subsequently developed thrombosis and multi-organ dysfunction (MODS). Antiphospholipid antibodies in these two patients were negative. High inflammatory markers, low albumin, bicytopenia and low C3/C4 in lupus are seen to be associated with pancreatitis at presentation.

Conclusion: Acute pancreatitis in a connective tissue disorder in children is associated with high morbidity and mortality. Diagnosis of the entity is masked by various factors. In the evaluation of a sick child with pain in the abdomen, pancreatitis should be kept as the differentials for appropriate immunosuppression and supportive care to prevent morbidity and mortality.


  CAS273 Top


A interesting case report of coexistent scleroderma and pseudoscleroderma

Veena Viswanath, B G Dharmanand, K M Prathima; Manipal Hospitals, Bengaluru, Karnataka, India

Sclerosing skin diseases encompass a collection of diseases, characterized by excessive accumulation of extracellular matrix constituents in the dermis or the subcutis. Cutaneous and subcutaneous sclerosis, sometimes with extension into the deeper planes is the characteristic feature of both scleroderma and scleroderma like disorders (SLD). We report the case of a patient in whom features of both scleroderma and SLD coexist. A 32-year old lady who had an established diffuse cutaneous systemic sclerosis with Raynaud's phenomenon, sclerodactyly, digital ulcers, GERD and ILD of 16 years, presented with recent worsening of skin symptoms which was resistant to multiple drugs including Azathioprine, MMF, Methotrexate and Rituximab. On reviewing the history, she had debilitating pruritus which was partially responsive to antihistamines, involvement of the skin of the midback (typically spared in scleroderma) and multiple hyperpigmented papules and plaques over the upper and mid back and the extremities. A fungal staining of skin scraping was positive for dermatophytosis. The pruritis responded remarkably to systemic antifungal therapy, Inview of the persistent atypical appearance of the skin, a skin biopsy was done which revealed dense homogenisation of collagen bundles in dermis typical of scleroderma with additional deposits of homogenous material positive for Congo red and crystal violet staining suggestive of cutaneous macular amyloidosis. We propose that scleroderma with a superimposed persistent fungal infection that led to a cycle of chronic pruritis and scratching might have contributed to the development of amyloidosis. Macular amyloidosis is a skin limited condition with no potential for visceral involvement and the treatment is directed at improving symptoms and cosmesis. Scleroderma like disorders can rarely coexist with scleroderma. In the presence of atypical clinical features or refractoriness to therapy, one should review the diagnosis and investigate for alternative causes or coexistent conditions that may necessitate a different therapy.






  CAS274 Top


Rheumatological manifestations of malignancies

Radhika Jakhotia, G C Yathish, Abhishek Patil; Manipal Hospital, Bengaluru, Karnataka, India

Background: Paraneoplastic syndromes are the expression of an underlying cancer, frequently occult, and can be caused by a wide variety of remote tumor effects unrelated to the mechanical impact of the tumor mass or distant metastases. The incidence of paraneoplastic rheumatic disease of 2.65%–23.1% has been reported, and all types of rheumatism or rheumatic symptoms are present in malignant diseases.

Discussion: The clinical features of 10 patients with median age 60 yrs were included in the series (Female = 8). The Rheumatological manifestations were subdivided based on their clinical presentation. The rheumatic disease was as below: Rheumatoid arthritis like (3); UCTD like (2); SLE like (1); Dermatomyositis like (1); Seronegative arthritis like (1); APS like (1) ; ANCA vasculitis like (1). Malignancies can present with various forms of rheumatic manifestations including arthritis, myositis, Raynaud's. Here we present the data of 10 patients with biopsy proven malignancy whose presenting symptoms were those of rheumatic diseases. Common to these diseases is the presence of autoantibodies such as ANA and RF. We need to be aware of the myriad of rheumatic manifestations presented by the rheumatic diseases.

Conclusions: Paraneoplastic rheumatic syndromes are rare; however, clinicians should be aware that they can be the first sign of an occult malignancy.


  CAS275 Top


Eosinophilic fasciitis in a young boy – A case report

Veena Viswanath, B G Dharmanand, K M Prathima; Manipal Hospitals, Bengaluru, Karnataka, India

Eosinophilic fasciitis also called Shulman syndrome is an uncommon disorder of unknown etiology and poorly understood pathogenesis. It is characterized by collagenous thickening of the muscular fascia and subcutaneous tissue, with a variable infiltration of eosinophils. The current understanding of the disease relies on a relatively few large case series and multiple case reports. EF affects whites more than other races and most patients present during the third to sixth decades of life. Here we report the case of a 16-year-old boy, who presented with progressively worsening pain over digits with no associated swelling or morning stiffness of 7 months duration. There were no constitutional symptoms or symptoms of cardiorespiratory or gastrointestinal involvement. On examination there was no clinical evidence of synovitis in any joints, but he was unable to make a fist. There was significant thickening of skin of forearm up to midarm and lower limb up to the midthigh, mild thickening of dorsum of hands and feet with no hyper or hypopigmentation. Sclerodactyly, Raynaud's phenomenon and digital ulcers were absent. Groove sign was present. Systemic examination was normal. Investigations revealed a normal ESR and LDH, mild elevation of CRP and hypergammaglobulinemia. There was peripheral eosinophilia (AEC:1640) and skin biopsy showed dense collagenous fibres with aggregates of eosinophils in the reticular dermis and subcutaneous tissue suggestive of eosinophilic fasciitis. No specific trigger could be identified. FISH was negative for HES panel. The patient was started on oral prednisolone and methotrexate and is under follow up. EF is generally corticosteroid responsive. Morphea like skin lesions, younger age at onset, truncal involvement is associated with persistent fibrosis. The edematous phase responds more promptly than the skin induration. Early diagnosis and prompt treatment of EF may have a positive impact on the patient's morbidity, quality of life, and even on the disease remission.








  CAS276 Top


Overlap syndrome (antisynthestase syndrome with systemic sclerosis) with massive pericardial effusion

J Bhavya, Kailash Kumar, Jitendra Singh, Dinesh Kumar Gautam, Swati; Department of General Medicine, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Case Report: 33 years old female, presented with exertional dyspnea, myalgia with proximal leg weakness, polyarthritis, hyperpigmentation of the skin, decreased mouth opening, and Raynaud's phenomena. On examination diffuse hyperpigmentation of skin, induration, puffy fingers, pallor, fine inspiratory crepitations in bilateral lung fields, and muffled heart sounds were heard. On investigation, normocytic anemia (8 g/dl), ESR (27 mm/h), and CPK (1961 U/L) were elevated. ECG showed low voltage complexes. Chest roentgenogram showing reticular shadows in bilateral lung fields with an enlarged cardiac silhouette. 2D Echo revealed massive pericardial effusion which was exudative. Serum ANA was weakly positive, anti-PL-12 and anti-Ro 52 came positive, and all other connective tissue disease markers were negative. A muscle biopsy was planned but denied by the patient. Diagnosis of overlap syndrome [anti synthetase syndrome with systemic sclerosis] was kept.

Discussion: Systemic sclerosis (SSc) is a complex and clinically heterogeneous orphan disease with protean clinical manifestations, a chronic and frequently progressive course, and significant disability, disfigurement, and mortality. Virtually every organ can be affected. The presence of myositis, non-erosive arthritis, ILD, Raynaud phenomenon, mechanic hands, and fever associated with antibodies against aminoacyl-tRNA synthetase constitute the Anti synthetase syndrome (ASS). Overlap syndromes are inflammatory rheumatic conditions in which patients have clinical manifestations suggestive of multiple distinct immune diseases. Systemic sclerosis is diagnosed clinically by ACR-EULAR Classification criteria. Diagnostic criteria for ASS- two major criteria are interstitial lung disease and muscle disease; minor criteria are arthritis, Raynaud phenomenon, or mechanic's hands. In our patient, the criteria for both diseases were overlapping.

Conclusion: Massive pericardial effusion is rare but can occur in systemic sclerosis. Immunosuppressive agents, such as azathioprine, mycophenolate mofetil, and/or tacrolimus, are usually required in addition to corticosteroids for management of the myositis and pulmonary manifestations of anti-synthetase syndrome. Anti-Ro52 antibody is associated poorer prognosis in interstitial lung disease.


  CAS277 Top


Missed and mislabeled chalk-stick fracture in ankylosing spondylitis

J Sankar, Anindita Sinha1, Chandra Bhushan Prasad, Sanjay Jain, Varun Dhir; Department of Internal Medicine, Clinical Immunology and Rheumatology Wing, Postgraduate Institute of Medical Education and Research, 1Department of Radiodiagnosis, Postgraduate Institute of Medical Education and Research, Chandigarh, India

A 47-year-old male presented with asymmetric lower-limb oligoarthritis of 2-months duration and long-standing inflammatory low back ache of 11-years duration. On examination, he had kyphosis with marked spinal restriction and a gibbus at T-12. Radiograph of the pelvis showed bilateral grade 4 sacroiliitis and HLA B27 was positive, thus confirming ankylosing spondylitis. In the radiograph (not shown) and computed tomography of spine, there was bamboo spine with bridging syndesmophytes and a fracture at T-12 [Figure 1]b. The fracture completely dissected the vertebral column (with slight displacement) consistent with a chalk -stick fracture. The sclerotic margins suggested it was chronic. The patient denied any trauma in the past, however, gave a history of treatment for tuberculosis of the spine diagnosed on magnetic resonance imaging done five-years ago (done for back pain). A review of the MRI just revealed the same fracture with bone marrow edema, but no collection to suggest tuberculosis [Figure 1]a. 'Chalk stick fracture' is typically an intradiscal fracture which extends to the posterior elements typically occurring in an ankylosed spine.[1] The biomechanical stability of the spine is altered in the fused and rigid spine; thus, a fracture can occur due to minimal trauma.[2] Generally, it is associated with neurologic deficits (in two-thirds at presentation),[3] however, sometimes no neural compromise may occur, and it may go unnoticed by the patient. This case highlights a missed chronic fracture detected incidentally on imaging. It is important to be aware of this entity to avoid a misdiagnosis of an infection like tuberculosis and counsel the patient regarding avoiding further trauma or falls.
Figure 1: (a) Sagittal T2 weighted fat saturated MRI of dorsolumbar spine showing transdiscal fracture at T12 with bone marrow edema. (b) CT dorsolumbar spine (sagittal section) showing chalk stick fracture at T12 with completely ankylosed spine

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  CAS278 Top


Neurosarcoidosis as a rare cause of PUO

Vijay Kumar, Divendu Bhushan, Y Sidheer Varma, Kotha V K Patel; Department of Medicine, AIIMS, Patna, Bihar, India

Background: Sarcoidosis is an inflammatory disease characterized by the presence of noncaseating granulomas. The disease is often multisystemic and requires the presence of involvement in two or more organs for a specific diagnosis. Lung is the most commonly involved organ though other organs such liver, skin, eyes, even rarely cardiac, neurological and renal involvement is also seen.

Case Report: A 40-year-old male patient presented with complaints of fever and abdominal pain for 25 days. General Physical survey along with Systemic examination was non-significant. His laboratory investigations revealed Hemoglobin- 13.7 g/dl, TLC- 8200/mcl and Platelet- 120000/mcl. Liver enzymes were raised and CRP- 135 mg/dl. Urine REM, Urine CS and Blood CS were not significant. CECT Thorax Abdomen was done which revealed multiple peri-fissural and centrilobular nodules with reticular opacities, ground glass opacity in bilateral lung fields with multiple right axilla, retrocardiac, costophrenic, retroperitoneal lymph nodes. - likely granulomatous disease. CT guided biopsy of Retroperitoneal Lymph Node was done which revealed Chronic Granulomatous Disease with non-caseating granulomas and Serum ACE levels were 187.9 U/L which was suggestive of Sarcoidosis and he was started on Prednisolone 40 mg and was afebrile. The patient presented again with fever and altered sensorium and the patient's CSF Analysis revealed features of Sarcoid Meningitis ADA- 8.2 Glucose- 55, Protein- 97; Cells:15- all mononuclear cells. MRI Brain and Spinal Cord revealed Numerous miliary enhancing foci diffusely scattered in brain and spinal cord likely chronic granulomatous infiltration-D/D: Sarcoidosis/ Miliary TB. He was considered as a case of probable Neurosarcoidosis and was started on Prednisolone as well as Methotrexate and was afebrile and sensorium improved. Repeat CECT Thorax Abdomen was done which was showed Lymph nodes size to have reduced, proving response to steroids.

Discussion: The patient was considered as a case of Neurosarcoidosis despite TB or Lymphoma being a very close differential diagnosis because of Histopathological confirmation of Retroperitoneal Lymph Node. The dose of steroid required to treat Neurosarcoidosis is higher than usual and also second line drugs such as Methotrexate are to be used if inadequate response is seen.

Conclusion: It is always important to consider other causes of granulomatous diseases and also to have a tissue diagnosis to establish the cause than radiographic evidence.


  CAS279 Top


Extensive arterial calcification in young patient – Mimicking vasculitis

Harman Singh, Kaushik Bhojani, Neel Patel; Department of Rheumatology, Fortis Hospitals, Mumbai, Maharashtra, India

Case Report: 17-year-old young male presented with headache, convulsions. On examination was found to have weak peripheral pulses, carotid and renal bruit, Malignant hypertension. Echocardiography showed LV hypokinesia with EF 40%. Renal doppler showed bilateral renal artery stenosis. Brain imaging suggestive of PRES, acute ischemic infarcts with chronic lacunar infarcts. Suspecting him to be a case of vasculitis, we did PET imaging which showed extensive arterial calcification involving the medium and small sized arteries sparing the aorta. Workup for vasculitis was negative. Taking the age of the patient and extensiveness of the arterial calcification [Figure 1], genetic sequencing was advised for hereditary disorder of arterial calcification. Due to financial constraints, that could not be achieved. Patient currently doing well on antihypertensives and anti-epileptics. Treatment plan includes bisphosphonates, pamidronate.
Figure 1: (a) X-ray elbow showing brachial artery calcification, (b) X-ray knee joint showing popliteal artery calcification

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Discussion: Although diagnosing vasculitis is important, differentiating it from its mimics also plays an essential role. As an incorrect diagnosis of vasculitis can result in harmful consequences, it is imperative that the evaluation of suspected vasculitis includes consideration of mimics. Arterial calcification is commonly seen in adult individuals with atherosclerosis, diabetes, renal failure, etc. However, when present in young individuals, it is likely to be associated with an underlying hereditary disorder of arterial calcification. These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) Interferonopathies, and (3) Gaucher disease.

Conclusion: The finding of arterial calcification in early life should alert the clinician and prompt further genetic work-up to define the underlying genetic defect, to establish the correct diagnosis, and to enable appropriate therapy.


  CAS280 Top


A case report of adult onset refractory dermatomyositis in a young male

K Shanmuganandan; Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India

Case Report: The COVID pandemic and upscaling of vaccination worldwide has brought forth newer vistas in medical field, including new onset autoimmune and autoinflammatory diseases. We report a rare case of adult onset of refractory AntiNxp2 dermatomyositis in a young male following COVID vaccination. A 40-year-old gentleman presented with progressive severe proximal myopathy, dysphagia, dysphonia, unilateral orbital rash within 4 weeks of COVID-19 vaccination. Clinically and radiologically he had features of dermatomyositis, with bulbar involvement requiring transient ventilation and nasogastric tube feeding. He responded to sequential pulse steroids, IVIG, B-cell depletion therapy, tacrolimus and other supportive measures.

Conclusion: To our knowledge this is the first report in the world of a refractory adult onset NXP2 dermatomyositis, which usually is seen in children, following COVID-19 vaccination.


  CAS281 Top


Psoriatic arthritis presenting as mandibular enthesitis – A case report

Veena Viswanath, B G Dharmanand; Department of Rheumatology, Manipal Hospital, Bengaluru, Karnataka, India

Peripheral arthritis, axial disease, enthesitis, dactylitis, skin disease, and nail disease are the six commonly recognized clinical domains of psoriatic arthritis. Enthesitis occurs in 35-50% of patients with psoriatic arthritis and is more common in psoriatic arthritis than other forms of arthritis. We report a case of psoriatic arthritis with medial pterygoid enthesitis as the major presenting manifestation. We report the case of a 34-year-old male, who presented with inflammatory arthritis involving right second and left third distal interphalangeal joints, left wrists and bilateral shoulders of 2 months duration. The most bothersome presenting symptom was right sided jaw pain which was making it difficult for him to open his mouth and chew food. There were no symptoms suggestive of spinal involvement, psoriasis, uveitis or IBD. Physical examination revealed DIP and wrist synovitis and tenderness at medial collateral ligament insertion and hip adductors suggestive of enthesitis. On palpation, there was no tenderness at the temporomandibular joint and no restriction of movement. But there was severe tenderness below the TMJ, over the medial pterygoid insertion. On a thorough examination, there was a small psoriatic plaque in the external ear which the patient was previously unaware of MRI [Figure 1] of the mandible revealed bone marrow oedema in the medial aspect of the angle of mandible at the insertion of the right medial pterygoid muscle suggestive of enthesitis. Patient's jaw pain did not respond to NSAIDs. He was initiated on tofacitinib and showed significant improvement. Clinically identifying enthesitis is challenging and imaging modalities including ultrasound and MRI are important tools that aid in making a diagnosis. Enthesitis may serve as a marker of disease severity and its presence correlate with poorer functional status. Earlier recognition of enthesitis may help in choosing a therapy which effectively treats this domain of psoriatic arthritis too.
Figure 1: MRI Temporomandibular joint

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  CAS282 Top


From recurrent hypokalemic paralysis to Sjogren syndrome – A case report

S Bhuyan, J Bora, D Doley; Department of Medicine, Assam Medical College and Hospital, Dibrugarh, Assam, India

Background: Sjogren syndrome (SS) is a multisystemic autoimmune disorder with predominant exocrine gland involvement leading to sicca symptoms. Among extra glandular manifestations, renal involvement is commonly seen. Distal RTA is the most common manifestation which can rarely present with hypokalemic paralysis.

Discussion: A 51-year-old female patient presented with acute onset painless, progressive proximal muscle weakness of all four limbs. There were multiple similar episodes in the past. There were no features of sensory or autonomic dysfunction. She did not complain of any dry eyes or mouth. She had areflexic flaccid quadriparesis with no cranial nerve deficit. She did not have enlarged parotid or lacrimal glands. On investigation, she had hypokalemia (S. Potassium 1.6 mEq/l), normal anion gap (12, normal 8–16) metabolic acidosis (pH 7.2, HCO3− 9 mEq/L) with alkaline urine pH (8.3). Urinary potassium was 17 mEq/l suggesting renal potassium loss. On dexa scan her Z score was -3.7. Serum 25-OH Vitamin D levels was 34 ng/ml (N > 30 ng/ml). Her calcium and phosphorus were low which suggested hypophosphatemic osteomalacia. Renal ultrasound showed nephrocalcinosis. The Schirmer test was 4 mm in 5 min (normal >5 mm in 5 mins which suggested dry eyes. Diagnosis of distal RTA was considered in view of normal anion gap metabolic acidosis, alkaline urine and hypokalemia. Autoimmune panel showed positive ANA and strongly positive Anti-Ro (SS-A) 135 U/ml (N < 3.0), and Anti-LA (SS-B) 111 U/ml (N < 3.0) suggestive of Sjögren's syndrome.

Conclusion: Hypokalemic paralysis secondary to Sjogren's syndrome with distal renal tubular acidosis along with osteomalacia is rarely seen in our population. Our report illustrates that Sjogren syndrome is a rare but important cause of hypokalemic paralysis.


  CAS283 Top


Watermelon stomach as a presenting feature of systemic sclerosis

B V Harish, Pradeepta Sekhar Patro, Rasmi Ranjan Sahoo, Joydeep Samanta, Jimmy Narayan1, G Sudhish, A Alekhya, Ashlesha Shukla; Departments of Clinical Immunology and Rheumatology and 1Medical Gastroenterology, IMS and SUM Hospital, Bhubaneswar, Odisha, India

Background: A 70-year-old female presented with 3 months of progressive skin thickening involving face, bilateral upper and lower limbs extending till elbows and knees. There was no Raynaud's phenomenon, gastro-esophageal reflux or breathlessness. Modified Rodnan score was 18 out of 51. Investigations revealed iron deficiency anemia and positive stool occult blood. Antinuclear antibody by indirect immunofluorescence method revealed 4+ fine speckled and immunoblot was positive for anti-PM/Scl and anti-Jo 1 antibodies. Computed tomography thorax and 2D echocardiography were normal. Upper gastrointestinal endoscopy showed edematous hyperemic linear mucosa in antrum suggestive of gastric antral vascular ectasia (GAVE) [Figure 1]a. She was transfused with 2 units of PRBCs and underwent endoscopic Argon Plasma Coagulation (APC) for GAVE [Figure 1]b. Her hemoglobin improved to 10.9 at one month follow up.
Figure 1: (a) UGI scopy – Gastric antral vascular ectasia. (b) UGI scopy – Post argon plasma coagulation

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Discussion: GAVE is characterized by dilated small vessels, erythematous streaks, and longitudinal rugal folds in the antrum of the stomach and can be associated with cirrhosis of liver, chronic kidney disease and autoimmune diseases like systemic sclerosis, rheumatoid arthritis. Histologically, it is characterised by hyperplasia of the mucosa with capillary ectasia and thrombosis, fibromuscular hyperplasia of lamina propria and abnormal vessels in the submucosa that endoscopically resembles stripes on watermelon, hence the name “watermelon stomach”. SSc patients with GAVE are frequently females with diffuse cutaneous disease and positive for anti-RNA polymerase III antibodies. Anti-Scl-70 and anti-U1 RNP were not associated. They were more likely to have anaemia, telangiectasia, calcinosis, scleroderma renal crisis, digital ulcerations, but not associated with pulmonary artery hypertension and interstitial lung disease. Conservative management by anemia correction and proton pump inhibitors, as well as procedural therapies such as endoscopic laser therapy and argon plasma coagulation are required if conservative therapy fail.

Conclusion: GAVE can be the presenting manifestation in SSc warranting appropriate investigation in patients with unexplained anemia.


  CAS284 Top


A rare presentation of primary Sjogren

Abhishek Kumar Raj, Dheeraj Kishore, Amita Diwakar, Shubham Jain; Department of General Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Case Report: 19-year-old female presents with fever for 8 months which was mild in grade, drying and hyperpigmentation of skins for 5 months, difficulty in swallowing solid food for 5 months such that she used to drink water to swallow food and difficulty in walking for 2 months in the form of tendency to fall specially during nighttime, tingling sensation in bilateral upper and lower limb. On clinical examination there was diffuse skin hyperpigmentation and thickening, there was no head drop and on neurological examination patient had reduced sensory modalities of all form specially vibration and proprioception in all limbs. Hematological parameters show mild anemia. In view of above symptoms, a suspicion of connective tissue disorder was made, and ANA was sent which came positive. Further anti-SSA and anti- SSB also came positive. Schirmer's test was done which came positive, histopathology of minor salivary glands was done which shows significant lymphocytic infiltration consistent with primary Sjogren. Nerve conduction studies of all four limbs shows absent SNAPS with normal motor conduction studies. So, a provisional diagnosis of primary Sjogren with sensory neuronopathy was made. Immunomodulators were started and patient other symptoms improved but there was no improvement in neurological symptoms.

Discussion: Sjogren is a prototype autoimmune disorder characterized by infiltration of lymphocytes in exocrine glands. Common manifestation is arthralgia/ arthritis, Raynaud's phenomenon. Although according to literature neurological symptoms in pSS is about 8.5- 70%, patient primarily presenting with symptoms of peripheral neuropathy, (2%) (especially sensory neuronopathy is very rare) and although various immunomodulators have been tried but their outcome in neuropathy is still unsatisfactory.

Conclusions: Although rare but patients of primary Sjogren can presented with predominantly neurological symptoms without musculoskeletal manifestations. So, we should always keep a suspicion of primary Sjogren in patients presenting with sign and symptoms of peripheral neuropathy specially in young female.


  CAS285 Top


Diagnosis – Immunogenicity 70

G Manikandan, John Mathew, Shivraj Padiyar, Pratyusha Manikuppam; Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India

Here we present a young boy in his early 20's from the Indian subcontinent presented to our OPD with recurrent episodes of fever, oral ulcers, loss of weight for past 3 years. Four episodes (July 2019, April 2020, April 2021, Jan 2022) of fever, each high grade associated with chills, rigor, nausea, myalgia, throat pain, holocranial headache, painful oral ulcers over the tongue and painless over lips. Initial episode of fever was associated with leucopenia (3200) and thrombocytopenia (122000), acute kidney injury (creatinie-3.0) and pyelonephritis, transaminitis. He received 2 weeks of parenteral antibiotics and improved. Subsequent episodes of fever are not associated with any localizing symptoms or signs. No history of photosensitivity, malar rash, hair loss, ENT symptoms, hypo or hyperthyroidism, Raynaud's phenomenon. Family history was noncontributory. On physical examination, he was febrile (101-degree F), pulse rate 100/minute, respiratory rate 18/minute, tongue ulceration in lateral border, no lymphadenopathy, no organomegaly, normal Sysytemic examination. The patient was evaluated for chronic infections, hematalogical malignancy, Behcets disease, autoinflammatory syndromes like Haploinsufficiency of A20. His complete blood count, electrolytes, renal function tests, liver function tests, urine microscopy, blood culture were normal. CRP was elevated (58). Tzanck smear from buccal mucosa was negative. CT thorax and abdomen showed no significant adenopathy, organomegaly, evidence of infections or malignancy. In view of oral ulcers, fever Behcets disease was considered and HLA b51 was sent and came negative. Exome genome sequencing was done to diagnose immunodeficiency or autoinflammatory syndrome, which came positive for immunodeficiency 70. During the hospital stay his fever subsided with single dose of corticosteroid (deflazocort 30 mg). His leucopenia normalized and became afebrile. He is on colchine 0.5 mg twice daily and there are no further episodes of fever, oral ulcers or leucopenia. Immunodeficiency-70 (IMD70) is an autosomal dominant immunologic disorder characterized by severe cutaneous warts on the hands, feet, and face, suggesting increased susceptibility to human papillomavirus (HPV) infection. Affected individuals may also have recurrent bacterial infections like pneumonia, boils, sinusitis, as well as feature of autoinflammation, such as colitis, celiac disease, and retinal vasculitis. Laboratory studies show decreased CD4+ T cells and decreased CD19+ B cells; hypogammaglobulinemia, combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has material basis in heterozygous mutation in IVNS1ABP on chromosome1q25.3.


  CAS286 Top


Musculoskeletal manifestations as an initial presentation of plasma cell neoplasm: A case series

P Patil, R Samant, C Balakrishnan, S Kadam, S Yadav, S Baliga, A Patankar, G Sachdev; PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India

Introduction: Plasma cell neoplasms (PCN) result from excessive production of specific monoclonal immunoglobulins. These include monoclonal gammopathy of undetermined significance (MGUS), isolated plasmacytoma of the bone, extramedullary plasmacytoma, and multiple myeloma. PCN occasionally manifest with musculoskeletal symptoms as an initial presentation. We report three patients who presented with musculoskeletal symptoms and were eventually diagnosed as PCN.

Discussion: PCN are a group of disorders involving mature B cells. Patients may be asymptomatic or may present with anemia, recurrent infections, renal insufficiency, skeletal lesions, and occasionally manifest as inflammatory arthritis. Large follow-up studies of rheumatoid arthritis (RA) have shown that about 3.8% of patients may develop monoclonal gammopathies during the course of the disease. Plasma cell dyscrasias should be ruled out in any elderly patient with atypical features of inflammatory arthritis. We report three elderly patients who presented with inflammatory arthritis (IA) as an initial presentation of plasma cell neoplasm [Table 1]. The mean age of the patient was 57 years (M: F–1:2). All the three patients presented with asymmetric oligoarticular arthritis, one patient having localized swelling over joint. Wrist and shoulder joints were the most commonly involved. Mean erythrocyte sedimentation rate (ESR) was high in all patients. One patient was seropositive for both rheumatoid factor and anti-cyclic citrullinated peptide (CCP) antibody. All the three patients were initially treated for IA and unresponsive to treatment, further worked up was done. Two patients were diagnosed as multiple myeloma and one was patient diagnosed as plasmacytoma and started on chemotheraphy. All patients responded well.

Conclusion: Inflammatory arthritis as an initial presentation of PCN is not uncommon. The clue to suspect PCN in our elderly patient with inflammatory arthritis from basic investigations were raised ESR, hypergammaglobulinemia, raised serum creatinine, hyperuricemia and confirmed with immunofixation, serum electrophoresis, bone marrow biopsy.


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Lupus orbitopathy: An unusual manifestation of systemic lupus erythematosus

Angan Karmakar, Arghya Chattopadhyay1, Pradyot Sinha Mahapatra; Department of Clinical Immunology and Rheumatology, Institute of Post Graduate Medical Education and Research, Kolkata, 1Department of Rheumatology, North Bengal Medical College and Hospital, Siliguri, West Bengal, India

Background: SLE can affect any tissue of the body. Orbital inflammation in SLE may result in lid edema, conjunctival chemosis, congestion, and even proptosis and limited ocular motility. Eyelid swelling can also occur as a cutaneous manifestation of lupus.

Discussion: A twenty-two-year-old woman known case of systemic lupus erythematosus (SLE) with antiphospholipid syndrome presented with puffiness around both eyes and malar rash for the last two weeks after self-discontinuation of all medications for the last two months. Examination revealed pallor, malar rash, acute cutaneous LE rash over both ears, ulcer at the hard palate, periorbital puffiness, and chemosis in both eyes with normal vison, normal movement of extraocular muscles and normal fundoscopy. Investigations [Table 2] showed pancytopenia, high erythrocyte sedimentation rate (127 mm/1st hour), normal renal and thyroid function and no active sediment in urine. Contrast enhanced Magnetic resonance imaging of both orbits showed inflammation in intraconal fat along with mild pre-septal soft tissue and subcutaneous edema predominantly involving upper and lower eyelids bilaterally. Considering lupus orbitopathy, we started oral prednisolone (1 mg/kg/day) and hydroxychloroquine (200 mg/day) along with azathioprine (75 mg/day). Her periorbital edema started improving after 48 hours and within one week it resolved almost completely. Follow-up after 2 weeks had minimal periorbital swelling.
Table 1: Patient details

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Table 2: Laboratory investigations

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Conclusion: Inflammation of the intraconal fat sparing the extraocular muscles other orbital tissues helped us to diagnose orbitopathy in the case of SLE. Prompt response with corticosteroids also suggests the inflammatory nature of the orbital pathology. Early suspicion is the key to diagnose a lupus orbitopathy and immunosuppression is the key therapy which can lead to complete resolution of the condition.


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Bullous systemic lupus erythematosus – A report of two cases

G Sudhish, Rasmi Ranjan Sahoo, Pradeepta Sekhar Patro, B V Harish, A Alekhya, Ashlesha Shukla; Department of Clinical Immunology and Rheumatology, IMS and SUM Hospital, Bhubaneswar, Odisha, India



Patient 1: A 25-year-old female presented with intermittent fever, polyarthritis, recurrent oral ulcers, and pedal edema for last 7 months, and multiple vesiculo-bullous lesions involving the scalp, face, neck, ears, abdomen, and thighs for 5 days [Figure 1]a and [Figure 1]b. Urine routine examination showed proteinuria with active sediments and 24-hour urine protein was 3.5 g/day. Antinuclear antibody by indirect immunofluorescence method showed 4+ homogenous pattern and immunoblot revealed anti-smith antibody positive. Anti-double stranded DNA titer was elevated and complement levels were low. Histopathologic examination of the bullous lesion showed sub-epidermal bullae with focal neutrophilic infiltrate. She was diagnosed with systemic lupus erythematosus (SLE) with nephritis and bullous LE and administered pulse methyl prednisolone (750 mg daily) for 3 days followed by oral prednisolone alongwith monthly cyclophosphamide (500 mg/m2 BSA). She had recurrent crops of vesiculo-bullous lesions for which dapsone (100 mg/day) was started. The lesions healed gradually over next 7 days without appearance of new crops [Figure 1]c and [Figure 1]d.
Figure 1: Vesciculobullous lesions over the neck

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Patient 2: A 32-year-old female, diagnosed case of SLE with nephritis and recurrent angioedema, presented with multiple vesiculo-bullous lesions involving bilateral arms and abdomen [Figure 2]a and [Figure 2]b. She was taking prednisolone 40 mg/day and mycophenolate mofetil (2 g/day) for 1 month. Histopathologic examination of the bullous lesion revealed neutrophilic infiltration of the dermo-epidermal junction with IgG and IgM deposition. She was started with dapsone 100 mg/day following which the lesions gradually improved [Figure 2]c.
Figure 2: Vesciculobullous lesions over forearm

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Discussion: The differentials for bullous LE include bullous pemphigoid, linear IgA disease, bullous dermatitis, and dermatitis herpetiformis. Presence of neutrophilic infiltration along with immunoglobulins (IgG, M and A) and C3 deposition at the basement membrane zone characterize bullous LE. Mild disease is managed with dapsone alone whereas extensive lesions require high-dose corticosteroids along with immunosuppressive therapy including methotrexate, mycophenolate mofetil, and rituximab.

Conclusion: Bullous LE can be a manifestation of SLE and often responds to dapsone therapy.


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A rare case of NXP2 positive dermatomyositis

Radhika Jakhotia, Benzeeta Pinto; Consultant Rheumatologist, Manipal Hospital Bengaluru, India

Background: NXP-2 Dermatomyositis tend to present with severe muscle weakness, calcinosis, dysphagia, and peripheral edema. Here we present a case of a young male diagnosed with NXP2 dermatomyositis with severe disease.

Case Discussion: 28 yr male complained of gradually progressive weakness for 2 months. Patients had no history of joint pain, fever, breathlessness, difficulty in swallowing or rash. On examination, patient had MMT8 score of 64 with normal reflexes. Laboratory workup was normal except CPK which was elevated (1274 mcg/L). ANA was negative. Muscle biopsy was done s/o atrophic fibers with focal group atrophy with dense perivascular inflammation around perimysial blood vessels. Patient was given IV Pulse steroids and started on Methotrexate 15 mg once a week and discharged on oral steroids 1 mg/k/day. Myositis profile sent and was Strongly positive for NXP2 (Nuclear matrix protein 2) +++, MI 2a +, TiF 1gamma +. Patient was re-admitted within a week with complaints of severe myalgia, worsening of muscle weakness, difficulty in swallowing and subcutaneous edema [Figure 2] in arm and neck. On examination patient had developed distal weakness with rising CPK. Patient was started on IVIG (2 gm/kg) given over 4-5 days. PET CT [Figure 1] was done to rule out malignancy which showed diffuse uptake in axial and appendicular muscles and no evidence of malignancy. Patients' weakness improved and was discharged on oral steroids and Methotrexate 15 mg once a week with a plan to give rituximab if disease worsens on steroid taper.
Figure 1: PET CT showing increase uptake in axial and appendicular muscles

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Figure 2: Subcutaneous edema in arm

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Conclusion: This case adds to the evidence that NXP2 antibodies may reflect a unique phenotype of Dermatomyositis and is associated with Dysphagia, subcutaneous edema and resistant disease course.


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Pleuroparenchymal fibroelastosis in a case of systemic sclerosis with isolated anti Ro52 antibody

Veena Viswanat, B G Dharmanand; Manipal Hospitals, Bengaluru, Karnataka, India





Autoantibodies to Ro52 are one of the most common antibodies identified in a broad spectrum of systemic autoimmune rheumatic diseases but usually coexisting with other several autoantibodies depending on the clinical association. We report a case of diffuse cutaneous systemic sclerosis with isolated anti Ro52 antibody positivity and pleuroparenchymal fibroelastosis. A 32-year-old lady presented with a 16-year history of Raynaud's phenomenon, skin thickening, digital ulcers, microstomia, symptoms of GERD and skin biopsy proven scleroderma. ANA (IF) at presentation was negative but ENA was strongly positive for anti Ro52 antibody. Pulmonary function test documented a low FVC and DLCO. Echocardiogram did not reveal PAH. HRCT Thorax was suggestive of PPFE and also showed oesophageal dilatation in its entire length. ANA-IF repeated showed a speckled pattern with a titre of 1:320. An ENA immunoblot and scleroderma antibody profile was strongly positive for Ro 52 antibody and did not show the presence of any SSc related antibodies. She had significant ocular sicca and was on topical lubricants and oral pilocarpine. She was given a diagnosis of juvenile onset diffuse cutaneous systemic sclerosis with ocular sicca, pleuroparenchymal fibroelastosis and isolated Ro52 antibody positivity and is on mycophenolate mofetil, methotrexate, tadalafil, bosentan and other supportive measures. Isolated Ro52 antibody was previously thought to be an immunological marker of a mild phenotype of UCTD. Anti-Ro52 antibodies are seen in 20% of SSc patients but usually overlap with any of the other major SSc-related antibodies. These may be a marker of interstitial lung disease and overlap syndrome. This case reports the association of isolated Ro52 antibody with PPFE, a rare variant of ILD, in systemic sclerosis. The concept of overlap in SSc is elusive and the ocular sicca in our patient could be either due to a SSc related damage or an overlap syndrome


  CAS291 Top


Diffuse alveolar hemorrhage – A rare presentation in a young Indian female with systemic lupus erythematosus

Debasis Panda, Debananda Sahoo, Anupam Dey, Sujata Devi, Arpita Dash; Department of General Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

Background: Systemic Lupus Erythematosus is an autoimmune disorder with multiorgan involvement and female predilection. Pulmonary Manifestations include pericarditis, pericardial effusion, pneumonia, shrinking lung syndrome, pulmonary embolism etc. One of the rare manifestations of SLE is diffuse alveolar haemorrhage occurring in 1% patients. In DAH, there is inflammation of alveolar capillaries with bleeding from pulmonary vasculature resulting in dyspnoea and ventilation perfusion mismatch. It carries high mortality around 62% despite multiple treatment options. We present a case of 16-year female presenting with fever/cough/dyspnoea and later diagnosed to have DAH and successfully treated.

Case Report: A 16-year-old female presented to our hospital with complaints of low-grade fever, small joint pain for 1 month, dyspnoea and cough with scanty expectoration since last 15 days. On presentation patient had multiple rashes in extremities and vitals were stable with sinus tachycardia and RR-26/Min. Basic laboratory evaluation revealed Hb of 9.6 g/dl with platelets 2.8 L and TLC was 2800/mm3, renal and liver function were normal. Direct Coombs test was positive, immunological analysis revealed low C3 and C4 and ANA immunofluorescence positive with 1:320 and fine speckled pattern. During hospital course patient developed increasing dyspnoea, oxygen requirement, haemoptysis and shifted to ICU and connected to NIV. HRCT thorax revealed multiple GGOs in bilateral lung fields. BAL revealed haemorrhagic fluid was obtained. She was diagnosed as a case of DAH and given pulse steroid methylprednisolone 1 gram /day for 5 days and cyclophosphamide 750 gram (1st dose). Patient stayed in ICU on NIV for 7 days with monitoring and gradually improved.

Discussion and Conclusion: DAH is a life-threatening disease with high mortality rate. Aggressive treatment and early diagnosis are cornerstone for survival. Our patient improved with pulse steroids and cyclophosphamide. Other treatment options include plasma exchange and rituximab.


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Scleredema adultorum of buschke: Case series

K N Sangeetha, Yogesh Preeth Singh1, Shivaprasad2; Manipal Hospital, 2Apollo Hospital, Mysuru, 1Manipal Hospital, Bengaluru, Karnataka, India

Objectives: To describe cases of Scleredema associated with long standing diabetes, its characteristics and review of literature pertaining to its management.

Background: Features of scleredema adultorum of Buschke, its workup and management are poorly documented.

Discussion: Scleredema is a rare sclerodermiform fibromucinosis which predominantly affects the upper body, sparing the hands and feet. Depending the aetiology, it is of 3 different types. Type 1 is secondary to infections, while 2 and 3 are secondary to longstanding diabetes and monoclonal gammopathies respectively. Here, we present 4 cases [Table 1] of Scleredema adultorum of Buschke. All of them were males. They were all diabetics, for around 10 years, none of them had Raynaud's or other autoimmune features. They all underwent biopsy of the skin lesion and confirmed scleredema. They were initiated on immunosupressants, along with good control of diabetes. However, found no good response, on follow up for one year. They were lost to follow up.
Table 1: Patient particulars

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Conclusion: Scleredema must be suspected in patients presenting with diffuse skin thickening especially of upper body and sparing hands and feet. Prompt diagnosis, evaluation for monoclonal gammopathy, underlying autoimmunity and prompt control of diabetes must be the mainstay of evaluating these cases.


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A rare coexistence of ankylosing spondylitis and systemic lupus erythematosus

Nitin Agrawal, Adam Nelson1, Debashish Mishra2, S S Nelson, Sanjay Pande2; Departments of Medicine and 2Radio-Diagnostics, NSCB MCH, Jabalpur, Madhya Pradesh, India, 1Royal Victoria Hospital, Belfast, Northern Ireland, UK

Background: AS and SLE, which have different etiopathogenesis and different clinical and genetic characteristics, are rarely seen together. There is a limited number of reports about the coexistence of these two diseases. Here, in this study, we describe a male patient with the coexistence of AS and SLE

Case Report: A 29-year-old male presented to the outpatient clinic of general medicine with inflammatory back pain: He was tested HLA-B27 positive and was prescribed tofacitinib (JAK inhibitor). After initiation of treatment he developed rash, pancytopenia and mouth ulcers, where were thought to be due to drug reaction of tofacitinib, and the medicine was stopped. On further evaluation, his ANA was positive with 2+intensity, speckled pattern, titre of 1:160 by indirect immunofluoroscence. He was started with low dose steroids and antihistaminic along with NSAIDs for ankylosing spondylitis. A provisional diagnosis of AS with drug reaction was considered; His symptoms disappeared in a month and he discontinued treatment. He returned after 3 months with vasculitic rash, oral ulcers, leukopenia and active urinary sediments with RBCs granular casts and proteinuria and his anti-dsDNA levels were high. He was started on hydroxychloroquine and steroids. MRI showed sub-chondral sclerosis on the iliac side of both sacro-Iliac joints whereas, CT showed sub-chondral sclerosis with associated erosion. A final diagnosis of SLE with co-existent AS was considered and the patient was referred to the nephrologist for renal biopsy.

Discussion: Coexistence of AS and SLE is very rare, with a limited number of cases reported in the literature. AS is frequently seen in male patients and SLE is frequently seen in female patients. Coexistence of these two diseases is predominantly reported in female patients and in the majority of the cases complaints related to AS and diagnosis of AS was before the diagnosis of SLE. Our patient was a male with inflammatory low back pain, HLA-B27 positivity and bilateral active sacroiliitis, confirming the diagnosis of AS based on the ASAS classification criteria. SLE was diagnosed according to EULAR/ACR criteria. In the literature, there are very few reports with various combinations of AS with findings of SLE such as hematological and renal involvement, malar rash, ANA, anti-dsDNA, hypocomplementemia, thrombocytopenia, and leukopenia.

Conclusion: It is a case of SLE with spondyloarthropathy of which only one case reported in India and 10 overall in the literature worldwide.


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Acute renal failure as the initial presentation of Sjogren's syndrome

Upendra Rathore, Neha Kumari1, Neha Nigam1, Vikas Agarwal, Durga P Misra; Departments of Clinical Immunology and 1Pathology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Background: Sjogren's syndrome is a multi-system disease with varied presentation. Renal involvement is less common, tubulointerstitial nephritis being commonest manifestation has a chronic and insidious course. Acute renal failure as an initial presentation of Sjogren's syndrome is rare and we present a similar case which was detected early and managed.

Presentation: A 52-year-old female presented with generalized weakness, easy fatigability, anorexia, low grade fever along with sudden onset oliguria of 1 month duration. On examination, she had no features of fluid overload, however had hypertension along with oral sicca with no other features of connective tissue disorder. Schirmer's test was positive in B/L (right: 3 mm, Left: 2 mm) eyes. Her baseline BUN and creatinine were 75 mg/dl and 8.6 mg/dl respectively requiring haemodialysis. Her 24 hr urinary protein was 777 mg/dl and renal biopsy revealed acute on chronic tubulointerstitial nephritis [Figure 1]d. USG parotids was normal, ANA/ENA were negative. Minor salivary gland biopsy was consistent with Sjogren's syndrome with a focus score of >1 [Figure 1]a. She was started on 1 mg/kg steroids and showed remarkable improvement with normalisation of creatinine (0.79 mg/dl) with clinical improvement over three months; currently on prednisolone 7.5 mg/day and doing well.
Figure 1: Renal biopsy

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Discussion: About 30% of patients with Sjogren's syndrome have renal involvement, typically manifesting as renal tubular acidosis or interstitial nephritis. Our case had acute renal failure as first manifestation of disease, highlighting the importance of varied clinical presentation. Renal involvement may precede sicca symptoms & Sjogren's syndrome should always be kept in mind.

Conclusion: Renal involvement may precede sicca symptoms, but Sjogren's syndrome should always be kept in mind.


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A wolf in sheep's clothing – A case of tumour-induced osteomalacia as a cause of chronic low back pain

Debaditya Roy, Abhishek Patil1; Department of Clinical Immunology and Rheumatology, Clinical Immunology and Rheumatology Resident, Institute of Postgraduate Medical Education and Research (IPGMER), Kolkata, West Bengal, 1Department of Rheumatology, Manipal Hospitals, Bengaluru, Karnataka, India

Background: Hypophosphatemic osteomalacia (HO) is a rare metabolic disease characterized by low concentrations of serum phosphate levels, which often leads to reduced mineralization of the bone matrix. It may present as chronic low back pain & may be misdiagnosed.

Discussion: 42 years old male presented with history of polyarthralgia involving both small and large joints, especially ankle pain and low back pain for last 2 years. He initially visited a local physician who prescribed Etoricoxib and Sulfasalazine. He also received adalilumab monthly for 4 doses with no symptom relief. Investigations showed a raised alkaline phosphatase (ALP) 346 U/L and low 25-OH Vitamin D (18 ng/ml). HLA-B*27 was negative with normal ESR and CRP. Radiographs showed no features of sacroiliitis/fracture. RI Sacroiliac joints [Figure 1] demonstrated an insufficiency fracture followed by a metabolic evaluation which revealed a low serum phosphorus of 1 mg/dl and increased urinary phosphate of 22.3 mg/dl with a normal serum PTH level. Renal phosphate wasting was further established by calculating TmP/eGFR levels of 0.78. A possibility of Tumor induced osteomalacia was considered and he underwent a whole body Ga68 DOTANOC PET/CT evaluation which revealed a soft tissue density lesion in the left anterior ethmoidal sinus likely representing a phosphaturic mesenchymal tumor. Surgical excision was done & biopsy suggestive of benign spindle cell neoplasm. Further oral phosphate supplementation resulted in normalization of phosphorus levels over the next few weeks to 2.5 mg/dl with significant relief of his baseline symptoms of low back pain and polyarthralgia. He is doing well on follow-up.
Figure 1: MRI showing multiple linear low signal intensities in left sacral ala (b), calcaneum and distal tibia (a) with surrounding bone marrow oedema

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Figure 2: (a) Whole Body Ga68 DOTANOC PET/CT scan showing increased somatostatin receptor expression in soft tissue density lesion (1.4 cm*1.2 cm) in the left anterior ethmoidal sinus (SUV-15.5) likely representing a phosphaturic mesenchymal tumour. (b) Haphazard appearing spindle cells with bland appearing oval nucleoli suggestive of spindle cell neoplasm

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Conclusion: Metabolic workup is warranted in a case of refractory chronic low back pain. Surgical excision remains the treatment of choice for Tumor induced osteomalacia. However, cases of recurrence have been documented even after initial relief, hence close monitoring and follow-up is needed in these patients.


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Parotid benign lymphoepithelial cyst (BLEC) in connective tissue disease – Rare case series

P Nachammai, N Subramanian1, G Arunkumar2; CRRI, Madurai, 1Velammal Medical College Hospital and Research Institute, Madurai, 2Aarthi Scans, Tamil Nadu, India

Introduction: Benign lymphoepithelial lesions are swellings of salivary glands caused by a reactive lymphoid infiltrate with follicular hyperplasia, obliterating the acinar glands. These have been found in HIV, lymphoma and Sjogren syndrome. We report a case series with Mixed Connective tissue disease/Sjogren.

Case Reports [Table 1]: Index patient: A 25 year old lady presented with a history of arthralgia, fatigue, Raynaud's and diagnosed by rheumatologist to have MCTD with ANA showing U1RNP, Ro positive and histones antibody positive. She was managed with mycophenolate. She now experienced painful swelling in the parotid region. Blood counts remain normal, ESR 36 mm/hr, CRP 6 mg/dl, ACE level, HIV screening normal. MRI parotid showed bilateral multiple lymphoepitheial cysts (BLEC) in the parotid glands. Oncology [Figure 1] opinion and ENT surgeon opinion obtained. No evidence of malignancy. In view of this BLEC, consensus opinion among rheumatologists was to switch to rituximab and stop mycophenolate and now given 2 gm Rituximab.
Figure 1: Coronal and sagittal image of MRI Neck and Parotid showing multiple cysts – replica of lymphoepithelial cysts in the right parotid

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Table 1: Profile of 3 patients with evidence of lympho epithelial cysts in the parotid

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Discussion: BLEC – Benign lymphoepitheial cysts have been described in patients with sarcoidosis, HIV, cancer and CTD. Our patients had features of MCTD with Sjogren syndrome and manifested with benign lymphoepithelial cysts in the parotids making it very unusual. As per literature review, this is the first case series of BLEC in Mixed connective tissue disease/Sjogrens.

Conclusion: Parotid swelling in CTD requires evaluation and multidisciplinary input. Benign LE cysts will not require surgery and may need modification of immune therapy. Rituximab may help in BLEC with MCTD and Sjogren.


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Is it sarcoid or disseminated CMV infection?

Gangarathna Krishna; AJ Hospital, Mangalore, Karnataka, India

Case: 46-year-old previously fit and well male presented to respiratory unit with 2 months history of recurrent fevers, dry cough, 10 kilo weight loss, polyarthralgia and hoarseness of voice. He had pallor, generalized weakness, a plaque in infraumbilical area. Bloods showed anaemia, deranged LFTs, raised inflammatory markers. Hepatitis B, C, HIV, ANCA and ANA profile were negative. PET CT showed sub centimeter lymphadenopathy, not accessible for biopsy through bronchoscopy. Serum ACE levels were raised at 90. Skin lesion biopsy showed calcinosis cutis. Diagnosis of sarcoidosis was made. Prednisolone 30 mg was started and tapered to 10 mg in 3 weeks. He recovered on steroids both clinically and in blood parameters. On reducing the steroids below 10 mg, he noticed swelling in left knee and floaters in left eye. Ophthalmologist confirmed the diagnosis of CMV retinitis and started on intravitreous gancyclovir injection. Repeat HIV serology were negative. CD4 count was normal. Serum CMV DNA levels were high. Left knee aspirate and culture showed staphylococcus aureus. 2 of 3 blood cultures were positive for staphylococcus aureus. ECHO was normal. Patient was diagnosed to have disseminated CMV with septic arthritis of left knee. Prednisolone was stopped. He was admitted and knee washout were carried out. Intravenous antibiotics with intravenous ganciclovir were given for 2 weeks followed by oral antibiotics and oral ganciclovir for 4 weeks. Patient has improved and is back at work.

Discussion: Management of sarcoidosis involves assessment for multiorgan disease with initial treatment with corticosteroids. Cytomegalovirus (CMV) infection is commonly seen in immunosuppressed individuals. Our patient had sarcoidosis diagnosis in the absence of common infections, malignancy and vasculitis.

Conclusion: CMV infection and septic arthritis although rare can occur after a brief course of steroids. We have to be watchful of opportunistic infections and revisit our diagnosis and management.


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A whole new ball game!

Ramya Puligari, S C Mouli, Amirtha Gopalan, Ruby Taparia, Sreeharsha Vedula; KIMS Hospital, Hyderabad, Telangana, India

Case Report: A 39 year old male, with gradually progressive exertional dyspnoea, erythematous painful nodular lesions on lower limbs along with high grade intermittent fevers, elevated inflammatory markers (ESR:110, CRP:58), ill-defined GGO's on HRCT Chest was treated as viral pneumonitis at a local hospital. He was symptom free for few days and later developed Left epididymo-orchitis with hydroureteronephrosis. Now he presented to our OPD in April 2022 with recurrent fevers, right eye periorbital swelling with normal visual acuity, weight loss of >20 kgs over 6 months. MRI Brain was s/o inflamed and heterogeneously enhancing right conal ocular muscles and fat planes with involvement of right optic nerve. Ophthalmologist opined as resolving right eye orbital cellulitis. Blood investigations revealed no cytopenias, ESR: 45, RF, ANA IF, Anti dsDNA, ANA profile, C-ANCA, P-ANCA, MPO, PR3, ACE: Negative, C3, C4 normal. Infective work up negative, serum Immunoglobulins normal, serum IgG4 levels under normal limits and a normal 2D Echo. Right eye swelling resolved completely in 5 days though fever spikes continued. Meanwhile, he developed left eye periorbital swelling and also synovitis of left 2-5th PIP joints. PET CT [Figure 1] was s/o hypermetabolic soft tissue and mural thickening involving the right common carotid artery bifurcation, proptosis of left eye globe with bulky extra ocular muscles and ill-defined extraconal fat stranding with pre-septal edema in left orbit and minimal pericardial effusion along with diffuse uptake in bone marrow [Figure 2] likely RES. Cervical LN biopsy was unremarkable. Bone marrow revealed few large atypical cells with vacuolations, early erythroid cells. Due to unprovoked episodic nature of the disease Systemic autoinflammatory disorder was thought of, recently VEXAS (vacuoles, E1 enzyme, X-Linked, auto inflammatory, somatic) has been described with vacuolations hence his, UBA1 gene mutation was tested. The patient's genomic sequencing revealed somatic mutation in UBA1 c.122T>C (p. Met41Val) pathogenic of VEXAS. He was initiated on oral steroids (20 mg of prednisolone) and Methotrexate to which he responded very well.
Figure 1: Whole body FDG 18 PET–CT

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Figure 2: Bone marrow biopsy showing vacuolations

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Discussion: Male sex, age of onset between 45 to 80 years, macrocytic anemia and refractory inflammatory state with lack of sustained response to traditional DMARD's should further prompt to critically consider and investigate the possibility of VEXAS syndrome.

Conclusion: In conclusion, VEXAS syndrome is a clinically heterogeneous, treatment-refractory inflammatory condition, hence early recognition and diagnosis may lead to a better prognosis and targeted treatments in the near future.


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Pan coronary artery involvement in Kawasaki disease: A unique radiological entity on computed tomography coronary angiography

Abarna Thangaraj, Himasnhi Chaudhary, Rakesh Kumar Pilania, Manphool Singhal1, Surjit Singh; Department of Pediatric Allergy and Immunology, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, 1Department of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Introduction: Kawasaki disease (KD) is the commonest childhood vasculitides. Computed Tomography Coronary Angiography (CTCA) is superior in picking up coronary artery aneurysms (CAAs) compared to 2D Echocardiography (2DE). CAAs involving all 3 coronary arteries (pan-CAAs) represent a severe spectrum of KD.

Objectives: To study the prevalence of pan coronary artery aneurysms in our cohort and to analyze the difference in CTCA and 2DE in identifying pan-CAAs.

Materials and Methods: We have reviewed records of children who were diagnosed with KD and underwent CTCA from November 2013 to April 2021. Patients with KD who had CAAs in all 3 coronary arteries were included in this study.

Results: CTCA was done in 215 patients with KD. Of these, 13 (6.04%) patients were noted to have pan-CAAs. The mean age at diagnosis was 7.4 years (range: 4 months-13 years). Out of these 13 patients, 3 patients satisfied the clinical criteria for Multisystem inflammatory syndrome associated with coronavirus disease-2019 (MIS-C). All CTCAs were performed in the acute state. CAAs were in the form of aneurysms (saccular in 7, fusiform in 32). Thrombosis was noted in 4 coronary arteries. 2DE demonstrated left main coronary artery (LMCA) abnormalities in 12 (92.3%), left anterior descending (LAD) abnormality in 13 (100%), right coronary artery (RCA) abnormalities in 11 (84.6%) and left circumflex artery (LCX) abnormalities in 5 (38.4%). Distal coronary artery aneurysms (5) and luminal thrombi (2) diagnosed on CTCA was missed by 2DE. All children received IV Ig (2 g/kg), in- addition 12 children received infliximab (5 mg/kg). Pulse corticosteroids (10 mg/kg for 3 doses) were given to children with MIS-C. All children received tapering doses of corticosteroids and aspirin (3-5 mg/kg/day). Anticoagulants were added to patients with giant aneurysms and/or thrombosis.

Conclusions: Pan-CAAs in KD is better diagnosed by CTCA. Although 2DE is limited in identifying the distal extent of CAAs or distal CAAs and complications like thrombosis.


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Scleral involvement in IgG4 related diseases

Hima Sreekumar, S R Lekshmi, Vishad Viswanath, Anjana G Varier; Institute for Rheumatology and Immunology Sciences, Thiruvananthapuram, Kerala, India

Background: IgG4-related disease is an immune mediated fibro- inflammatory condition involving multiple organs including pancreas, orbit, retroperitoneum, lacrimal, salivary glands and other organs. We present 2 patients of IgG4-related diseases with scleral involvement.

Patient 1: 25-year-old lady known case of right eye ocular myasthenia with history of recurrent episcleritis and one episode of interstitial keratitis of right eye. She had recurrence on topical steroids. She was started on systemic steroids from ophthalmology and referred to our centre. On evaluation her IgG4 Levels were elevated. Scleral biopsy was deferred due the increased risk of surgically induced scleral necrosis. MRI orbit revealed preseptal inflammation and mild thickening of lacrimal gland on left eye. She was diagnosed as possible IgG4 -related disease. Azathioprine was started along with tapering doses of steroid and led to significant improvement in her signs and symptoms. This case highlights the significance of IgG4-RD in the differential diagnosis of episcleritis.

Patient 2: 60-year-old lady, presented with pain and redness of left eye diagnosed and not relieved on topical steroids. Her IgG4 levels were elevated. Mantoux, Angiotensin converting enzyme, ANCA profile was negative. MRI Orbit was normal. She was diagnosed as IgG 4 -related disease. She had dramatic improvement of signs and symptoms on oral steroids.

Conclusion: These two cases highlight the significance of IgG4-RD in the differential diagnosis of episcleritis and scleritis.


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A challenging pregnancy in systemic lupus erythematosus (SLE)

Pravin S Jain1,2, Mallikarjun Khanpet1; 1KLE's Dr. Prabhakar Kore Hospital and Medical Research Centre, 2Department of General Medicine, Jawaharlal Nehru Medical College, Belagavi, Karnataka, India

Systemic lupus erythematosus (SLE) is an autoimmune disease with multi-organ involvement. Disease flare during pregnancy like lupus nephritis remains a big challenge in diagnosis and its management. If not prompt, it can lead to various poor outcome both for mother and foetus. Here is a case of SLE in a pregnant woman who was diagnosed to have lupus nephritis and treated according. 23-year-old lady had amenorrhoea since last 6 months (G2P1L1). She was referred for pedal edema, proteinuria and anemia. She had bilateral leg swelling including vulval, abdominal wall to the extent that it made her thighs rub during walking. Serous fluid oozing was significant even through minor abrasions. She denied any other symptoms. First pregnancy was full term normal vaginal delivery (FTNVD) with no complications. On examination: Pallor, Facial puffiness (+), Pedal edema (pitting) including vulval and abdominal wall; PA- Uterus- 28-30 size, relaxed, FHS- 142BPM; Other systems- not significant. Investigations: Hb- 10.3, Creatinine- 0.6, S. Albumin- 1.5; 24 hrs urine protein- 2.5 gms/ day; Urine protein- creatinine ratio (spot)- 5; ANA profile- Anti-Ro, Anti-Sm, Low C3; Urine- albumin +++, RBCs-4-5.

Course: This pregnant lady was diagnosed to have Lupus nephritis based on proteinuria, autoantibody profile, low C3. Incremental doses of I.V diuretics and I.V albumin for anasarca were given with mild response. Fluid intake was restricted upto 500 ml/ day. In view of Anti- R0 (+) she underwent regular foetal echo-cardiography and were normal. With suspicion of class IV-V lupus nephritis she was given pulse methyl prednisolone, tacrolimus and supportive therap. She was detected to have COVID RAT(+) during pulse steroid therapy and was managed without complications. She delivered female child- 1.5 kg through LSCS. Overall, she lost extra upto 8 kg following diuresis. Later renal biopsy revealed Focal proliferative glomerulonephritis with diffuse membranous glomerulonephritis, class III (A/C) +class V. On F/U of 1 year both mother and child are healthy.



Discussion: This case highlights the difficulties faced in a pregnant lupus patient. Judicial use of diuretics can be done with close monitoring of foetus for oligohydramnios and other issues. SLE flare along with concurrent infection can be well treated. Multidisciplinary approach in such cases always leads to better outcome.


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A rare and novel mutation in SLC23A9 in a girl with suspected DADA2 syndrome

G P Abhishek, Nikhil C Gowda, Dhanya Lakshmi1, Amita Aggarwal; Department of Clinical Immunology and Rheumatology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 1Department of Medical Genetics, Kasturba Medical College and Hospital, Manipal, Karnataka, India

Background: The SLC29A3 gene, found in intracellular membranes codes for a nucleoside transporter protein. Mutations in this gene can present with varying manifestations described as H syndrome, pigmented hypertrichosis with insulin dependent diabetes, sinus histiocytosis with massive lymphadenopathy. We report a rare case of SLC29A3 spectrum disorder who presented as vasculitis.

Case Presentation: 17-year-old girl presented with 3 months history of pre-gangrenous lesions in fingers and toes [Figure 1]. This was associated with anorexia and weight loss. She had history of sensory neural hearing loss following an episode of seizure at the age of 4 years. Patient had BMI of 15.3 kg/m2. Her BP was 130/94 mm of Hg. All her peripheral pulses were equal. A possibility of early onset Polyarteritis nodosa (PAN) due to ADA2 deficiency was considered. She had anemia, leucocytosis and elevated CRP. Her ANCA, ANA, ENA, Cryoglobulins, APLA profile, Lupus anticoagulant were negative. 2D echocardiography was normal. Nerve conduction study showed bilateral sensorimotor polyneuropathy. Vascular Doppler of upper and lower extremities and renal arteries was normal. CT angiography showed areas of cortical scarring possibly renal infarcts [Figure 2]. Patient was treated with EUVAS protocol with pulse methylprednisolone and IV cyclophosphamide. Patient had partial response and developed 2 new pre-gangrenous lesions during 9 cycles of Cyclophosphamide. On Whole exome sequencing she had two variants in SLC29A3 gene, c.73C>T in exon 2 (stop gain variant) and c.1+5G>T in intron 1 (affects Splicing) in compound heterozygous state inherited from mother and father. She was initiated on tofacitinib and is doing well.
Figure 1: Pregangrenous change in left foot

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Figure 2: CT angiography showing renal cortical infarcts

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Conclusion: Vasculitis has not been reported among the spectrum of SLC29A3 phenotype. Our patient only had SNHL among the various described manifestations of SLC29A3 spectrum disorder. This mutation should be considered in patients presenting with autoinflammatory phenotype.


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A rare case of anti-SRP positive necrotising myopathy responding to rituximab

Tarini P Dandasena, Vaibhav Ingle, Vishnu N Mishra, Abhishek Singhai; Department of General Medicine, AIIMS, Bhopal, Madhya Pradesh, India

Background: Necrotising myopathy, is a type of inflammatory myopathy, which can be due to underlying connective disorder especially scleroderma or mixed connective tissue disorder, malignancy or it can be idiopathic. Two definite forms of immune mediated necrotising myopathy are identified, which are associated with specific autoantibodies namely anti-3-Hydroxy-3-methyl-glutaryl-coenzyme reductase (anti-HMGCR) and anti-signal recognition particle (anti-SRP). Usually these patients present with acute to subacute onset of proximal symmetric weakness like other types of myopathy, hence challenging situations arise before clinicians.

Case Discussion: We report a 59 years old female patient, who was anti-SRP positive, presenting with myalgia, weakness in all four limbs. Biochemical analysis showed a significantly elevated creatine phosphokinase (CPK) level (>7800 U/L) with thrombocytopenia. In hospital patient developed neck weakness, dysphagia then dysarthria. Muscle biopsy showed scattered necrotic fibres along with occasional myophagocytic activity and minimal mononuclear cells infiltrate suggestive of immune mediated necrotising myopathy (IMNM). Serology for ANA profile came to be negative and serology for myositis profile showed strongly positive (3+) anti-SRP autoantibody, diagnostic for an IMNM associated with anti-SRP. CECT thorax revealed early changes if interstitial lung disease (ILD). The patient was treated with corticosteroids, azathioprine, methotrexate and intravenous immunoglobuline (IVIg). But no improvement in muscle weakness. Subsequently Rituximab had been given. In hospital patient developed type II respiratory failure for which she was intubated and later tracheostomised. Subsequently her CPK levels, proximal muscle weakness, pain and platelet count gradually improved.

Conclusion: This rare case of anti-SRP IMNM patient has more severe muscle involvement along with extra muscular features due to presence of this ribonucleoprotein in all protein processing cells. In our case the age of patient is near 60 year. Most severely affected patient as in our case may require Rituximab therapy in order to prevail clinical response. IVIg may be less useful in anti-SRP positive IMNM compared to anti-HMGCR variants.


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Subacromial subdeltoid rice body bursitis in rheumatoid arthritis treated with local steroids

Danveer Bhadu, Surabhi Vyas1, Rudra P Goswami, Uma Kumar; Departments of Rheumatology and 1Radiodiagnosis, All India Institute of Medical Sciences, New Delhi, India

Background: Traditionally rice body formation was seen in tubercular arthritis or tenosynovitis. However, apart from tuberculosis it can be seen in rheumatic diseases such as RA, OA, SLE and SpA. The pathogenesis of rice body formation is not very clear yet, but some theories support chronic inflammation in the synovium leading to synovial shedding.

Discussion: Recently, a 29-year-old woman, diagnosed as case of seropositive RA since 2014 presented with progressive painless swelling of the right shoulder for 2 years. She was on adequate treatment with oral methotrexate 20 mg/week and hydroxychloroquine 5 mg/ kg. Her disease was in remission except the right shoulder swelling [Figure 1]. On examination it was soft and non-tender. MRI showed a large volume lesion (88 × 107 × 30 mm with 141 cc) having numerous tiny well-defined oval bodies, showing intermediate signal on T1-weighted images and relatively low signal on T2-weighted sequences, suggestive of rice body shoulder [Figure 2]a,[Figure 2]b,[Figure 2]c. She was referred for biopsy and surgical removal; however, surgical removal and biopsy was deferred in view of the ongoing COVID-19 pandemic. After multidisciplinary discussion and keeping in mind the patient's wishes regarding cosmesis, local steroid injection was considered. The distended bursa with rice bodies was injected with 80 mg methylprednisolone acetate under ultrasound guidance which was repeated after a month. Six months later, she reported near complete resolution of the shoulder swelling [Figure 2]d,[Figure 2]e,[Figure 2]f.
Figure 1: Right shoulder swelling

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Figure 2: Rice bodies in subacromial subdeltoid bursa in a case of rheumatoid arthritis. Coronal T1-weighted (a), coronal T2-weighted flow-sensitive (FS) (b) and sagittal proton density (PD)-weighted (c) magnetic resonance images (MRI) at presentation reveal hypo- to isointense rice bodies (*) in the right shoulder bursa (arrow). (d-f) Follow up MRI (coronal T2-weighted FS, coronal PD-weighted, sagittal T2- weighted FS) show marked reduction in the size of the bursa and the rice bodies within

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Conclusion: To the best of our knowledge this is the first case report in the literature showing significant regression of rice body shoulder with the use of local steroids without any relapse or complication. Response to local steroid therapy strongly favors the hypothesis of their inflammatory origin.


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NXP2-associated calcinosis predominant hypomyopathic dermatomyositis: A new subgroup of juvenile inflammatory myositis?

Sanjib Mondal, Pallavi Nadig, Suprit Basu, Abarna Thangaraj, Aditya Dod, Ravinder Garg, Pandiarajan Vignesh, Amit Rawat, Surjit Singh; Department of Paediatrics, Advanced Paediatric Center, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Background: Juvenile dermatomyositis (JDM) is most common variety amongst inflammatory myositis in children. Several subgroups of JDM such as amyopathic dermatomyositis and hypomyopathic dermatomyositis have been described previously. None of the classification criterias included calcinosis at presentation.

Objectives: To describe a possible new subset of patients with JDM who presented with predominant calcinosis in absence of overt myositis and classical cutaneous features of JDM.

Results: Four children (2 girls) presented with diffuse calcinosis over variable body sites. None had clinically obvious muscle disease. Evidence of heliotrope rash was seen in one patient, however, none had gottron papules or other cutaneous manifestations of JDM. Median age of onset of calcinosis was 2 years (range 2 to 8 years). Mean duration of symptoms before presenting to us was 23.25 months (range 9 to 48 months). All had normal muscle enzymes, calcium and phosphate, C-reactive protein and erythrocyte sedimentation rate. One child had positive speckled antinuclear antibody (ANA). Myositis immunoblot showed significant positivity (2+ or more) for anti-NXP2 antibody in 3 children. The other child had no positivity for any of the 16 myositis autoantibodies, however, the test was performed after many years of immunomodulatory therapy. All had diffuse calcinosis on X-ray. All patients underwent magnetic resonance imaging of bilateral thigh muscle which showed bilateral patchy muscle hyperintensity. Nail fold capillaroscopy showed vasculopathic changes of JDM in all. All were treated with different combination of immunosuppressants and showed clinical response. None of them developed new calcinosis during median 1-year follow-up.

Conclusion: We report calcinotic nodules as a predominant presenting manifestation in 4 of our patients with JDM without muscle weakness and characteristic skin lesions. Our observation raises possibility for a newer subgroup of JDM- “NXP2 associated calcinosis predominant hypomyopathic dermatomyositis (NACPHDM)”.


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New onset post COVID autoimmune rheumatic disease

K Shanmuganandan; Sree Balaji Medical College, Chennai, Tamil Nadu, India

Background: The worldwide evolution of COVID pandemic has brought forth an array of novel and modified clinical profile of patients worldwide. It has been observed that immunoinflammatory diseases develop post COVID.

Objectives: To study the clinical profile of new onset autoimmune rheumatic diseases developing within 12 weeks post COVID.

Methods: Patients: All patients developing new onset autoimmune rheumatic diseases within 12 weeks of COVID infection; documented clinically or by investigations were included in the study. Period of study: 30 months. Study setting: tertiary care academic medical center of metropolis. Type: Observational study.

Results: 32 patients developed autoimmune rheumatic disease in the study period. Average age: 38 years. Distribution: Rheumatoid arthritis 9; Poly myalgia Rheumatic:2; Reactive Arthritis :7; systemic vasculitides :4; Inflammatory; myositis:5; Sarcoidosis 2; UCTD:3.

Conclusions: COVID accelerates or induces the occurrence of systemic rheumatic disease.


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Felty syndrome

J Bhavya, Dinesh Kumar Gautam, Ankita Dewangan, Kailash Kumar, Nilesh Kumar; Department of General Medicine, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Case Discussion: A 60-year-old female patient known case of rheumatoid arthritis for last 15 years, off medication for last 4-5 years, presented with complaints of joint pain and easy fatiguability. Patient also complained of 2 episodes of pneumonia and Urinary tract infection (UTI) in last year. On examination pallor, splenomegaly was present and rheumatoid nodule were palpable on olecranon process. On investigation, pancytopenia, liver and reanl functions wnl. CRP-8 mg/dl, qRA-148 IU/ml, Anti CCP-2421 U/ml, IgM serum-193 mg/dl, ANA, DsDNA, chronic viral markers, Montoux was Negative. USG abdomen- Normal Liver echotexture with moderate splenomegaly, Bonemarrow aspiration- Myeloid hyperplasia with increased immature mononuclear cells with left shift and rare mature neutrophils, did not show any evidence of large granular lymphocytic (LGL) or lymphoproliferation. A diagnosis of FS was made.

Discussion: Felty syndrome (FS) is a rare condition, seen in 1–3% of chronic active RA patients, more common in women usually during fifth to seventh decade of life. Patients develop extraarticular features of hepatosplenomegaly and leukopenia (neutropenia).

Conclusion: FS is a clinical diagnosis and there is no specific diagnostic test for it. FS includes a triad of chronic RA, hepatosplenomegaly, and neutropenia (<1500). The neutropenia should be persistent and should not be explainable by concurrent illnesses or drug therapy. Basic pathogenesis is underproduction of neutrophils and autoantibodies to neutrophils, which leads to antigen–antibody complexes which aggregate in spleen and cause splenomegaly. FS patients have recurrent infections and has a poor prognosis and high mortality. There is no definitive treatment for FS, management is supportive and directed towards controlling the underlying RA while also improving the neutropenia. DMARDs, biologicals presumed to reverse underlying abnormalities in the immune and reticuloendothelial systems are used. Patients resistant to conventional therapy may go for splenectomy.


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Catatonia in systemic lupus erythematosus: A report of two cases

M Mahabaleshwar, P S Arul Rajamurugan, S Ramesh, S Mythili, S Revanth; Department of Clinical Immunology and Rheumatology, Madras Medical College, Chennai, Tamil Nadu, India

Background: The prevalence of NPSLE varies between 37-95% in various case series. While catatonia was not included in ACR case definitions, there have reports of Catotonia in SLE. The diagnostic and statistical manual of mental disorders, DSM-5 defines catatonia when ≥ 3 of the following is present-agitation, grimacing, mannerisms, posturing, stupor, stereotypy, negativism, mutism, waxy flexibility, cataplexy, echolalia and echopraxia. We hereby report 2 cases of SLE which catatonia in SLE.

Case 1: 15-year-old male presented with fever, bleeding from gums, Malena for 7 days. His details are mentioned in [Table 1]. He was pulsed with Methyl Prednisolone along with platelet transfusions. Later he was started on dexamethasone. His platelet count improved. He was planned for discharge. Immunosuppression was planned during follow up. On the day of discharge, he developed altered sensorium in the form of decreased speech and interaction with family members, inability to recognize relatives, decreased oral intake, grimacing, posturing. He had an episode of generalized tonic clonic seizures. He was diagnosed with catatonia. He was treated for SLE associated catatonia with injection Methylprednisolone followed by Cyclophosphamide (NIH protocol). He was given lorazepam 6 mg/day in divided doses along with antiepileptics.
Table 1: Case details

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Case 2: A 14-year-old female was diagnosed with SLE 2 years back. She presented initially with hairloss, oral ulcers, constitutional symptoms and later during follow up she developed breathlessness. 2D Echo showed Global LV hypokinesia (EF 40%). She was started on injection Cyclophosphamide (NIH protocol). She was lost for follow up later. Now she presented with catatonia features for 1 week. Her details are in [Table 1].

Discussion: Both showed clinical improvement and are on regular follow up. 35 cases of catatonia with SLE have been described so far. There are no guidelines for management of Catatonia in SLE. The psychomotor features of catotonia should be recognized at the earliest. Antipsychotics should only be used when catotonia has been ruled out.


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Post COVID-19 unilateral sacroiliitis

Shubham Jain, Dhiraj Kishore, Amita Diwaker1, Abhishek Kumar Rai; Departments of General Medicine and 1Obstetrics and Gynaecology, Institute of Medical Sciences, BHU, Varanasi, Uttar Pradesh, India

Background: COVID-19 has spread across the globe after its first case was identified in Wuhan. Not only active covid infection but immunological changes in the body due to effect of inflammatory cytokines and many other factors has led to development of complications following the resolution of symptoms, of which rheumatological holds a major part manifesting in various forms. One such complication was found in one of our patients, who was a 25-year-old female with complain of pain in right buttock region due to which she had difficulty in walking but there was no such complaint anywhere else in the body or any other symptoms associated. She had a past history of fever and cough 2 months back which persisted for one week, she was tested positive for SARS-Cov-2 nasopharyngeal swab and was home isolated. On examination there was tenderness in the right sacroiliac joint without any swelling or tenderness at any other peripheral joint with rest systemic examination showing no significant finding. Laboratory reports showed raised inflammatory markers CRP- 30 mg/L, ESR- 50 mm/hr while HLA-B27 was negative. Mantoux test and IGRA was also negative. MRI pelvis showed right sacroiliitis with minimal adjacent soft tissue swelling while HRCT thorax revealed bilateral ground glass opacities with CTSS of 15/25. SARS -Cov-2 antibody titre was significantly elevated (38344 AU/mL). She was managed with NSAIDs and responded well with decrease in tenderness on 2-month follow-up.

Discussion: Post covid inflammatory arthritis which may be mono-articular or polyarticular is a diagnosis of exclusion which actively requires investigations to rule out common causes. Most common described mechanism in literature is that of molecular mimicry between synovial membrane and viral epitopes. Mechanisms such as bystander activation, an antigen-independent stimulation of T cells and/or B cells in sites of inflammation, can also contribute in this autoimmune effect.

Conclusion: Rheumatological complications after resolution of covid infection need to be identified early and managed accordingly. More studies are required to understand pathogenesis and various manifestations of post covid arthritis and its clinical consequences.


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Multisystem sarcoidosis – A therapeutic challenge, on tofacitinib

G Manikandan, John Mathew, Ashish J Mathew; Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India

Summary: 51 year old female, with 10 year history of illness with various clinical events at different time points in course of illness such as recurrent fever, cough, expectoration, paresthesias of both feet and the left hand, difficulty in getting up from squatting position and difficulty in raising arm over the head, blurring of vision and hearing loss, significant weight loss and obstructive Jaundice. On evaluation Vastus muscle biopsy, showed Non necrotising granulomas in the perimysium and endomysium. Sural nerve biopsy showed Features of focal vasculitis (Transmural infiltration with mononuclear cells, no fibrinoid necrosis), fundus examination - beading of the retinal vessels and venous sheathing, HRCT-peri-fissural, centrilobular and peri-lymphatic nodules along with borderline enlarged right hilar nodes (10 mm), TBLB- Non necrotising granulamtous lesion, Gene X pert negative. Her Ace levels were raised and ana, anca were negative. Diagnosis of multisystem sarcoidosis (eye, muscle, liver, kidney, pheripheral nervous system, lungs) was considered. As the initial presentation was granulomatous vasculitis, she was given high dose steroids with monthly pulse injection cyclophosphamide for 6 months and later switched to mycophenolate mofetil maintenance. She had radiological progression of disease in lungs and Injection Rituximab 1 gm 2 doses was administered and maintained with Shifted to tablet methotrexate and injection golimumab. On methotrexate she developed liver fibrosis. Methotrexate was stopped and continued on low dose steroids and injection golimumab. Steroid was stopped as she developed subcapsular cataract and osteopenia. She developed obstructive jaundice with cholangitis and treated with iv antibiotics. Later developed an episode of pyelonephritis with hypotension treated with iv antibiotics. She is on chronic intermittent catherisation for detrussor underactivity. As she had disease progression in liver with granulomatous inflammation and IHBRD immunosuppression was changed to Tofacitinib. She is followed up with tofactinib for 1 year and no progression in disease clinically and radiologically.

Conclusion: This case had manifestations of sarcoidosis in most major organs and progression of disease on immunosuppression with various agents and currently on tofactinib. The therapeutic challenge in treating this case of multisystem sarcoidosis is highlighted.


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Recurrent macrophage activation syndrome and concurrent AIHA as the presenting feature of systemic lupus erythematosus in an elderly female

Koshy Nithin Thomas, G P Abhishek, Amita Aggarwal; Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India

Background: Macrophage activation syndrome (MAS) is a recognised complication of systemic lupus erythematosus. Recurrent or refractory haemophagocytic lymphohistiocytosis (HLH) is seen in primary HLH, Still's disease and inflammasomopathies (NLRC4 mutations). Late onset SLE may have atypical presentations however MAS as a presenting feature is rarely described.

Discussion: A 65-year-old lady presented with history of recurrent fever since 8 months. There was a temporal relation to her covid booster vaccine dose. She was empirically started on anti-tuberculous therapy elsewhere. One month into her fever she developed jaundice and altered sensorium. She had hyperbilirubinaemia [Table 1], transaminases > 5 ULN along with coagulopathy. Coomb's positive haemolytic anaemia with thrombocytopenia was also noted. Ongoing fever with a high ferritin prompted a bone marrow which showed histiocytosis with significant haemophagocytosis. She was treated with Intravenous Immunoglobulin and dexamethasone. Her ANA (2+FS), high anti-dsDNA, low complements suggested a possible diagnosis of SLE. Her corticosteroids were discontinued after 10 weeks.
Table 1: Laboratory investigations

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She had recurrence of fever within a week of discontinuation of corticosteroids and development of high spiking fever after a month. Her laboratory parameters suggested haemolysis (no schistocytes), followed by lymphopenia, thrombocytopenia and deranged liver function. A lymphoma screen with immunohistochemistry on the bone marrow was negative. CT abdomen and thorax showed hepatosplenomegaly. She was started on IVIg for AIHA, but her fever persisted. The patient was transferred to our department. A bone marrow study was repeated in view of fever and cytopenias and once again showed histiocytosis with significant haemophagocytosis. The patient was started on dexamethasone and calcineurin inhibitor with which her fever abated and hemogram and liver function tests normalised.

Conclusion: This patient of systemic lupus erythematosus with onset after 50 years presented with recurrent AIHA and macrophage activation syndrome. The case highlights the importance of long-term continuation of therapy for MAS.


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Soft tissues converting into bones

Vikas Kashyap, Arifa, Isha Saini, Amitabh Singh, Rani Gera; VMMC and Safdarjung Hospital, New Delhi, India

Fibrodysplasia ossificans progressiva (FOP) is a rare disorder in which skeletal muscles and connective tissues are gradually replaced by bones, occurring in about 1 in 2,000,000 newborns and about 834 people worldwide are known to have FOP [Figure 1] and [Figure 2]. Owning to the rarity of the disease there is often delay in diagnosis or misdiagnosis which significantly affects the quality and duration of life of this patient. We had a case which presented to us with complaints of pain and swelling over bilateral upper chest, back, right lateral aspect of neck and right elbow for last 20 days which history of similar episodes in the past. Owing to the rarity of the disease the initial differentials are usually cellulitis or myopathy or polymyositis workup of which is extensive and involves biopsy. This leads to delay in diagnosis and more harm to the patient with invasive procedures. We came to the final diagnosis of FOP after extensive literature review and would like to highlight the salient features of the disease and how to manage to aid in early suspicion and diagnosis which will eventually help in prognosticating and improving the quality of life of the patient.
Figure 1: Course of disease. [Hb - Haemoglobin (gm/dl), TLC - Total leucocyte count (X103 cells/cc), Platelets (X103 cells/cc), plasma fibrinogen (mg/dl), serum ferritin (μg/l)]

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Figure 1: It shows swelling on the back on right side, right side of neck and flexed posture of right hand due to ossification and inability to extend it

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Figure 2: (a) Plain radiograph showing hallux valgus and only one phalanx of the great toe resulting in short great toe bilaterally. (b and c) Plain radiograph showing heterotopic ossification in the soft tissues

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  CAS314 Top


Use of obinutuzumab in a patient with refractory lupus nephritis

Harsh Jain, S Kartik, Abhishek Kumar, Vaibhavi Velangi, Gargi Sasmal; Department of Rheumatology, Army Hospital Referral and Research, New Delhi, India

Background: Lupus nephritis (LN) is a common severe complication of systemic lupus erythematosus (SLE) and a major determinant of morbidity and mortality. Refractory LN occurs when there is absence of response to standard first line therapies.

Discussion: We present a case of 28-year-old male who had presented to our institute with inflammatory arthritis and petechial rash in bilateral lower limbs of 2 months duration. On evaluation he had significant proteinuria, positive ANA by IFA (AC-1) with positive dsDNA (177.3 IU/ML) and low complements. Skin biopsy was suggestive of small vessel vasculitis and renal biopsy revealed Class II + V Lupus nephritis. He was managed with steroids and MMF induction (3 g/day). On review in 3 months, he had worsening of proteinuria, and he was switched to cyclophosphamide by NIH protocol. After 4 doses of cyclophosphamide patient had persistent proteinuria and arthritis with new onset lupus pneumonitis. He was subsequently managed with Rituximab (1 g x 2 doses) and subsequently also exhibited multitarget therapy with MMF, Tacrolimus and steroids. In view persistent disease activity (SLEDAI-16) with cytopenias, shrinking lung syndrome, high dsDNA levels and low complements and persistent proteinuria he was given novel therapy obinutuzumab (1 g 2 weeks apart) in Jan – Feb 2022 to which his proteinuria improved (7.536 to 2.092 g/24 hrs) with increase in complement levels and negative dsDNA over 3 months duration. Patient is on regular follow up and planned for repeat dosage at 6 months interval.

Conclusion: The above case report is of a young male with Lupus who was refractory to therapy with conventional agents including Cyclophosphamide, MMF and rituximab. Obinitizumab is a humanised type II anti-CD20 monoclonal antibody that induces potent B-cell depletion and has been shown to be promising agent for management of refractory lupus nephritis.


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Case of tuberculous pyomyositis in a patient with idiopathic inflammatory myositis

Harsh Jain, S Kartik, Abhishek Kumar, Vaibhavi Velangi, Gargi Sasmal; Department of Rheumatology, Army Hospital Research and Referral, New Delhi, India

Background: Skeletal muscles are a rare site of tuberculosis constituting less than 1% of reported cases of skeletal tuberculosis. Tuberculous abscess in the connective tissue of limbs is extremely rare and their atypical presentations in unusual sites lead to delay in diagnosis.

Discussion: A 48-year-old male was referred to our institute with a history of fever, weight loss and generalized weakness. 08 months prior to the admission he had inflammatory polyarthritis which was managed with DMARDs for a few weeks. 02 months prior, he had developed pain and swelling in the right calf along with fever. He was managed with fasciotomy and drainage of pus along with antibiotics. On evaluation patient was detected to have proximal muscle weakness, elevated muscle enzymes MRI evidence of diffuse bilateral lower limbs myositis and anti-Ro 60&52 antibody positivity. He was managed with IVIG for inflammatory myositis. Subsequently, he developed myocarditis and complete heart block which was managed with pacemaker implantation and methylprednisolone pulse. Four weeks later, his right calf pain and swelling worsened with the dehiscence of sutures. Aspirate from the site was positive for acid-fast bacilli and subsequent culture confirmed Mycobacterium tuberculosis. He was treated with four-drug ATT. His course of illness was complicated by IRIS and formation of multiple discharging sinuses. The patient had received 4 months of ATT at the time of reporting, and he had clinical improvement in the swelling and no recurrence of proximal muscle weakness and myocarditis.

Conclusion: Tuberculous pyomyositis is a rare entity and can complicate the management of life-threatening complications of rheumatological diseases. A high index of suspicion and timely diagnosis is of paramount importance.


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Fever of unknown origin (FUO) associated with reactive lymphadenopathy due to polyarteritis nodosa (PAN) – A rare presentation

Sukdev Manna, Ashish Baweja, Vijay Karthik, Avneet Kumar Gupta, Venkatesh S Pai1; Departments of Clinical Immunology and Rheumatology and 1Internal Medicine, Division of Clinical Immunology and Rheumatology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

Case: An 18-years-old male presented to us with 8 months history of recurrent episodes of inflammatory arthritis of right ankle and right hip joint, myalgia, fatigue, weight loss of 5 kg and. intermittent fever episodes following an episode of high-grade fever with chills, and rigor with transient renal dysfunction 1 month ago. He had significant cervical and axillary lymphadenopathy. He had documented fever spikes, leukocytosis, thrombocytosis, and elevated inflammatory markers [Table 1]. His CECT thorax and abdomen showed pseudoaneurysm with thrombosis of the superior mesenteric artery with renal infarct. DSA showed classic findings suggestive of polyarteritis nodosa [Figure 1]. He was started on oral prednisolone and cyclophosphamide (CYC) pulse therapy per EUROVAS protocol. However, he missed the second dose of inj. CYC and presented with acute onset abdominal pain because of new onset renal infarcts. So, he was re-induced with MPS pulse and CYC was continued as per EUROVAS protocol following which all his symptoms have improved.
Figure 1: Multiple aneurysms in renal artery, superior mesenteric artery with multiple right renal infarcts

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Table 1: Laboratory investigations

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Discussion: Polyarteritis nodosa, a rare form of systemic angiitis, manifests as prominent constitutional symptoms, and dysfunction of organs supplied by medium-sized muscular arteries like kidneys, gastrointestinal tracts, PNS, etc. We had this classic case of FUO where the presence of constitutional symptoms, oligoarthritis, leukocytosis, thrombocytosis, elevated inflammatory markers, and most importantly transient renal dysfunction i.e rise in serum creatinine and mild proteinuria made us think beyond the usual diagnosis of FUO like tuberculosis, infective endocarditis, malignancy, etc. which were, of course, ruled out with appropriate investigations. Although has rarely been described in the literature, significant lymph node enlargement can be expected in systemic inflammatory disorders like PAN. Our patient had lymphadenopathy because of reactive hyperplasia as shown by histopathological examination of an excised lymph node. The CECT abdomen followed by DSA helped us not only to clinch the diagnosis but also to rule out other common causes of lymphadenopathy.


  CAS318 Top


Successful outcome of infliximab therapy in a patient with Vogt-Koyanagi-Harada Syndrome: A case report

Debaditya Roy, Rashmi Rungta, Shonali Dey, Shashwat Bhattacharyya, Pradyot Sinhamahapatra, Biswadip Ghosh, Partha Ghorai; Department of Clinical Immunology and Rheumatology, Institute of Postgraduate Medical Education and Research (IPGMER), Kolkata, West Bengal, India

Background: Vogt-Koyanagi-Harada (VKH) disease is defined as a bilateral granulomatous panuveitis with or without extraocular manifestations with the majority of the cases found around the second and fifth decades of life. The clinical features of VKH disease will vary depending on stage of the disease.

Discussion: 45-year-old woman presented with headache and dizziness for 1 month stage followed by redness of both eyes, with pain and blurring of vision necessitating visit to an Ophthalmologist. After initial improvement with steroid eye drops, she presented with acute onset bilateral hearing loss without any pain, discharge or tinnitus. No other systemic features were present. With a possibility of VKH syndrome among other differentials, Ophthalmological evaluation was sought. It revealed bilateral anterior uveitis and posterior synechiae with grade II vitreous haze & exudative retinal detachment in both eyes. OCT Macula revealed bilateral sub foveal Retinal detachment with fundus photography showing bilateral vitreous haze, hyperemic disc margin and exudative retinal detachment subfoveally [Figure 1] and [Figure 2]. Audiometry showed moderate sensorineural hearing loss. Hence VKH syndrome was diagnosed while other differentials were ruled out. Due to severe vision impairment (6/36 in both eyes) and auditory complications, she received pulse methylprednisolone 500 mg for 3 days and planned to be initiated on Inj. Infliximab which she received for a total of 3 doses @3 mg/kg spaced 2 months apart. This resulted in a rapid improvement in her vision and hearing with last recorded vision being 6/18 and auditory improvement to mild SNHL. She is currently on 10 mg Prednisolone and under regular follow-up.
Figure 1: Left eye shows hyperemic disc margins (a) with dilated central retinal veins arising out of optic disc; Macula looks thickened with distortion of overlying blood vessels (b) which corresponds to exudative retinal detachment as seen on OCT macula scan below the fovea (c) and follow up OCT macula after 4 months depicting absorption of the exudation and resorption of the exudative detachment under the fovea (d)

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Figure 2: Right eye shows hyperemic disc margins (a) with dilated central retinal veins arising out of optic disc; Macula looks thickened with distortion of overlying blood vessels (b) which corresponds to exudative retinal detachment as seen on OCT macula scan below the fovea (c) and follow up OCT macula after 4 months depicting absorption of the exudation and resorption of the exudative detachment under the fovea (d)

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Conclusion: Aggressive therapy, early detection, slow tapering of oral steroids and timely use of immunosuppressants are the key to maintaining good visual acuity in VKH syndrome. In our patient, early institution of Anti-TNF therapy resulted in significant visual and auditory improvement.


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Jab we met: Takayasu arteritis and myasthenia gravis

Nahar Naisar, Patil Nahush, Nahar Prachi, Bothara Rishi; Arham Rheumatology Center, Nashik, Maharashtra, India

Background: Takayasu's arteritis (TA) & Myasthenia gravis (MG) are chronic inflammatory diseases with unknown etiologies, and their coexistence has been reported occasionally in the literature. Here we present rare overlap case of myasthenia gravis in known case of Takayasu arteritis.

Case Report: We report a case of a 30-year-old lady with underlying Takayasu arteritis for ten years duration, presented with dysphagia with dysphonia of 1-month duration and also had history of worsening generalized muscle weakness of one-month duration. There was no bulbar involvement & there was no active history of vasculitic features. She was on weekly methotrexate 20 mg/week with prednisolone 5 mg od. Her routine hematology & biochemistry including CPK was normal. Her inflammatory markers, viral markers & thyroid function were normal. The MRI brain was normal. Fatigability test was positive. Her ACh receptor antibody was negative & Anti Musk antibody was positive. Repetitive nerve stimulation study was not performed. Her symptoms improved after pyridostigmine & optimization of steroid.

Conclusion: The presence of more than one autoimmune disease in a patient poses a diagnostic & therapeutic challenge to the treating physician. Prudent clinical judgment is really important. Rheumatologist must be aware and prepared to evaluate & diagnose this overlap condition.


  CAS320 Top


Coexistence of hereditary haemorrhagic telangiectasia in a patient with primary Sjogren's syndrome and beta thalassemia minor

Meera Shah, Sapan C Pandya, Puja Srivastava; Department of Rheumatology, SVP Hospital, Ahmedabad, Gujarat, India

Introduction: HHT in a patient with primary Sjogren's has been described once in literature.

However, the immune mechanism behind the coexistence of such genetic disease with autoimmune rheumatic diseases has not been postulated previously.

Case Report: A 52 years old lady, known case of hypothyroidism and thalassemia minor, was diagnosed to have primary Sjogren's Syndrome (Sicca symptoms, B/L parotitis, Anti-Ro Ab positive). She also had history of multiple episodes of epistaxis and telangiectasias in the past. In July 2019 she had dyspnea and central cyanosis. CT pulmonary Angio was suggestive of multiple bilateral pulmonary AV Malformations of variable sizes (largest being 29*24 mm) as shown in [Figure 1]. Over a period of 3 years, she developed new pulmonary AV malformations and splenic artery aneurysm. Embolization have been performed both the times.
Figure 1: Approx. 29*24 mm sized focal aneurysmal dilatation-pulmonary AVM noted in left lower lobe posterolateral aspect. Arterial supply from lower lobe branch of left pulmonary artery and venous drainage from left inferior pulmonary vein

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She presented to us in May 2022 with complains of exertional fatigue and dyspnea with dryness of mouth and occasional telangiectasia. On physical examination, she had tongue telangiectasias, on hard palate and on palm of left hand as shown in [Figure 2] and [Figure 3].
Figure 2: Tongue and palatal telangiectasia

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Figure 3: Few telangiectatic spots on the palmer surface of left hand

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On further tracing the history [Pedigree [Chart 1]], following members in the extended family exhibit similar symptoms of epistaxis.



Discussion: The occurrence of vascular malformations in HHT patients can be attributed to decreased transforming growth factor-b activation and increased production of vascular endothelial growth factor, leading to separation of endothelial and peripheral wall cells. Numerous studies have focused on the expression of TGF-β in salivary glands, as organs targeted in pSS. Hence, we postulated that there could be an association between the immune-pathogenesis of both HHT and Primary Sjogren's, which could further be confirmed on exonal sequencing.


  CAS321 Top


Severe hypercalcemia and chronic gastrointestinal manifestations: A rare presentation of multisystemic sarcoidosis

Hargurdas Singh, Gurinder Mohan, Ranjeet Kaur, Sankalp Harish Jagga, Kapeesh Khanna, Karandeep Kaur; Sri Guru Ram Das Institute of Medical Sciences and Research, Sri Amritsar, Punjab, India

Case Report: A known diabetic, hypertensive, hypothyroid 60 years old female presented with pain abdomen, loss of appetite, constipation, weight loss, and Grade 1-2 breathlessness from last 3 years which got aggravated in last 2 months. O/E: Bilateral fine crackles and hepatosplenomegaly present. Investigations: [Table 1]. The abdominal ultrasonography revealed hepatosplenomegaly with multiple hypoechoic areas in spleen. CECT Abdomen [Figure 1]a confirmed ill-defined nodules in spleen and liver with retroperitoneal lymphadenopathy s/o granulomatous disease. CECT chest [Figure 1]b also suggested multiple nodules in all lobes of bilateral lungs with tree-in-bud appearance and mediastinal lymphadenopathy. Bronchoscopy showed no endobronchial lesions and EBUS-guided transbronchial needle aspiration (EBUS-TBNA) from subcarinal and paratracheal lymph nodes showed non-caseating epithelioid cell granuloma which was negative for acid-fast bacilli and tuberculosis PCR. Rest CBC, RFT, SGOT, SGPT, serum albumin were normal, and viral markers, sputum for CBNAAT, urine and blood culture were negative. She responded well to fluid resuscitation, salmon calcitonin, and oral steroids along with supportive care.
Figure 1: CECT Chest and Abdomen

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Table 1: Lab investigations

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Case Discussion: Sarcoidosis is multisystem disease characterized by non-caseating granulomas with predominant pulmonary involvement, heterogeneous presentations, and variable incidence of 1-40/1,00,000. Madan, et al. 2022 found only 1.5-3% hepatosplenic involvement and 3.8% hypercalcemia on ambispective analysis of 327 sarcoidosis pts at AIIMS, New Delhi. Serum ACE levels are raised in around 50% of cases as in our pt. The index patients had primarily gastrointestinal symptoms for long time due to sarcoidosis as well as hypothyroidism which remained undiagnosed and later gets aggravated and lead to severe hypercalcemia. Sarcoidosis is a diagnostic challenge and learning about such presentation is crucial to avoid missed or delayed diagnosis.

Conclusions: Sarcoidosis is not as rare as earlier thought in tuberculosis endemic countries like India but still not much reported and diagnosed in time.

Bronchoscopy and EBUS-TBNA play an important diagnostic role. Extrapulmonary and gastrointestinal manifestations can be the first presenting features.


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Cystic neutrophilic granulomatous mastitis: A review of five cases

S R Pooja, Shiva Prasad, Venugopal Anandaswamy, Sushma Krishnamurthy, M G Lokesh; Apollo Hospital, Mysuru, Karnataka, India

Background: Cystic neutrophilic granulomatous mastitis is a rare form of granulomatous mastitis with a highly distinct histopathological pattern characterized by suppurative lipogranulomas containing central lipid vacuoles surrounded by neutrophils and epithelioid histiocytes. The surrounding mixed inflammatory infiltrate contains Langhans- type giant cells lymphocytes and neutrophils. CNGM is often seen in association with Corynebacterium species. It commonly affects young parous women who present with a painful, palpable breast mass. Prolonged antibiotic therapy is required for complete resolution. Some may even require steroids and surgical intervention ranging from incision and drainage, excision to mastectomy and combined therapies. Other conditions that may mimic CNGM are TB, sarcoidosis, fat necrosis, auto-immune diseases, foreign body granuloma, sub-areolar breast abscess and idiopathic granulomatous mastitis.
Table 1: Patient Characteristics

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Methods: A retrospective study of clinico-pathological characteristics of patients presenting with CNGM at Apollo BGS Hospital, Mysuru was done.

Results: The study includes a total of five patients with cystic neutrophilic granulomatous mastitis aging between 25 & 35 years with mean age of 31.2 years at presentation. All patients presented with breast pain and swelling/lump/nodule. All 5 cases showed characteristic histological features of CNGM. One of the cases showed evidence of “Chinese pattern of bacilli” suggestive of Corynebacterium species. All patients showed improvement with prolonged antibiotic therapy. Two of these required surgical intervention in the form of excision and incision & drainage.

Conclusions: CNGM, an unusual form of mastitis, must be suspected in young parous women presenting with tender swelling of breast. The distinct histological and microbiological findings set CNGM apart from other conditions with similar clinical presentation.


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Systemic onset juvenile idiopathic arthritis involving enthesis

S Bhavana, G Narsimulu, Vijaya Prasanna Parimi, R N Tejaswini; Department of Rheumatology, ESIC Medical College, Hyderabad, Telangana, India

Systemic onset juvenile idiopathic arthritis (SOJIA), classified as a form of Juvenile arthritis, constitutes around 10-20% of all cases of JIA, which is the most common form of arthritis in children. It has no sex predilection and affects children as young as one year of age or younger. Enthesitis occurs in a form of JIA known as Enthesitis related arthritis, which has a male predilection and association with HLA-B27 allele. It is not characterized by systemic features. We describe a rare occurrence of entheseal inflammation in SOJIA.

Introduction: SOJIA belongs to a group of inflammatory arthritis affecting children below 16 yrs of age. Distinctive features of SOJIA include high spiking fevers, rashes, leukocytosis, elevated acute phase reactants, often organomegaly, lymphadenopathy, and serositis. It bears close resemblance to autoinflammatory syndromes rather than autoimmune disorders. Fever is the most predominant symptom at onset seen in 98% of SOJIA patients. Arthritis is seen in 88%, skin rash in 81% and lymphadenopathy in 31%. Arthralgias are common in early disease. Arthritis involves joints like hips and may cause severe joint damage warranting surgery. Involvement of temporomandibular joint leading to micrognathia, cervical spine leading to spine fusion are complications that may cause severe morbidity. Macrophage activation syndrome is a severe, fatal complication in SOJIA characterized by persistent fevers, coagulopathy, decreasing WBC and platelet counts, hepatic dysfunction and hyperferritinemia, and hemophagocytosis. Depending on severity of disease at presentation, and presence of macrophage activation, therapy is chosen. Mild-to-moderate disease without any MAS can be treated with NSAID therapy. Moderate-to-severe activity at presentation warrants use of systemic glucocorticoids, biologic agents like IL-1 or IL-6 inhibitors. Conventional DMARDs like Methotrexate can also be initiated. Persistent chronic disease may need combination therapy of biologic agent with glucocorticoid or methotrexate or nonbiologic DMARDs like cyclosporine, tacrolimus.

Case Report: A 11-year-old female child, second in birth order, born of spontaneous conception in a non-consanguineous marriage, had fever and joint swellings of 2 months duration. She also had bilateral conjunctivitis at onset of disease, causing treating clinician to suspect Kawasaki disease and evaluate for any coronary involvement- which was absent. Inflammatory markers were elevated. Serology for juvenile forms of Inflammatory arthritis was negative- IgMRF and Anti CCP and ANA-IF. Blood smear examination showed leucocytosis and thrombocytosis with anemia. Bone marrow analysis ruled out any infiltrative or infective pathology, and malignancy. Hence suspecting systemic inflammatory arthritis, NSAIDs were added along with low dose steroids in view of moderate disease activity. Child continued to have high spiking fevers, hence PET CT scan done, to look for any internal occult malignancy. PET CT scan instead showed significant uptake in joints and entheses. HLA B27 was positive. TNFi Etanercept was initiated, however child continued to spike fevers and joint disease activity continued. Now, IL-6 inhibitor Tocilizumab was initiated so as to control the high systemic and joint activity, after which her condition improved clinically. Systemic features subsided and arthritis started responding.

Discussion: ERA associated with fever has severe joint disease often refractory to first line therapy with NSAIDs requiring glucocorticoids and biologic therapy. Systemic JIA is distinct from all other categories of JIA due to fever, rash, and visceral involvement and is considered by some to be an autoinflammatory disorder. Biologic DMARDS (IL-1 and IL-6 inhibitors) are conditionally recommended as initial monotherapy for systemic JIA without MAS. Glucocorticoids are conditionally recommended as part of initial treatment of systemic JIA with MAS. In case of incomplete response and/or residual arthritis, biologic DMARDs or csDMARDs are recommended. High prevalence of HLA-B27 was described in enthesitis related arthritis category of JIA and in a smaller frequency in psoriatic arthritis, unclassified form of JIA. It has also been described in oligoarticular and polyarticular forms especially in girls. Occurrence of HLA-B27 in Systemic form of JIA is not described. Hence this case is unique in its prominent systemic features and occurrence of HLA-B27 positivity and enthesitis.




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Clinical profile of Behcet's cohort from a tertiary care centre in South India

Arun Sugunan, S Rajesh1, M Bhuvanesh1, Abitha Aliyar1; Departments of Internal Medicine and 1Rheumatology and Clinical immunology, KIMS HEALTH Hospital, Thiruvananthapuram, Kerala, India

Background: There is a paucity of data on the clinical characteristics of Behcet's disease from our subcontinent. Our endeavour was to look into retrospectively the clinical profile of our patients diagnosed as Behcet's disease in a tertiary care centre in Kerala.

Discussion: We did a retrospective study of patients diagnosed as having Behcet's disease by International criteria of Behcet's disease (2006). Electronic medical records were scrutinized to collect both patient and clinical feature characteristics. M: F ratio was 4.5:1 with a mean age of 41.5 yrs. The most common presenting as well as clinical feature was oral ulcerations noted in 82% patients. This was followed by genital ulcerations in 68 % and arthritis in 59% of patients. Cutaneous involvement was noted in 36% and ocular involvement was seen only in 27% patients. Gastrointestinal involvement was the most common major organ involvement in 18% of patients whereas CNS and pulmonary involvement was in less than 5% of cases.

Conclusion: In our cohort of patients, mucocutaneous was the predominant phenotype followed by musculoskeletal and ocular involvement similar to results by Doaa H.S. Attia et al. and Ayad Hamdan et al. Major organ involvement was rare except for gastrointestinal involvement which was similar to other published cohorts.


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Calcinosis universalis

B K Kundu, P Dey1, Sarthak Saxena; Department of Medicine, ABVIMS and Dr RML Hospital, 1Indraprastha Diagnostics, New Delhi, India

Background: Calcification of skin and soft tissue, known as calcinosis cutis, is a well-known complication of various autoimmune disorders like scleroderma and dermatomyositis due to calcium hydroxyapatite crystal deposition in damaged tissue. It may be localised or generalised, called calcinosis circumscripta or universalis respectively. We present such a case complicating a scleroderma-myositis overlap.

Discussion: A 42-year-old lady with sclero-polymosistis overlap on irregular treatment and follow up, presented with progressive painful swelling over bilateral thighs associated with local rise of temperature and night pains. Plain radiography [Figure 1] revealed long bands of subcutaneous calcification underlying the swelling seen superficially as well as extending into the deep fascial planes. These findings were further confirmed with computed tomography (CT) [Figure 2] and magnetic resonance imaging (MRI). She was started on Injection Rituximab in view of active myositis and progressive calcification. She has been doing well since.
Figure 1: Plain X-ray of right thigh

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Figure 2: Computed tomography image of both lower limb

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Conclusion: Calcinosis universalis has been a poorly understood and an imperfectly treated complication of autoimmune disorders. Its rarity in diagnosis and unknown pathogenesis contributes to its increased morbidity in patients. We suggest a watchful eye for such a complication, especially in patients of sclero-polymyositis overlap. It underlines the importance of regular treatment and follow up in autoimmune cases. Further research for novel management strategies to prevent as well as treat calcinosis universalis is needed.


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Hemophagocytic lymphohistiocytosis (HLH) in Kikuchi Fugimoto disease (KFD): A case report

J Deepthy, K P Rohith, M Gautam, Ramakant, S Divya; Indian Naval Hospital Ship Asvini, Mumbai, Maharashtra, India

Background: In this case report, we will discuss a case of kikuchi fujimoto disease (KFD) with macrophage activation syndrome (MAS) hemophagocytic lymphohistiocytosis (HLH) managed at a tertiary care centre in Mumbai. An extensive literature review of case reports of MAS in KFD, across the globe has been done in our study. Our patient was a 36 yr old man with no known comorbidity who presented with complaints of fever, rash over trunk and extremities of 03 days duration. On examination he had right inguinal and bilateral axillary lymphadenopathy. Biopsy specimen from inguinal lymph node showed necrotizing lymphadenitis [Figure 1]. Bone marrow aspiration showed hemophagocytic histiocytosis [Figure 2]. The clinical symptoms, the results of the laboratory test and bone marrow aspiration met the diagnostic criteria for HLH. The patient was diagnosed with macrophage activation syndrome-HLH, a secondary HLH associated with KFD. He was treated with pulse methylprednisolone, intravenous immunoglobulin and hydroxychloroquine. He recovered well with therapy and was asymptomatic by 1 week after starting treatment. At 12 months of follow up he has no recurrence.
Figure 1

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Figure 2

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Discussion: The manifestation of HLH symptoms in patients with rheumatic conditions is called MAS. From the revised classification in 2016, the term MAS-HLH has been suggested. Among patients with secondary HLH, those with associated rheumatic conditions are diagnosed with MAS-HLH. As KFD is associated with rheumatic disease, HLH associated with KFD is regarded as MAS-HLH. Macrophage activation syndrome secondary to kikuchi fujimoto is rare entity. Secondary MAS has a high risk of mortality in spite of treatment. Our case was successfully managed with timely diagnosis and treatment.

Conclusion: Monitoring for MAS in patients with KFD could be clinically important, as patients without MAS could be treated with supportive care, while those with MAS require steroids or additional second-line treatments such as cyclosporine, anti-cytokine therapy, or chemotherapy.


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Myelodysplatic syndrome and giant cell arteritis – An association, probable VEXAS syndrome

G Manikandan, John Mathew; Department of Clinical Immunology and Rheumatology, Christian Medical College, Vellore, Tamil Nadu, India

Background: Giant cell arteritis (GCA) is a chronic granulomatous medium- to- large vessel vasculitis. It is a rare entity in the Indian subcontinent. Here we present the first case in the literature from Indian subcontinent for a myelodysplastic syndrome in a patient recently diagnosed with GCA with probable VEXAS phenotype.

Case Report: A 77-year-old gentleman presented with throbbing headache, ear pain, jaw pain with prominent tender temporal artery. Temporal artery biopsy showed moderate transmural infiltrates of lymphocytes and histiocytes, Medial based ill formed granulomatous inflammation, intimal hyperplasia and disruption of internal elastic lamina, suggestive of GCA. Ophthalmological evaluation showed no evidence of anterior ischemic optic neuropathy. He was initiated on oral prednisolone 40 mg once daily for 2 weeks. However, he had inadequate response to this and developed blurring of vision and was pulsed with Injection Methylprednisolone for 2 days followed by iv Tocilizumab once monthly with steroid tapering. Following the third dose of Tocilizumab, he was found to have leukopenia requiring human granulocyte colony stimulating factor and tocilizumab was changed to MMF in view of possible drug induced cytopenia, but counts didn't improve. Bone marrow evaluation was done which was suggestive of myelodysplastic syndrome and vacuolar changes. ubiquitin gene analysis was negative. Fluoresence in situ Hybridization showed 5q31 deletion in 53% cells and 7q31 deletion in 55% cells. Literature review showed characteristics of GCA MDS-MDS/MPN seem different from idiopathic GCA, with a distinct phenotype and poorer outcome with higher risk of steroid dependence and relapse. He is on treatment with Azacytidine for the MDS and low dose steroid for the GCA.

Conclusion: This case highlights the need for recognition of associations of Giant cell arteritis like MDS with bone marrow biopsy showing vacuolar changes – Probable VEXAS phenotype.


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Fever in polycyclic systemic JIA: TB or not TB?

Deepti Joy, P S Arul Raja Murugan, R Ramesh, S Mythili, R Nagendran; Department of Clinical Immunology and Rheumatology, Institute of Rheumatology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, Tamil Nadu, India

Background: Cause of fever in long standing polycyclic systemic JIA can be very challenging to diagnose.

Case Details: A 34-year-old male, diagnosed case of systemic JIA since age three presented to us with fever of one-month duration associated with chills and rigors. He had history of fever off and on for last three years, ever since he stopped methotrexate in order to beget a child. Suspecting a flare of disease, he was restarted on methotrexate 2 months prior to current presentation. Past medical history - 1) sputum positive pulmonary TB at the age 17 years 2) given tocilizumab 6 doses at age 27, in view of high disease activity. Systemic examination was unremarkable except for the existing joint deformities. Blood investigations included anemia (10.8), raised total count (22,000), CRP of 48 mg/dl and procalcitonin of 5.7 ng/ml. Fever profile and all cultures were negative. Se ferritin was 466 mg/dl. Chest CT, Mantoux were negative. In view of PUO, whole body PET CT [Figure 1] and [Figure 2] was done which showed lytic lesion in greater wing of sphenoid and left L5 lamina, left sacral ala, involvement of left sacroiliac joint with associated soft tissue component and areas of necrosis. Multiple metabolically active nodes were noted in the cervical, internal mammary, retroperitoneal nodes and periportal areas. Picture favouring infectious aetiology. Biopsy from cervical lymph node was pauci-cellular and biopsy of periportal lymph node showed extensive areas of necrosis favouring tuberculosis. Patient was started on ATT, methotrexate was withheld and prednisolone of 10 mg was continued. Patient become afebrile after 4 weeks. Six months of ATT, patient is symptom free.
Figure 1: Lytic lesion at the sphenoid bone on PET CT

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Figure 2: Lesion at the left SI joint with soft tissue involvement and necrosis

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Conclusion: Final diagnosis of disseminated Tuberculosis in a patient systemic JIA.

Discussion: Fever in long standing inflammatory rheumatological conditions remains a challenge. To differentiate between disease flares, infections, immunoproliferative disease or malignancy still remains an enigma.


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Purtscher like retinopathy as the presenting sign of lupus

Bodhibrata Banerjee, Raja Bhattacharya1, Kaushik Basu1, Bhuranjana Baghel1; Departments of General Medicine and 1Rheumatology, Medical College Hospital, Kolkata, West Bengal, India

Background: A 26-year-old lady presented with painless progressive loss of vision in left eye for 2 months. On ophthalmological examination, left eye showed hand movement close to face, PL +, PR accurate, RAPD present. Dilated fundoscopy revealed flame shaped hemorrhage, retinal patches, exudates and peripheral sheathing of vessels consistent with Purtscher like retinopathy [Figure 1]. Examination of right eye is essentially normal.
Figure 1: Fundoscopy showing Purtscher like retinopathy with cotton wool spots and hemorrhages in a patient with lupus

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On repeated enquiry, she admits on and off arthralgia along with painless palatal ulcer. Examination of musculoskeletal system revealed tenderness of MCP and PIP joints.

Workup for thrombophilia and malignancy screen were negative. ANA (Hep2) was 3+ nuclear homogenous pattern, Anti dsDNA 2+, RNP 3+, Sm 2+, SSA 3+. Serum C3, C4 normal, ANCA negative. Based on clinical features and laboratory parameters she was diagnosed as a case of SLE with Purtscher like retinopathy. She was started on steroid and IV Cyclophosphamide. However, she did not show any improvement in her visual acuity even after 6 months of therapy.

Discussion: Purtscher retinopathy is an occlusive vasculopathy characterized by multiple white retinal patches and hemorrhages causing severe vision loss. It is seen in traumatic injury and a diverse non-traumatic disease such as acute pancreatitis, fat embolism, preeclampsia and HELLP syndrome and vasculitic diseases such as lupus. From our case, we learnt that Purtscher like retinopathy can be the presenting feature of Lupus and if not vigorously taken care of, it can lead to progressive loss of vision not amenable to therapy.

Conclusion: Eye is one of the key targets of the disease process in Lupus. Retinal involvement in Lupus progresses relentlessly and by the time the patient comes to us, the golden hour for therapy has already elapsed. Hence aggressive institution of immunosuppressive therapy is needed at the very detection of retinal involvement and this should be done as early as possible.


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Dermatomyositis sine dermatitis: A case report

Raghuraj Chawla; ABVIMS and Dr. RML Hospital, New Delhi, India

Background: 37 years old patient presented with progressive weakness of all 4 limbs for 6 months and difficulty swallowing for 1 month. Patient developed weakness of all 4 limbs 6 months back (insidious in onset; gradually progressive, started in lower limbs and involved proximal muscles. There wasn't history suggestive of cortical/ sensory/ cranial nerve/ cerebellar/ myelopathy/ neuromuscular junction involvement/ skin rash. Patient had difficulty swallowing since last 1 month (solids & liquids). Motor examination revealed power of 2/5 in proximal muscles and 4+/5 in distal muscles of all limbs. Rest examination was normal. Provisional diagnosis of proximal myopathy with dysphagia was kept. Investigations revealed CPK: 342, CK-MB: 15, negative myositis profile, EMG showed short duration MVAP. USG muscles: s/o bulky, heteroechoic muscle, s/o myositis. Muscle biopsy suggestive of perifascicular atrophy, fibre size variability with peri-myseal inflammation [Figure 1]. IHC showed positivity for CD3, CD4, CD8 and CD20, consistent with Dermatomyositis. Patient was started on steroids and azathioprine was added. Muscle power improved to 5/5.
Figure 1: Histopathological findings of muscle biopsy in our case

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Discussion: Dermatomyositis is an inflammatory myopathy that manifests with symmetric muscle weakness; skin manifestations; lung involvement; arthritis and GIT involvement. Atypical DM includes Amyopathic DM, DM sine dermatitis, and DM associated with malignancy. Dermatomyositis sine dermatitis is an unusual subtype of dermatomyositis, seen in only 8% cases. It is characterised by muscle weakness, but with no cutaneous features. Autoantibodies are often negative, except anti-NXP2 antibody. Very few cases of this subset have been reported. These cases are usually diagnosed by histopathological examination.

Conclusion: Dermatomyositis sine dermatitis, though an uncommon manifestation of dermatomyositis, should be looked for patients presenting with proximal myopathy without any cutaneous features. It is diagnosed mainly by histopathological examination. Here, we present such a case who did not have any cutaneous manifestations. Biopsy was suggestive of dermatomyositis, treatment was started for the same, and patient improved.


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Extensive arterial calcification in young patient – Mimicking vasculitis

Harman Singh, Kaushik Bhojani, Neel Patel; Department of Rheumatology, Fortis Hospitals, Mumbai, Maharashtra, India

Case Report: 17-year-old young male presented with headache, convulsions. On examination was found to have weak peripheral pulses, carotid and renal bruit, Malignant hypertension. Echocardiography showed LV hypokinesia with EF 40%. Renal Doppler showed bilateral renal artery stenosis. Brain imaging suggestive of PRES, acute ischemic infarcts with chronic lacunar infarcts. Suspecting him to be a case of vasculitis, we did PET imaging which showed extensive arterial calcification involving the medium and small sized arteries sparing the aorta. Workup for vasculitis was negative. Considering the age of the patient and extensiveness of the arterial calcification [Figure 1] and [Figure 2], genetic sequencing was advised for hereditary disorder of arterial calcification. Genome sequencing report is still awaited. Patient is currently doing well on antihypertensives and anti-epileptics.
Figure 1: X-ray knee joint showing popliteal artery calcification

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Figure 2: X-ray elbow showing brachial artery calcification

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Discussion: Although diagnosing vasculitis is important, differentiating it from its mimics also plays an essential role. As an incorrect diagnosis of vasculitis can result in harmful consequences, it is imperative that the evaluation of suspected vasculitis includes consideration of mimics. Arterial calcification is commonly seen in adult individuals with atherosclerosis, diabetes, renal failure, etc. However, when present in young individuals, it is likely to be associated with an underlying hereditary disorder of arterial calcification. These disorders can be classified according to the function of the respective disease gene into (1) disorders caused by an altered purine and phosphate/pyrophosphate metabolism, (2) Interferonopathies, and (3) Gaucher disease.

Conclusion: The finding of arterial calcification in early life should alert the clinician and prompt further genetic work-up to define the underlying genetic defect, to establish the correct diagnosis, and to enable appropriate therapy.


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An adventurous tale of 2 young hearts!

Sumana Bingumalla, Ramyasri Kodali, K V Anil Kumar, B S Nagashri, Mohammad Salih Salim, Ramya Janardhana, Vineeta Shobha; Department of Clinical Immunology and Rheumatology, St. John's Medical College Hospital, Bengaluru, Karnataka, India

Background: Coronary vasculitis as a presenting manifestation of lupus is rare. There have only been 14 such case reports in the literature so far.

Case 1: An 11-year-old girl presented with chest pain, breathlessness and cutaneous vasculitic rash. Her chest radiograph revealed cardiomegaly. 2D echo revealed coronary artery dilatation which was confirmed by cardiac CT revealing the presence of coronary aneurysms as well. Her autoantibody assays revealed presence of anti-nuclear antibody, anti-dsDNA antibody and hypocomplementemia, confirming diagnosis of SLE as per SLICC Criteria. Subsequently, she developed inflammatory polyarthritis and proteinuria; renal biopsy confirmed class IV lupus nephritis. She was treated with Steroids, Mycophenolate mofetil, Hydroxychloroquine and supportive measures. She responded well to the treatment, and at 6 months follow-up, the size of her coronary artery dilatation and aneurysms had decreased by over 90%.

Case 2: A 10-year-old girl presented with fever, chest pain, breathlessness and joint pains. There was cardiomegaly on chest X-Ray and 2D echo showed coronary artery aneurysms. Evaluating further, her antinuclear antibody, anti-dsDNA antibody, anti-Smith antibody and antiphospholipid antibodies (b2Gp1/aCl) were positive with hypocomplementemia confirming diagnosis of SLE as per SLICC Criteria. Additionally, she developed secondary hypertension, proteinuria, and kidney biopsy showed Class V Lupus Nephritis. She received steroids, methotrexate and hydroxychloroquine. After 3 months, her symptoms have resolved and the size of coronary aneurysms reduced by 50%.

Discussion: We present 2 children with coronary aneurysms in the context of SLE as the first presentation. Both did not have any features of Kawasaki and MIS-C. Both have responded to steroids and conventional immunosuppressants with no recurrence thus far.

Conclusion: Coronary vasculitis in SLE, though rare, is not unheard of. An astute cardiologist can detect this abnormality. Need of the hour, is to sensitize our fellow Physicians and Pediatricians of its incidence.


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Coronary artery dilatations: Think beyond Kawasaki disease

Ridhima Aggarwal, Prabal Barman, Archan Sil, Pallavi Nadig, Deepti Suri, Anju Gupta, Manphool Singhal1, Surjit Singh; Department of Pediatric Allergy and Immunology, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, 1Department of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Case Report: A 9-year-old boy presented with fever, redness of eyes and tongue for 3 weeks. Examination revealed bilateral cervical lymphadenopathy, and spleno-hepatomegaly. On investigation the child had pancytopenia, (Hemoglobin = 8.6 g/dL, Total leucocyte count = 4900/cumm, Differential count = 60% polymorphs, 35% lymphocytes and 5% monocytes, Platelet = 1.97 Lakh/cumm) with 2-dimensional-echocardiography suggestive of CAAs. Subsequently, 128-slice computed-tomography angiography revealed diffuse dilatation along the entire course of the coronary arteries. Child was treated as KD with macrophage activations syndrome with two doses of intravenous immunoglobulin (2 g/kg), cyclosporine (4 mg/kg/day), infliximab (5 mg/kg single-dose), methylprednisolone (30 mg/kg/day) and anakinra (4 mg/kg/day subcutaneous). Fever, cytopenias and transaminitis persisted despite aggressive treatment, which prompted us to rule out malignancies and chronic infections. Furthermore, child had seizures followed by altered behavior and neuroimaging revealed bilateral basal ganglia calcifications. We found significantly elevated EBV copies (2,92,200 copies/ml) in blood and (64,000 copies/ml) CSF, that showed an increasing trend. Genetic evaluation for inborn errors of immunity predisposing to EBV infections was negative. The child was diagnosed with CAEBV. Index child was given modified CHOP (Cyclophosphamide, Doxorubicin, Vincristine, Prednisolone). Subsequently, EBV viral load reduced, pancytopenia and hepatitis resolved. Child remained afebrile. Parents were counselled for HSCT.

Discussion: Kawasaki disease (KD) remains the most common cause of coronary artery aneurysms (CAAs) in pediatric age. Coronary artery dilatations rarely occur in systemic lupus erythematosus, polyarteritis nodosa, and systemic juvenile idiopathic arthritis. However, recent literature reports Chronic Active Ebstein-Barr Virus (CAEBV) infection to be associated with the same. CAAs, pancytopenia, basal ganglia calcification and hepatitis are described in CAEBV in Asian population. CAEBV is a sinister lymphoproliferative disorder treated by chemotherapy followed by hematopoietic stem-cell transplantation (HSCT).

Conclusion: Coronary artery dilatations, fever, pancytopenia and hepatosplenomegaly, must make one suspect CAEBV.[1] This condition remains a close mimic of KD.


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A case of neuro psychiatry systemic lupus erythematous with pachy meningitis, an unusual presentation: Case report

M N Arjun, Rahil Arora, Bhanu Pratap, S Hari Krishnan; Department of Rheumatology and Clinical Immunology, Command Hospital Air Force, Bengaluru, Karnataka, India

Background: Hypertrophic pachymeningitis (HP) is a relatively uncommon disease associated with focal or diffuse thickening of the dura mater secondary to underlying chronic inflammation. The association between systemic lupus erythematous (SLE) and HP is extremely rare.

Case Summary: A 52 years old lady, diagnosed as SLE in 2017, on basis of malar rash, non-erosive symmetrical polyarthritis, non-scarring alopecia [Figure 1], recurrent oral ulcers with immunological evaluation revealing positive Anti-nuclear antibody by indirect immunofluroscence (IIF): 3+ speckled pattern, dsDNA, Ro 52 kd and Anti Rib P. She presented in Aug 2022 with three weeks history of severe headache, acute confusional state, abnormal behaviour, and poor oral intake. Neurological examination revealed no signs of meningeal irritation or neurological deficits and no papilloedema on fundus examination. Investigations Hb- 9.4 gm/dl, PBS- normocytic/normochromic anemia, WBC 6440/mm3; UrineRE/ME- Proteinuria (++), no RBCs/casts; 24 hr urine protein: 426 mg, raised CRP:48 mg/l, ESR:99 mm/ 1st hour; Procal: 0.33 ng/ml, TSH: 24.86 uIU/ml, low complements C3 0.29 (1-1.9), C4 0.064 (1-1.9), Lupus anticoagulant: Neg, B2 GP 1: Neg,; raised IgG 26.7 (8-16), ANCA: Neg ; Lumbar puncture normal pressure, CSF acellular, protein 43.8 mg%. MRI Brain: Diffuse pre and post contrast showing enhancement of pachymeninges [Figure 2]. She was given pulse methyl prednisolone 1 g iv OD for 5 days, plasma exchange on alternate days for 5 sessions and Inj Cyclophosphamide 500 mg iv every fortnightly (EUROLUPUS regime). She started improving after the second dose of methyl prednisolone. A significant improvement in the patient's sensorium was observed, skin lesions were resolved, and joints swelling and pain subsided.
Figure 1: Systemic lupus erythematous with oral ulcers, angioedema and alopecia

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Figure 2: MRI brain: Diffuse enhancement of pachymeninges

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Conclusion: HP is a rare complication in SLE, and should be considered in SLE patients with severe and persistent headache. Early diagnosis and treatment lead to improvisation of patient's condition and prevents further neurological sequalae.


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Elderly onset pre-pulseless Takayasu's aorto-arteritis (TA) presenting with pyrexia of unknown origin (PUO)

P Patil, G Mangat, C Balakrishnan, S Kadam, S Yadav, S Baliga, A Patankar, G Sachdev; PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India

Introduction: TA affects the aorta and its main branches and presents in the 2nd and 3rd decades of life. We present 5 patients with elderly onset (>50 years), pre-pulseless TA who presented with PUO.

Results: The median age was 57 years (M: F – 3:2). All had PUO and weight loss. There was no pulse deficit, carotidynia or bruit in any. Inflammatory markers were raised. Serological markers, blood culture, urine culture, chest radiograph, ultrasound and 2DEcho were non-contributory. In the view of elderly onset PUO, PET-CT was done. It showed active uptake in the aorta and its branches. Since vascular uptake is also seen with atherosclerosis, vascular remodelling or fibrosis, and there was no clinical evidence of TA, MRA was done to re-confirm the diagnosis. All patients responded to therapy.

Conclusion: 5 elderly patients with TA presented with PUO and weight-loss. Although PET-CT suggested TA, since clinical diagnosis could not be made, MR angiography reconfirmed the diagnosis.


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A rare case report of Hemansky Pudlak syndrome

Praveen Valsalan, Joe Thomas, Nayantara Shenoy, Thamizharasan; ASTER Medicity, Kochi, Kerala, India

Background: Hermansky- Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and other organ involvement such as pulmonary fibrosis & granulomatous colitis. 11 types of HPS have been recognized associated with 11 different genes mutations, causing altered biogenesis of lysosomal enzymes and intracellular protein trafficking. It is rare with prevalence of 1 to 9 per million individuals worldwide, but is more common in Puerto Rico where 1 in 22 people carry this mutation. Three cases of HPS 1 have been reported in India till now and is under-recognized. The woman discussed here is a 54 yr old female k/c/o ILD with family H/o 3 sisters with fatal ILD. She had category B Covid pneumonia in December 2020, then became oxygen dependent. Now came with c/o cough and breathing difficulty for 1 week and one episode of cough syncope. On examination: Conscious, oriented, bilateral pedal edema. HR: 106 /min; BP: 130/80 mmHg; RR: 30/min; SpO2: 97% on 7L O2-facemask; CVS: Loud P2. RS: B/L crackles; P/A: soft; Bowel sounds+; CNS: Nystagmus both eyes; L/E: Albinism. Eye: Visual acuity: RE 6/36p with correction 6/36; LE 4/60 with correction 6/36p with Nystagmoid movements. Fundoscopy: Pale fundus. Differentials: Chediak Higashi syndrome; Griscelli syndrome, Oculocutaneous albinism, Hermansky Pudlak syndrome. Investigations: Spirometry - Restrictive pattern. Echocardiogram – Moderate TR and MR. RA, RV and MPA dilated. Severe PAH. Stretched patent foramen ovale. c and p ANCA negative; Anti CCP <7; ANA profile & immunofluorescence negative; RF <10. Genetic test—Clinical Exome test - HPS1 – Exon 12- Homozygous- Autosomal recessive. Diagnosis: Hermansky Pudlak syndrome -Type 1.

Discussion: In our case 4 differential diagnoses was considered and then with genetic testing Hermansky Pudlak syndrome was confirmed. She died in hospital on 12/8/2022 due to Type 1 Respiratory failure.


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Fungal infections in ANCA vasculitis: Infection versus flare? – The dangerous mimics!

Sahana Baliga, C Balakrishnan; P D Hinduja Hospital and Research Centre, Mumbai, Maharashtra, India

ANCA vasculitis is characterised by small vessel necrotising granulomatous inflammation with an incidence of 1.2-2 cases per million population worldwide. Lot of advances in the treatment of relapsing /refractory cases have emerged. However, they come with a risk of increased infection, which is often poses a diagnostic challenge. Here we present 4 such cases of ANCA vasculitis who were initially treated with immunosuppressive therapy but later developed fungal infections. Case 1, diagnosed case of ANCA whilst on treatment for fungal infections, developed pachymeningitis that turned to be disease related. Second Case of Known ANCA presented with diffuse alveolar haemorrhage treated with pulse steroids, plasmapheresis and cyclophosphamide. 3 weeks post discharge developed mucor and aspergillus in the lung [Figure 2]. Case 3 A known ANCA in remission, presented with right eye psuedotumour [Figure 1] and hemiparesis. ANCA titres were high. She was thought to be disease related treated with iv steroids and cyclophosphamide elsewhere which later turned to be aspergillus fumigatus. Lastly a 14-year-old girl diagnosed as GPA treated with steroids and IV cyclophosphamide After 7 months on azathioprine maintenance, she presented with pneumonia which was diagnosed as Aspergillus fumigatus on BAL.



Discussion: From the 4 cases, fungal infections closely mimic vasculitis. They tend to occur in resistant vasculitis. Among these patients this could not be initially thought of and can easily be overlooked as a flare. Risks of infection are strikingly high among patients (6-67%) with ANCA vasculitis, both due to disease and its treatment. The treatment for a purported flare could be disastrous. There is no consensus on prophylactic antifungal therapy till date.

Conclusion: In ANCA vasculitis patients who are adequately immunosuppressed, if there is a purported flare, before immunosuppression is escalated, care should be taken to rule out infections, especially fungal infections.


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MRI hip points to diagnosis of acute leukemia – A critical catch!

K V Anil Kumar, Vineeta Shobha, Ramya Janardhana, Revanesh S Mirji, Parimala Puttaiah, A M Shanthala Devi, Latha Fathima1; Departments of Clinical Immunology and Rheumatology and 1Pathology, St. John's Medical College and Hospital, Bengaluru, Karnataka, India

Background: Exclusion of hematologic malignancy is critical while diagnosing Juvenile inflammatory arthritis (JIA) especially systemic onset JIA.

Case Summary: A 12-year-old boy presented with 3 weeks of additive, inflammatory arthritis of bilateral small and large joints. He reported febrile illness lasting for 4 days, one month prior to onset of arthritis. Laboratory work-up revealed elevated inflammatory parameters (both ESR and CRP) and negative rheumatoid factor, antinuclear antibody, blood counts and peripheral smear. There was no hepatosplenomegaly or lymphadenopathy. Considering a diagnosis of RF negative polyarticular JIA, he was administered a brief course of low-dose oral steroids followed by oral weekly methotrexate, with which his arthritis resolved. Two months later, he presented with acute hip and back pain. Examination revealed bilateral hip joint and iliac bone tenderness. There was no nocturnal pain and no active arthritis in previously inflamed joints. MRI of pelvis [Figure 1] showed T2, STIR hyperintense lesions in both iliac bones with surrounding muscle edema and bilateral hip effusion. The presence of bony lesions raised suspicion of acute leukemia despite normal blood counts. A bone marrow aspiration, biopsy and flow cytometry confirmed the diagnosis as Acute B cell lymphoblastic leukemia (B-ALL) [Figure 2]. Presence of nocturnal pain, absence of morning stiffness can point towards an alternate diagnosis. Apart from deranged blood counts; elevated blood uric acid levels and lactate dehydrogenase can point towards the diagnosis of leukemia, however, there was no indication for evaluating these blood parameters in our case.
Figure 1: MRI brain showing right eye pseudotumor

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Figure 2: CT chest showing nodular and cavitatory lesions

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Conclusions: We report B-ALL masquerading as RF negative polyarticular JIA with the initial response to methotrexate therapy.


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IgG4 related retroperitoneal fibrosis presenting with para-aortic mass with prior episode of pancreatitis

S Gormley1,2, P Tacuri Bravo3, X Kos4, K Solanki2,5, M Khashram1,6; Departments of 1Vascular Surgery, 3Histology, 4Radiology and 5Rheumatology, Waikato Hospital, Hamilton, 2Waikato Clinical School of Medicine, Auckland University, 6Department of Surgery, University of Auckland, Auckland, New Zealand

Background: IgG4-RPF is a progressive fibro-inflammatory immune mediated disease characterized by potentially destructive inflammation and fibrotic mass. It is associated with elevated serum IgG4 levels (usually) and infiltration of IgG4-positive plasma cells in single or multiple tissue sites. We present a 73-year male Caucasian with following features. 3-week history of left flank pain radiating to the groin and dark urine. He had an episode of pancreatitis 20 months prior. His full blood count, renal function and liver function tests were normal with ESR 82 mm/hr and CRP 36 mg/L. Serum IgG4 levels were raised at 3.26 g/L (Normal: 0.08 – 1.65 g/L). Rheumatological screen were negative for ANCA, hepatitis B, C, HIV, syphilis and TB. CT angiogram (CTA) showed extensive para-aortic soft tissue changes around the abdominal aorta and common iliac arteries causing left ureteric obstruction and hydronephrosis of the left kidney [Figure 1]a.
Figure 1: (a) Para-aortic soft tissue canges. (b) Para-aortic soft tissue thickening with significant isotope uptake (yellow arrows), soft tissue thickening anterior mediastinum (green arrow)

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PET-CT scan was arranged for biopsy accessible sites [Figure 1]b of significant isotope uptake correlating with inflammation.

As the mediastinal tissue was accessible, he underwent biopsy of that. The histochemical examination confirmed increased plasma cells, IgG4 cells and storiform fibrosis [Figure 2].
Figure 2: (a-d) Histology: H&E stain-storiform fibrosis (green). H&E stain-plasma cells (green arrows). Red arrows points to brown staining IgG4 (with special stains)

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He was commenced on oral prednisone (1 mg/kg) and mycophenolate mofetil 1 g twice a day. Ureteric stent inserted to relieve hydronephrosis. Repeat CTA at 1 month showed stable appearances of the aortic wall thickening with no relapse of hydronephrosis. Repeat MRI scan at 12 months showed resolution with no evidence of hydronephrosis or ureteric dilatation.

Discussion: Diagnosing early and differentiating IgG4-RPF from other diseases can result in success with medical treatment. It will also prevent unnecessary surgical interventions. In our case PET-CT scan was helpful to locate accessible biopsy site. Successful resolution can occur with corticosteroids and mycophenolate mofetil (rituximab would have been the alternative choice but would have required Governmental approval).


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A rare cause of low backache and myalgia

Anjana G Varier, Vishad Viswanath, M Ajith1, K V Vysaka2; Institute of Rheumatology and Immunology Sciences, 1Ananthapuri Hospitals and Research Institute, 2GG Hospital, Thiruvanathapuram, Kerala, India

Patient 1: Our first patient is a 22-year-old lady who presented with 3-month history of low back ache. It was severe and continuous in nature with no diurnal variation. She also complained of excessive sweating, drooling and hesitancy in passing urine. Evaluation outside had shown elevated ESR, normal CRP, HLA b27 was negative. MRI SI joint and Lumbar spine was normal. She was referred to us because myositis profile done had shown multiple antibody positivity. Repeat testing of same was negative. On retaking the history, she complained of cramps and twitching movement felt in her muscles. Hence a suspicion of neuromyotonia was made and anti-VGKC antibody tested positive for antiCASPR2. She was treated with IVIG and high dose steroids with which her symptoms improved.

Patient 2: Second patient was a 33-year-old male with history of abdominal TB post treatment who presented with complaints of polyarthralgia and bilateral thigh pain of 1-year duration. No features of proximal muscle weakness. He also complained of intermittent twitches on his arms. On evaluation ESR was elevated. ANA was positive with anti-Smith positivity but complements and dsDNA were normal and there was no nephritis. His CPK was slightly elevated. Hence an EMG was done to look for myopathy but it demonstrated fasciculation, fibrillation potentials and positive sharp waves with florid myokymia suggestive of peripheral nerve hyperexcitability. A diagnosis of Isacc syndrome was made and started on benzodiazepines with which his symptoms improved. Test for anti-VGKC antibodies were negative.

Discussion: Neuromyotonia is a rare condition of spontaneous and continuous muscle fibre activity of peripheral nerve origin. We describe two cases of neuromyotonia who presented to our centre with symptoms mimicking rheumatological disorders.

Conclusion: Neuromyotonia is rare disorder that can present with rheumatological symptoms which needs high index of suspicion for diagnosis.


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Charcot's neuropathic arthropathy – When no pain is not pleasure!

Naziya Perveen Maldar, Archana Khan, Anushka Prabhudesai, Raju Khubchandani; Department of Paediatric Rheumatology, NH SRCC Children's Hospital, Mumbai, Maharashtra, India

Background: Charcot neuropathic osteoarthropathy (CNA) is a rare eponymous condition associated with autonomic-sensory neuropathy. Warm, painless boggy joints and instability, erosive arthropathies, chronic osteomyelitis and deformities are the predominant manifestations. Differentials are congenital insensitivity to pain and anhidrosis, familial dysautonomia, hereditary sensory and motor neuropathy (Charcot-Marie-Tooth disease), traumatic nerve injuries, syringomyelia and meningomyelocele.

Objectives: To prevent administration of unwarranted immunomodulatory therapy with and to establish early diagnosis with clinical clues.

Methods: Case 1: [Table 1], 18-month-old girl born of third-degree consanguinity, presented with low grade fever, tender hard swelling around the right shoulder extending to the distal forearm with palmoplantar skin rash. Suspecting hereditary autoinflammatory bone disease, a clinical exome was performed. On reverse phenotype correlation there was history of self-mutilation, absence of pain during immunization with anhidrosis. Case 2: [Figure 2], an 8-year-old boy was referred for fever and right ankle swelling, misdiagnosed as JIA, was on steroids and disease modifying drugs. There were hyperkeratotic lesions on both heels and large warm, boggy left ankle swelling albeit with a full and painless range of motion. Neurological evaluation suggested gait disturbance with insensitivity to pain. Suspecting a syndromic arthropathy, a whole exome was sent. Case 3: [Figure 3], 7-year-old boy had trauma induced fracture followed by painful swelling that progressed into chronic osteomyelitis in distal shaft of left tibia. He had a limp, boggy left ankle, high steppage gait with foot drop and reduced sensations in the affected foot. He was treated by debridement with saucerization of left distal tibia with common peroneal nerve release.
Figure 1: Case 1: CIPA

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Figure 2: Case 2: CIPA

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Figure 3: Case 3: Traumatic peroneal neuropathy

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Table 1: Patient Characteristics

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Conclusion: CNA may remain undiagnosed for long and be mistaken for commoner rheumatological entities. Management consists of counselling regarding the disease, need for orthotics and prevention of accidental or thermal injuries. Simple questions pertaining to pain perception, sweating, local hair loss and bedside neurological evaluation easily provide the diagnosis.


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Post COVID adult onset still (AOSD) disease

Sumeet Chatterjee, Jaya Chakravarty, Manaswi Chaubey, Tamanna Singh, Somil Singh, Akhil Gupta, Kapil Dev Meena; Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Background: AOSD is an inflammatory disorder with unknown aetiology. Here we present a case of 56 Years old female, k/c/o T2DM and Hypertension presented with chief complaints of Fever x 3 months, Generalised weakness x 3 months.

Discussion: 56 years old female, k/c/o T2DM and Hypertension presented with chief complaints of Fever x 3 months, Generalised weakness x 3 months. Patient was hospitalised 3 times in last 3 months. Previous medical records showed persistent leucocytosis with transaminitis. CECT thorax + abdomen showed multiple lymph nodes in pre paratracheal and B/L axillary group of lymph nodes with mild hepatosplenomegaly. Hence ATT was started empirically from last 20 days before presentation, but her fever didn't subside nor clinically improved. Examination showed pallor, pedal oedema and mild splenomegaly of 2 cm. CBC showed anemia with neutrophilic leucocytosis. LFT showed transaminitis. On day 5 of hospitalization, patient developed erythematous rash, which she had twice in previous 3 months, leading to the suspicion of adult onset still disease. RA factor, anti CCP, ANA and other collagen profile were negative. Ferritin was 90000 (very highly raised), CRP raised, and covid antibody was positive IgM and IgG (though she was never RT PCR positive or vaccinated). Patient satisfied 3 major criteria and 4 minor criteria with no exclusion criteria of Yamaguchi criteria. ATT was withheld and she was started on 1 mg/kg prednisolone for 1 month tapered across next 1 month to which she responded. On follow up general condition improved, anemia, leucocytosis and transaminitis improved. And ferittin also became normal by 2 months.

Conclusion: Systemic AOSD is very rare, hence high index of suspicion is required to diagnose. Post covid AOSD is also very uncommon. All pyrexia of unknown origin is not Tuberculosis, hence usage of empirical ATT is very controversial.


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Psychosis in systemic lupus erythematosus with secondary antiphospholipid syndrome – A case report

Upasana Agarwal, S S Nelson; Department of Medicine, NSCB Medical College and Hospital, Jabalpur, Madhya Pradesh, India

Background: Neuropsychiatric manifestations in systemic lupus erythematosus (SLE) are common; however, psychosis per se is bit uncommon. They may be cognitive deficit, lupus headache, psychoses, seizures, peripheral neuropathy, and cerebrovascular events. Presently we are discussing about a single case of SLE with psychosis and which had different clinical presentation.

Discussion: The most common neuropsychiatric manifestations in SLE are cognitive deficit (49.33%), lupus headache (23.11%; in 57.69% of these patients, tension-type), psychoses (12.00%), seizures (10.67%), and cerebrovascular events (9.78%). Typical central nervous system (CNS) changes for NPSLE during magnetic resonance image examination are the multiple lacunar infarctions with temporal localization as well as a parenchymatous cerebral atrophy. Here we report a case of 17-year-old unmarried woman from middle socioeconomic status with urban background known case of SLE with lupus nephritis was stable on HCQS and MMF and 5 mg prednisone for Lupus Nephritis and Pancytopenia came with complaints of headache, irrelevant behavior and disorientation, hallucination. The patient was evaluated for APLA secondary to SLE and organic brain involvement with neuroimaging. She was found to have positive lupus anticoagulant and MRI showed diffuse cerebral atrophy. She was managed with NOACs and antipsychotics.

Conclusion: Psychosis in patients for SLE should be evaluated with immunological, clinical, psychological as well as radiological tests. Psychosis in patients with SLE has to be differentiated from functional psychosis, delirium, steroid psychosis, and other drug-induced psychosis.


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Double trouble: A case of systemic lupus erythematosus with disseminated tuberculosis and cryptococcal meningitis

Debaditya Roy, Koushik Mukherjee, Partha Ghorai, Biswadip Ghosh; Institute of Postgraduate Medical Education and Research (IPGMER), Kolkata, West Bengal, India

Background: Opportunistic infections (OI) contribute to significant morbidity and mortality in Systemic Lupus Erythematosus (SLE). Mycobacterium Tuberculosis (MTB) remains one of the common OI in India while Cryptococcal meningitis is an OI, especially in HIV & other immunosuppressed populations with a high mortality rate.

Discussion: 23 years old female Juvenile SLE patient with a history of constitutional, hematological, musculoskeletal, mucocutaneous and renal (significant proteinuria) was started on antitubercular treatment (ATT) due to pulmonary & extrapulmonary (abdominal) Tuberculosis following a workup for fever, cough, and abdominal pain. However, even after 2 months of taking ATT, fever persisted along with a new-onset headache. MRI revealed likely Tuberculoma [Figure 1] with MR Spectroscopy showing lipid-lactate peak. Bronchoalveolar lavage (BAL) for CBNAAT detected MTB with no resistance. She also had high serological disease activity and active proteinuria. Viral Markers were negative including HIV. Fever subsided after high dose dexamethasone was initiated assuming drug resistance due to poor response to ATT with CNS Tuberculosis as primary suspicion based on imaging but she soon developed diplopia with complex partial seizures while the headache continued. Ruling out raised intracranial pressure, a CSF was done which showed Cryptococcus species on India Ink staining. Culture growth showed C. neoformans [Figure 2]. CSF CBNAAT for MTB was negative. She was started on antiepileptic therapy along with intravenous Amphotericin B and Fluconazole. She was given 4 weeks of continued induction phase due to poor response to antifungals in the first 2 weeks evidenced by a CD4 count of 91 and positive culture growth. At 1 month, a repeat fungal culture was negative and she was discharged asymptomatic on ATT, Fluconazole & Antiepileptic therapy with a tapering regimen of oral Dexamethasone. She is on regular follow-up and doing well.
Figure 1: (a-c) Multiple peripherally conglomerated rim enhancing lesions with central necrotic areas noted in the left cerebellar hemisphere; Lesion attached to tentorium cerebelli. Lesions were also noted at bilateral basal ganglia region; suggestive of tuberculoma. (d) MR spectroscopy shows choline: Creatinine marginally elevated (1.57) with lipid lactate peak. NAA normal

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Figure 2: (a-c) Microscopy showing India ink staining of cryptococcus indicated by large white double ringed circles (a and c) and small white circles (b) respectively as per magnification. (d) Positive culture growth of Cryptococcus neoformans as seen in sabouraud dextrose agar tube

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Conclusion: This case report demonstrates that in a Lupus patient with Tuberculosis, drug resistance is not always the rule of the thumb as a causal factor for a poor response to Antitubercular treatment. A thorough lookout for plausible opportunistic fungal causes like Cryptococcosis might hold the key to the diagnosis & further treatment.


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A rare case of ocular Behcets in a patient of Takayasu arteritis with HLA b27 positive

Vishnu Sharma, Nikunj V Dadhaniya; Department of Rheumatology, Apollo Hospitals International Limited, Ahmedabad, Gujarat, India

Pan uveitis is not considered to be a part of Takayasu arteritis rather it is more commonly seen with Bechet's disease. We present a rare case of Takayasu arteritis which presented as bilateral panuveitis with ocular findings typical of Behcets disease and HLA B27 positivity. A young 28-year-old female admitted with complains of sudden onset severe headache with blurring of vision both eyes. Her routine investigations were normal except high ESR and CRP. Ophthalmology Examination was suggestive of bilateral panuveitis. On further evaluation her HLA B27 came positive but HLA b51 was negative. Based on Ocular findings she was diagnosed as ocular Behcets and started on Inj Cyclophoshamide by treating rheumatologist. She responded initially but had relapse of disease on tapering doses of prednisolone to 5 mg/d even after 6 doses of Cyclophosphamide. She consulted at our center for second opinion. On examination she had feeble right radial pulse and b/l carotid bruit. Carotid doppler was suggestive of Takayasu arteritis Patient was started on Inj Adalimumab 40 mg once in 15 days with Inj Methotrexate 15 mg/week with tapering doses of steroids. She was much better after completing 6 doses of Inj Adalimumab but vision in right eye didn't improve. Hence, she was shifted to Inj Tocilizumab 162 mg SC once a fortnight with Inj Methotrexate. After completing 6 doses her vision remained same, but disc edema and other features of active uveitis are much better. A young 28-year-old female admitted with complains of sudden onset severe headache with blurring of vision both eyes. Her routine investigations were normal except high ESR and CRP. Ophthalmology Examination [Figure 1],[Figure 2],[Figure 3] was suggestive of bilateral panuveitis. On further evaluation her HLA B27 came positive but HLA b51 was negative. Based on Ocular findings she was diagnosed as ocular behcets and started on Inj Cyclophoshamide by treating Rheumatologist. She responded initially but had relapse of disease on tapering doses of prednisolone to 5 mg/d even after 6 doses of Cyclophosphamide. She consulted at our center for second opinion. On examination she had feeble right radial pulse and b/l carotid bruit. Carotid Doppler was suggestive of Takayasu arteritis Patient was started on Inj Adalimumab 40 mg once in 15 days with Inj Methotrexate 15 mg/week with tapering doses of steroids. She was much better after completing 6 doses of Inj Adalimumab but vision in right eye didn't improve. Hence, she was shifted to Inj Tocilizumab 162 mg SC once a fortnight with Inj Methotrexate. After completing 6 doses her vision remained same, but disc edema and other features of active uveitis are much better.
Figure 1: Retinal image at 1st visit

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Figure 2: Retinal image after 3 months

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Figure 3: Retinal image after 8 months

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Intracranial vascular involvement in Takayasu (TAK): Review based on six cases managed at a tertiary health care centre

S Yadav, R Samant, A Patankar, C Sankhla; PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India

Background: Neurological symptoms in Takayasu Arteritis (TAK) are commonly attributed to uncontrolled hypertension, stenosis, and emboli from proximal aortic lesions. Intracranial vascular involvement though rare is an important cause of neurological symptoms. We present a retrospective analysis of TAK (ACR Criteria) patients with intracranial vascular involvement managed at our centre.

Discussion: Six patients (female 4) with a mean age of 35.3±11.5 years at diagnosis of intracranial lesion were analyzed. Stroke (4/6) was most common followed by transient ischemic attack (2/6), seizure (2/6), visual loss (1/6), and subarachnoid haemorrhage (1/6). In 50% of patients, above symptoms were the presenting features [Table 1]. The internal carotid artery (ICA) was most commonly involved in 5/6 patients, followed by the Middle cerebral artery (MCA) (3/6) and anterior Cerebral Artery (ACA) (2/6). Bilateral ICA involvement was seen in 4/6 patients, with unilateral in 1/6. 3/6 patients had extensive involvement of cervical, petrous, cavernous, and intracranial parts of ICA and 2/6 had limited cervical involvement. In 3/6 patients, ICA was concurrently involved with the MCA and in 2/6 with ACA. Intracranial vascular lesions were identical to their extracranial counterparts. Concentric wall thickening and segmental stenosis were seen in most cases, with complete occlusion in one and aneurysm with intracranial hemorrhage in one patient. Involvement of ICA was contiguous with the common carotid artery (CCA) in all the cases. Majority of patients (5/6) had widespread aortic involvement that extended beyond the commonly afflicted branches (Numano5-5/6), as reported by other authors. All patients received treatment with prednisolone and steroid sparer (MTX-4, MMF-2) with response to treatment in 4/6 and a recurrence in 2/6. Mean follow-up duration was 11.83 years (1-19 years). Two patients needed CCA and M1 segment of MCA stenting, respectively.
Table 1: Characteristics of 6 patients with intracranial Takayasu arteritis

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Conclusion: Intracranial vascular involvement in TAK patients is a rare finding and needs a high index of suspicion for diagnosis.


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A case report of a parasite which played as myositis mimic

Rashwith Umesh1, Padmanabha Shenoy1,2, Anu Sreekanth1, Anuroopa Vijayan2, Kaveri Nalianda2; 1Sree Sudheendra Medical Mission, Kochi, 2Centre for Arthritis and Rheumatism Excellence, Nettore, Kerala, India

Case Report: Patient was a 72 year old gentleman, who was a diagnosed case of seropositive RA in remission being on csDMARD's (leflunomide, MTX,) now had presented with High grade fever, generaised myalgias and progressive proximal muscle weakness since 2 weeks. On initial evaluation, was found to have elevated muscle enzymes with myositis profile being negative. Hence PET CT was considered which showed diffuse uptake in skeletal muscles of limbs. Hence a diagnosis of Autoimmune Inflammatory Myositis was done was started on treatment with Pulse Methylprednisolone, however the patient worsened with raise in muscle enzymes, which led to renal failure. Hence immediate Muscle biopsy was done that revealed mild focal interstitial infiltrate of histiocytes /lymphocytes /plasma cells and eosinophils with focal parasitic infestation possible sarcocystis infestation (fungal stain negative). Hence ID specialist opinion was taken and was initiated on Albendazole followed by cotrimoxazole. However, the patient detoriated with multiorgan failure and succumbed after 2 weeks of hospitalization.

Discussion: Patients with autoimmune myositis typically present with muscle weakness and elevated serum levels of muscle enzymes. However, patients with other acquired myopathies may have remarkably similar presentations. Making the correct diagnosis of another muscle disease can prevent these patients from being exposed to the risks of immunosuppressive medications and may guide the proper treatment. Herein we report a case which mimicked Myositis, where we could diagnose with the aid of Muscle Biopsy. Similar to our case, few case series have been published in Malaysia with good recovery to treatment.

Conclusion: A thorough history, physical exam, laboratory evaluation, and muscle biopsy analysis play a significant role to distinguish myositis mimics from true autoimmune myositis.


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Diagnosing still's disease? Rule out tuberculosis first

T Prem Venkat, R Mohammed Iliyas, C Vaideki, Gayathri Ranie, K V Vinod, Chanaveerappa Bammigatti; Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India

Background: Tuberculosis (TB) is a great mimicker. Since TB often presents with nonspecific symptoms and signs, the diagnosis may not be considered. Diagnosis of TB becomes difficult in such cases because of frequent false negative results with standard diagnostic tests. This leads to wrong diagnosis and treatment which can be fatal.

Case Report: A 17-years old girl presented with 4 months history of bilaterally symmetrical joint pain of both large and small joints with early morning stiffness for 30 minutes associated low grade fever, anorexia and alopecia. Examination revealed pallor, alopecia, emaciation, hepatosplenomegaly and arthritis of bilateral shoulder, elbow, knee, ankle and small joints of the hands. Laboratory investigations revealed severe microcytic hypochromic anaemia, neutrophilic leucocytosis, elevated ESR, periarticular osteopenia, negative ANA and RF. Investigations for TB were negative. Patient was diagnosed as having Still's disease as per Yamaguchi criteria and was started on Prednisolone 10 mg/day and Hydroxychloroquine 200 mg/day. After 2 months patient was lost to follow up. She presented again after 3 months with worsening symptoms. Evaluation this time revealed hypercalcemia, suppressed PTH, elevated alkaline phosphatase and GGT, elevated serum ferritin. Her fever increased along with tachycardia and developed altered sensorium. CSF examination revealed elevated protein and low sugar with no cells. CECT thorax and abdomen revealed miliray TB with necrotic intraabdominal lymph nodes. Patient was initiated on broad spectrum antibiotics, ATT and steroids. Despite of treatment there was progressive deterioration in patient's condition and she succumbed to her illness. Limited post mortem autopsy revealed granulomatous inflammation suggestive of disseminated TB involving liver, spleen, lung and cervical lymph node with secondary hemophagocytosis seen in liver.

Discussion: Still's disease is a diagnosis of exclusion. Connective tissue diseases, infections and malignancies must be ruled out before diagnosing Still's disease.

Conclusion: TB should be ruled out before diagnosing Still's disease.


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Takayasu arteritis: A case report of a pediatric patient with atypical clinical presentation

R N Tejaswini; ESIC Medical College and Hospital, Hyderabad, Telangana, India

Introduction: Takayasu arteritis (TA) is a rare chronic inflammatory disease affecting large vessels mainly the aorta and its branches. Diagnosis of Takayasu arteritis in paediatric population is challenging due to its non-specific symptoms.

Case Report: An 18 year old girl presented with abdominal pain for two months duration which was spasmodic type, intermittent in nature, associated with non-bilious, non-blood-tinged vomiting mostly containing food particles. Such episodes were primarily triggered by consumption of food and lasted 15 to 20 minutes and subsides with analgesics. She denied any fever or blood in stools. Her past history was significant for 2 episodes of breathlessness, anasarca and giddiness in the past 2 years for which she was admitted into MICU at a tertiary care hospital and diagnosed as dilated cardiomyopathy with severe left ventricular systolic dysfunction, iron deficiency anemia. Coronary angiogram was normal. She was managed conservatively. She again presented with similar complaints in March 2022 at a cardiology centre and was then evaluated with CT coronary angiography. She was referred to rheumatology department for further management. On examination, she was chachectic with BMI of 17. She was afebrile with a pulse rate of 76/min. Left radial, brachial, axillary were absent. Left carotid artery and subclavian artery, bilateral femoral, popliteal, dorsalis pedis pulses were feeble. Bilateral carotid artery and abdominal bruit were present. There was no carotidynia. Blood pressure in her right upper limb was 128/67 mm Hg, in her left upper limb was 82/46 m Hg, in her right lower limb was 114/92 mm Hg, in her left lower limb was 92/78 mm Hg. Cardiac examination revealed left ventricular apex displaced to left 6 th intercostal space lateral to left midclavicular line. Laboratory tests showed iron deficiency anemia with elevated ESR – 67. Mantoux test was negative. 2DECHO showed global hypokinesia of left ventricle, severe stenosis of thorasic aorta with a thorasic and abdominal aorta gradient of 70 mm HG. Severe LV systolic dysfunction with EF of 29%, moderate TR and mild PAH, mild MR. CT angiography showed circumferential wall thickening involving descending thoracic aorta for a length of 10 cm with maximal luminal narrowing of 4 mm at D11 vertebrae. There is circumferential wall thickening with significant narrowing of lumen in left common carotid artery from its origin. Left subclavian artery could not be visualized [Figure 1]. In view of severe episodic abdominal angina, ultrasound with Doppler of superior mesenteric artery was done which was normal. She was given pulse steroids and tocilizumab followed by oral corticosteroids and methotrexate as steroid sparing agent. A cardiologist consult was taken for the need of percutaneous stenting once the disease is in remission.
Figure 1: (a) PET CT showing diffuse wall thickening in Arch of Aorta; (b) MR angiography showing near complete occlusion of Internal carotid artery; (c) PET CT showing bilateral subclavian artery (yellow arrow) and right common carotid artery (red arrow) narrowing and calcification; (d) PET CT showing calcification in wall of the bilateral common iliac artery

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Discussion: Takayasu Arteritis (TAK) is the most common form of large-vessel vasculitis in children and is characterized by granulomatous inflammation of the aorta and its major branches. In c-TK, median age at disease onset was 12.5 years with female:male ratio 26:14. Patients had been diagnosed with TA after a median delay of 11.3 months prior to being diagnosed with TA. Hypertension is the most common presenting finding. Constitutional symptoms have been reported to be twice as common in pediatric patients compared with adult patients. The angiographic type seen in the majority of children (53%) was type 5 disease followed by type 4 (25%), type 1 (10%), type 3 (8%), and type 2 (5%). Thus, altogether 78% of this cohort had involvement of subdiaphragmatic aorta. Post prandial pain, constitutional symptoms in the setting of absent pulses can be a vital clue to suspect and diagnose large vessel vasculitis. A thorough examination, including palpation of peripheral arteries, auscultation for bruit, measuring blood pressure in all four limbs goes a long way in diagnosing rare clinical entities like childhood TAK and helps in reducing the delay in diagnosis and management.


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Multiple arterial thrombosis, arthritis and neuropathy

V Pranavi, Sakir Ahmed; Department of Clinical Immunology and Rheumatology, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India

Background: A 25-year-old male patient with no comorbidities presented with pain in the right ankle for 10 days and lower abdominal pain for the 4 days. He had loose stools 10 days back for about 2- 3 days, 6-7 episodes per day, watery in consistency. He denied fever, cough or any mucosal ulcers. Examination was normal except right ankle arthritis and periumbilical tenderness. Acute phase reactants were raised along with anaemia and thrombocytosis (6 lakh cells/ cu.mm). Leucocytes and blood biochemistry were normal except for low albumin. Initially, he was managed as reactive arthritis but he developed pain in the right calf. Doppler sonography revealed thrombosis of right popliteal artery. Next day he also developed paraesthesias in the right foot and within few hours he developed foot drop. CT angiogram of aorta with its branches showed multiple thrombi in the abdominal aorta and its branches. Echocardiography showed a large left ventricular clot [Figure 1] and ischemic cardiomyopathy. He was started on injection heparin and emergency aortogram was done. Balloon dilatation for the aortic thrombus, Fogerty's embolectomy of right popliteal thrombus and bilateral common iliac arteries was done. Urine culture revealed no growth. ANCA and Antiphospholipid antibodies was negative. Pathergy test was negative. He also developed pregangrenous changes in the toes. With arthritis, mononeuritis multiplex, abdominal angina with diarrhoea, and digital ischemia, a provisional diagnosis of polyarteritis nodosa was made and he was treated with steroids and cyclophosphamide according to EUVAS protocol. His pain abdomen started reducing and he started showing improvement.
Figure 1: CTA showing stenosed thorasic aorta and origin of left subclavian artery

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Discussion: Diagnosis of PAN maybe challenging in the initial stages. Thrombosis in the setting of vasculitis should be considered as thrombo-embolic and cardiovascular manifestations and complications are most commonly found in the vasculitides with necrotizing vascular inflammation, i.e Behçet's disease, Buerger's disease, Kawasaki's syndrome, polyarteritis nodosa and vasculitis of rheumatoid arthritis.

Conclusion: Vasculitides have atypical presentations and may also present with arterial thrombosis.


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Semiquantification of Gouty arthritis by FDG PET CT imaging

Anurag Jain, Arun Hegde, Harkirat Singh, Abishek Mahato, Awadesh Tiwari; Command Hospital, Armed Forces Medical Services, Lucknow, Uttar Pradesh, India

Background: Gout is a common type of inflammatory arthritis that results from accumulation of monosodium urate crystals in joints and soft tissues. We present here an interesting case of gout where F-18 FDG PET CT whole body scan proved a potential tool in establishing the burden of inflammatory and structural disease and also commented on semiquantitave treatment response.

Case: A 52-year-old male patient who is a known case of Chronic tophaceous gout for 05 year duration with multiple episodes of flare managed with NSAIDS, allopurinol, colchicine and Febuxostat. F-18 FDG PET CT whole body scan was done to assess the disease burden. The scan revealed metabolically active involvement of multiple small and large joint involvements with juxta articular erosions, irregular sclerotic margins and joint space narrowing. There were extensive tophaceous deposits with surrounding soft tissue inflammatory FDG uptake [Figure 1], studied as Standard Uptake Values in gm/ml to semi quantify disease SUV max-5.31.
Figure 1: Echocardiography showing large left ventricular clot

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Discussion: In clinical practice, imaging like ultrasound, radiograph and computed tomography are considered for evaluating the presence and extent of crystal deposition and structural changes for management and monitoring the response to urate-lowering therapy. Ultrasound and dual energy computed tomography (DECT) are already an established modality.[2] Imaging can also be used to monitor treatment response.[3] MRI is sensitive although not specific.[4] Although some scoring systems are available the role of imaging assessment in treatment response along with comprehensive clinical assessment, will be essential.[5] There is an increasing potential of whole body FDG PET CT to quantify the disease and transform the management of gout to limit its morbidity.

Conclusion: To summarize, the different imaging modalities assist clinicians for accurate diagnosis and can aid in differentiating gout from other inflammatory arthritis conditions. Ultra sound and DECT have the ability to assist in monitoring response to treatment. Role of CT and MRI, is proved in understanding the disease. FDG PET CT is a potential tool to characterize the disease architecture, extent and simultaneously quantify based on its metabolic activity. More such studies will improve our understanding the inflammatory burden of gout and therapy response, by developing a scoring system based on quantification.


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AIDP – A rare entity of neuro-lupus complicated by infection

Jhasaketan Meher, Vinay R Pandit, M S Nithin, S Hari Prasad, Najiya Nageeb, Saurab Kumar Patel, Mallika Kapur; AIIMS, Raipur, Chhattishgarh, India

Background: Systemic lupus erythematosus (SLE) is a multisystemic autoimmune connective tissue disorder with manifestations varying from mild mucocutaneous lesions to life-threatening internal organ involvement. Here we report a case of SLE with involvement of the nervous system and cardiovascular system, complicated by infection.

Case: A 17 year male SLE patient who's non-compliant with medication presented with low-grade fever, polyarthritis, cough for 20 days, and one episode of seizure, altered mentation for 1 day. Subsequently, he developed respiratory distress, requiring ventilator and inotropic support. High-dose steroids, hydroxychloroquine and broad-spectrum antibiotics were started considering CNS lupus with infection. Blood investigation revealed pancytopenia (Hb-6.6 g/dl TLC-3433/cumm, platelet-75000/μL), CRP-14.3 mg/dl, ESR-03 mm in 1st hour with normal renal and liver parameters. Immunological profile: positive ANA (+4, nuclear fine speckled), positive Ds DNA (48 IU/ml), + ribosomal protein, low C3 & C4 (18.23 mg/dl, <4 mg/dl). Chest X-ray revealed opacities over both lung fields. Echocardiography showed global hypokinesia (EF-25%). MRI brain revealed ischemic changes in the bilateral periventricular area. During hospitalisation, he developed multiple episodes of bloodstream infection and pneumonia (MRSA, Klebsiella, Pseudomonas) which were managed with appropriate antibiotics. Following extubation, he developed psychosis and areflexic flaccid quadriparesis. Nerve conduction study revealed demyelination of motor nerves (AIDP). CSF analysis showed only mild elevation in protein (61.9 mg/dl). Pulse steroid was given, and later he underwent plasmapheresis. After recovery, he was discharged on steroids, hydroxychloroquine and mycophenolate. On follow-up, he is ambulant without support and has no neurological sequelae.

Discussion: CNS involvement like seizure and psychosis is seen in 1.5-27.8% but prevalence of AIDP in SLE is 0.6-1.7%. Management of SLE with life-threatening internal organ damage is challenging. Infection can complicate the plan of management and increases fatality.
Figure 1: DECT Images

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Conclusion: So, choosing the right drug at the right time to tackle the menace of infection and inflammation in lupus is of utmost importance.


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A series of six cases of cutaneous polyarteritis nodosa

Alpana Parmar; Rheumatology Clinic, Surat, Maharashtra, India

Background: Polyarteritis nodosa (PAN) is a systemic disease, but a variant is limited cutaneous PAN. It uncommon in a rheumatology OPD, considered benign to systemic PAN yet managing can be challenging at times.

Objectives: To study demographic profile of patients of cutaneous PAN.

Methods: Retrospective data was collected. Cases were classified on the basis of biopsy from skin lesions and ACR classification criteria for systemic PAN 1990.

Results: Amongst the 6 patients, 5 were female & 1 male. The age ranged from 18-62 years, mean was 42.8 yrs. The chief presenting symptom was chronic in all & nonhealing leg ulcer/s [Figure 2] in four patients, multiple painful erythema nodosum (EN) in legs in one and Painful Superficial Thrombophlebitis of all extremities in one. The duration of presenting symptoms ranged from 3-24 months, mean being 14.5 months. All patients had ulcer sites of feet and/ or lower leg near ankle. Number of ulcers at the time of presentation were three in 1 patient, two in 3 patients and one in 1 patient. At the time of initial presentation, anemia was present in 5 patients, leukocytosis in 4, ESR and C-reactive protein were elevated in 5 patients. Diagnosis was based on deep skin biopsy from in all patients consistent with the histologic findings of mixed-cell inflammatory infiltrates in the vessel wall and fibrinoid necrosis and absence of granulomas and giant cells. Screening for viral infection was negative in all. Extra cutaneous symptoms observed over follow up were Inflammatory arthritis of bilateral ankle joints in 3 and wrist joint in 1 patient & peripheral neuropathy of lower limbs in 5. Initial treatment was high dose corticosteroids with cyclophosphamide pulses in 4, mycophenolate mofetil in 1 and methotrexate in 1. Maintenance treatment was with methotrexate in 3, methotrexate with tacrolimus in 2, azathioprine in 1. Over a follow up of 5 years, relapse was seen in 5 patients, the mean number of relapses were 2. The relapses were treatment with cyclophosphamide in 2, Anti TNF inhibitors in 3. Two patients were treated with skin grafting for chronic large leg ulcers. Steroid free remission was achieved in 2 patients, they are on methotrexate as maintenance treatment. 2 patients were treated with tofacitinib, but failed to respond and were then treated with anti TNF inhibitors to which they responded [Figure 1].

Conclusion: Cutaneous PAN commonly presents as nonhealing ulcers and EN. Extracutaneous features of peripheral neuropathy and arthritis are common, other systemic features (constitution and GI) were not seen. Cutaneous PAN is treatment responsive to steroids with immunosuppressants. Relapses are common, Anti TNF inhibitors are useful in treating relapses. Skin grafting is useful in large ulcers with delayed response to immunosuppressant.


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Diagnostic dilemma – Infection in an immunosuppressed patient versus lupus flare

Neel Patel1, Kaushik Bhojani1, Harmansingh Thind1,2, Riya Waghale2; Fortis Hospital, Mumbai, Maharashtra, India

Case Report: Here we present a 22 years old female, a diagnosed case of mixed connective tissue disease 4 years back, onset of disease with impeding gangrene, Raynaud's, positive ANA and Sm-RNP antibodies. Patient was treated with MPS pulses followed by HCQs, steroids, mycophenolate mofetil and has been stable on subsequent follow ups. 4 months back she presented with migratory arthritis, minimal dry cough without fever. On systemic examination absent sounds in left lower zone of lung and occasional crepitations were noted hence chest x-ray was advised. X-ray showed massive pleural effusion, patient was admitted. USG thorax showed multi-loculated pleural effusion, diagnostic pleural tapping performed with difficulty due to loculated nature of effusion and culture growth was negative. USG abdomen showed moderate ascites. Nephrotic range proteinuria and complements levels in lower normal range. As CRP and procalcitonin levels were high patient was started on broad spectrum injectable antibiotics. As clinical picture was not improving as expected, patient underwent VATS with decortication. No culture growth of organism noted in blood, urine or tissue samples, tests for Tb negative, while persistent proteinuria, anemia and elevated CRP continued. hypoalbuminemia correction was given and antiproteinuric agents added despite no improvement in clinical picture hence patient was given pulsed with MPS for 3 days followed by cyclophosphamide pulses. Patient improved significantly within 3-4 days and discharged.

Discussion: Patients with SLE are highly susceptible to infections due to the combined effects of their immunosuppressive therapy and the abnormalities of the immune system that the disease itself causes, which can increase mortality in these patients. The differentiation of SLE activity and infection in a febrile patient with SLE is extremely difficult.
Figure 1: Ulcer healing post grafting + immunosuppressants

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Figure 2: Active leg ulcer

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Conclusion: In such scenario a good predictor marker with high specificity and sensitivity for determining whether the patient is presenting an infection or an SLE flare is required.


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Immune related adverse events (ir-AEs) post immune checkpoint inhibitor (ICI) therapy

S Kadam, S Yadav, C Balakrishnan, S Baliga, P Patil, A Patankar, G Sachdev; PD Hinduja National Hospital and Medical Research Centre, Mumbai, Maharashtra, India

Introduction: ICI are new anti-cancer medications that act at the interface between immunology and malignancy can cause various ir-AEs. We present our experience with 2 such patients.

Patient 1: A 58-year-old woman had pulmonary sarcoidosis in 1986. In 2008 when she was adequately treated for seropositive rheumatoid arthritis (RA), with methotrexate (MTX) and sulphasalazine (SSZ) and achieved remission. In December 2020, she developed persistent dry cough and diagnosed to have adenocarcinoma lung (cT1N2M0). After initial chemotherapy she was maintained on Durvalumab. Two weeks later she developed symmetrical polyarthritis. Durvalumab was stopped, and she was treated with steroids, MTX (15 mg/week), and SSZ (1 gram/day). After 6 weeks, she achieved remission again and Durvalumab was restarted. 3 months after restarting ICI, she developed acute follicular conjunctivitis, fever, dry cough and a chest lesion. CT-guided biopsy of the lesion showed a bland necrotizing granuloma. Serum ACE levels were 84 IU/L (8-65). Necrotizing sarcoid was diagnosed, ICI was stopped temporarily and she was treated with steroids, parenteral MTX (15 mg/week), and SSZ (1 gm/day). A month later, on treatment, she was asymptomatic.

Patient 2: A 57 years old man was adequately treated for psoriatic arthritis, 25 years ago. In 2022, he developed a persistent dry cough, and a chest lesion. CT-guided biopsy confirmed squamous cell carcinoma. The patient received chemotherapy, radiotherapy and then 2 weekly Durvalumab maintenance. After the 3rd cycle, both arthritis and psoriasis relapsed. This was treated with a tapering dose of steroid, weekly MTX (15 mg/week) and topical treatment. ICI was stopped for 6 weeks till the control of arthritis was achieved.

Discussion: Both patients had a flare-up of a pre-existing immunological conditions after Durvalumab. As per the protocols, ICI therapy was stopped and the ir-AE's were treated appropriately with benefit. Rheumatologists need to be aware these ir-AE's.


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Not just skin deep – Interesting cases of panniculitis

Vaijayanti Lagu Joshi, Smita Upadhye, Dhanashree Bhide; Deenanath Mangeshkar Hospital, Pune, Maharashtra, India

Background: Panniculitis is a dynamic inflammatory condition of subcutaneous fat with diverse etiologies from infections, auto-immune inflammatory conditions like RA, collagen disease to vasculitis and malignancies. It is challenging to establish a specific diagnosis which needs systemic evaluation outside subcutis. We present 3 cases of panniculitis – one with RA, one with lupus panniculitis and one idiopathic.

Case 1: 50-year-old lady with seropositive RA since 10 yrs. She is on regular DMARDs but shows intermittent flares of disease activity. She developed elbow nodules since last 2 years. Biopsy was suggestive of panniculitis. Rheumatoid nodules respond well to addition of steroids but show waxing and waning.

Case 2: 20-year-old girl diagnosed with chronic cutaneous lupus for 5 years presented with lupus panniculitis on face and upper arms. It showed a resistant course despite use of local/systemic steroids and Rituximab. She has landed up with permanent disfigurement.

Case 3: 46 year old lady with no comorbid illness shows recurring panniculitis all over body since 2016 with all active inflammatory signs and raised ESR, CRP but all negative immunological tests. HRCT chest, PET was noncontributory. She shows a good response to steroids and azathioprine but no etiology has been established yet and shows intermittent relapses when she stops medication.

Conclusion: Panniculitis is a challenging area for Rheumatologists. It is inflammatory, shows waxing and waning courses that need steroids and immune-suppressants. The underlying rheumatological conditions need to be controlled well. Panniculitis causes significant morbidity due to cosmetic disfigurement. The literature shows a lack of controlled trials and validated outcomes for panniculitis.


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Anti-synthetase syndrome and TB myositis with macrophage activation syndrome

Aakash Kumar Singh, Sanjay Jain, Aman Sharma, Varun Dhir, Shefali Khanna, Shankar Naidu, Siddharth Jain; Department of Internal Medicine, Clinical Immunology and Rheumatology Wing, PGIMER, Chandigarh, India

47-year-old male, symptomatic for 15 days with pain and swelling of right thigh, fever and shortness of breath.

Background: History of Raynaud's phenomenon, inflammatory polyarthritis, oral and ocular sicca symptoms, fever and ILD for last 3 years, on treatment with Azathioprine. O/E Febrile, Synovitis, Bilateral Velcro crepitation's, proximal muscle weakness of right thigh, hepatosplenomegly. Investigation ESR-114, CRP-244, Hemoglobin-7.7 g/dL, TLC - 2900, Platelets-1.09 lakh. LFT, RFT and urine routine was normal. ANA 4+, Cytoplasmic, Ro 52 4+, PL7 3+, CK 264, Ferritin-10973, TG-297, Ultrasound Right thigh- Hypoechoic 4.6*1.2 cm collection, MRI- Right thigh myositis, 8 mm thick fluid collection, CT s/o NSIP ILD, FVC-45%, FNAC - degenerating inflammatory cells in the background of fat mixed necrosis. ZN stain positive for AFB. Procalcitonin 16.8, 1.18. (ng/ml) Patient was started on 1st line Anti tubercular therapy (ATT) and developed transaminitis hence modified ATT was given. Rifampicin and Isoniazid was reintroduced after the transaminitis settled. 14 days of broad-spectrum antibiotics was given. Immunosuppression in form of full dose IVIG was given initially. After completing 6 months of ATT, Rituximab 1 g *2 doses was given 15 days apart and was planned on rituximab 500 mg every 6 months. ATT was continued along with 10 mg steroids.

Discussion: As patient had unilateral involvement infection was considered and he was started on ATT after microbiological diagnosis. 2 weeks of antibiotics was also given as bacterial pyomyositis was suspected and procalcitonin was elevated. As fever was persisting despite 3 weeks of ATT and antibiotics, along with new onset cytopenias and elevated ferritin, triglycerides a possibility of Macrophage activation syndrome (MAS) was considered and as there was concurrent infection full dose IVIG was given after which the fever completely resolved. On follow up Rituximab induction and maintenance was planned for disease relapse.

Conclusion: Rare presentation of TB in Anti Synthetase Syndrome with concurrent MAS.


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Rare presentation of ankylosing spondylosis: Temporomandibular joint ankylosis in ankylosing spondylitis

Rajhans, Madhukar Rai, Ranjan Bhatnagar, Jaya chakravorty, Manaswi Chaubey, Akhilendra Chaudhary, Tamanna Singh, Somil Singh; Department of General Medicine, Banaras Hindu University, Varanasi, Uttar Pradesh, India

Introduction: Ankylosing spondylitis (AS) is a chronic inflammatory disorder which primarily effects axial skeleton, although peripheral joint involvement can also occur. Temporomandibular (TM) involvement in AS ranges from 4% to 35%. Involvement of temporomandibular joint (TMJ) causes pain restrictive movement of joint that cause inability to eat.

Case Report: A 27-year-old female, follow up case of AS diagnosed 6 years back on regular treatment with sulfasalazine, reported to medicine outpatient department with history of restricted movement of mouth opening and morning stiffness of jaw for 6 months which was associated with pain and morning stiffness. There is no h/o any other peripheral joint involvement. There is no history of trauma or infection of the TMJ. There was no neurological deficit. Vertical mouth opening was 8 mm and TMJ tenderness was present. Investigations showed ESR 42 mm, C-reactive protein 40 and positive human leukocyte antigen-B27. MRI B/L sacroiliac joints showed complete obliteration of B/L sacroiliac joint spaces suggestive of bony ankylosis. CT image of TMJ revealed complete bony ankylosis of the B/L TMJ. Diagnosis of AS with TMJ involvement was made and the patient was treated by a combination of conservative techniques that include rest, exercises for painful joint, and pharmacological treatment with sulfasalazine 1 g twice daily and indomethacin 75 mg daily. Her clinical signs and symptoms did not improve after 3 months of treatment. The patient was advised for surgery of TMJ as she was unable to open her mouth and couldn't eat any solid food. Plastic surgery reference was taken and we refer the patient for surgey.

Discussion: TMJ is the most important joint for mastication. Its involvement in any disease leads to increased morbidity. TMJ is commonly involved in rheumatoid arthritis. Although uncommon, it can be involved in AS also.

Conclusion: TMJ involvement in arthritis is more patients with rheumatoid arthritis. However, patients with AS can also have TMJ involvement. Clinicians should examine the TMJ as well while examining a patient of AS.


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Hereditary angioedema due to SERPING1 mutation presenting with abdominal pain – A case report

Veena Viswanath, B G Dharmanand; Manipal Hospitals, Bengaluru, Karnataka, India

Hereditary angioedema (HAE) is a rare autosomal dominant disorder characterized by recurrent episodes of angioedema involving the skin, gastrointestinal and upper respiratory system caused by deficiency or dysfunction of C1-inhibitor, due to a mutation in serpin family G member (SERPING1) gene, which encodes the serine protease C1-inhibitor.

Case Summary: 28-year-old lady presented with 15-year history of recurrent episodes of abdominal pain with nausea and vomiting every 3 - 4 months that settled with supportive measures within 48 to 72 hours. Since pregnancy, 2 years back, frequency of episodes increased and was associated with transient lacy erythematous non-urticarial rash on the extremities and abdomen and angioedema of the lips. There was no fever, musculoskeletal, ocular or neurologic symptoms. She was completely symptom free between episodes. Investigations over the years revealed normal colonoscopy, enteroscopy and esophagoduodenoscopy, bowel wall and mesenteric thickening on abdominal imaging and recurrent mild exudative ascites. Tests for tuberculosis, malignancy, ANA, porphobilinogen, lead levels and MEFV mutation were negative, Serum C4 and C1 esterase inhibitor levels were low. The patient's mother aged 58, with rheumatoid arthritis, developed recurrent episodes of facial angioedema over the past 3 years, with no gastrointestinal symptoms. Whole exome sequencing revealed a known frameshift mutation in the exon 7 of the SERPING1 in heterozygous state in both patients suggesting the diagnosis of SERPING1 related disease, HAE Type 1. Both patients were initiated on danazol and are well with significant reduction in the frequency and severity of episodes. The difficulty in recognizing gastrointestinal symptoms as being intestinal angioedema related to HAE, especially in the absence of subcutaneous angioedema, often leads to a delay in diagnosis and treatment. HAE may be considered in the differential diagnosis of undiagnosed recurrent gastrointestinal symptoms. Discovery of genetic diagnosis is likely to bring new therapeutic options in the management of HAE.


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A novel CARMIL-2 mutation associated with immunodeficiency mimicking hyper IgE syndrome

Anuj Shukla; Niruj Rheumatology Clinic, Ahmedabad, Gujarat, India

Background: Recent studies have reported the association of CARMIL-2 mutation with Combined immunodeficiency. The loss of function mutation is supposed to affect the CD28-dependent co-stimulation in T-cells and cytoskeletal dynamics of lymphocytes. First reported in 2016, 40 such cases have been reported so far.

Case History: A 19-year-old boy presented with a history of allergic skin rash, allergic asthma, recurrent Staphylococcus aureus skin infections in the form of boils, furuncles and abscesses, oral thrush, stomatitis, fungal nail infection [Figure 1], recurrent episodes of fever and leukocytosis due to upper and lower respiratory tract infections. There was a recent episode of eosinophilic esophagitis with stricture requiring endoscopic dilatations. Symptoms started as early as one month of age with skin rash. Other symptoms started over the years, used to wax and wane, and gradually faded. Currently papulosquamous reddish skin rash with nail hyperkeratosis is the troubling symptom. Based on these symptoms Hyper IgE syndrome was suspected which were supported by raised serum IgE levels, low Th17 cells, and memory B cells; but phosphorylation of STAT3 was normal and no mutation was found on Stat-3 and Dock8 gene. Later PID targeted next-generation sequencing was done. A novel homozygous mutation on exon-18 of CARMIL-2 gene. This is a frameshift mutation c:1652_1653del (p.his551argfster40). This mutation has not been reported in the literature but is likely to be pathogenic. As it leads to the early termination and generates truncated protein.
Figure 1: (a and b) Skin and nail lesions

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Discussion: Patients with defects in CARMIL-2 gene are presented with eczematic lesions, skin abscesses, early onset IBD, and esophagitis. The clinical features and lab profile can mimic Hyper IgE syndrome and even Psoriasis, as patients with psoriasis are also reported to have low expression of CARMIL-2 gene.

Conclusion: Thus, while evaluating hyper IgE syndrome and juvenile psoriasis, CARMIL-2-associated primary immunodeficiency 58 should be kept in mind.


  CAS362 Top


Tropical pyomyositis in immunocompetent hosts posing diagnostic challenges: A case series

Anuj Singhal, K K Kompella, I P Dubey, Sohil Khan, Kirti Mahanan, Abhilash Singh

Background: Pyomyositis is an acute bacterial infection of skeletal muscle, which results in localized abscess formation. Diagnosis in such cases can be delayed because the affected muscle is deeply situated, and local signs are not apparent which led to diagnose it as inflammatory pyomyositis. However inflammatory pyomyositis is very rare in comparison of tropical myositis.

Case Presentation: In last one year four such interesting cases were admitted to this tertiary care hospital with different clinical presentations. In this series, the cases described were of four previously healthy immunocompetent persons who were admitted to different smaller hospitals with varied clinical presentations including muscle and joint pain with fever. All four patients were transferred to bigger hospital due to diagnostic dilemma of inflammatory myositis. After thoroughly workup with help of CT scan, MRI, and PET scan they were diagnosed with pyomyositis. Therapy was started with antibiotics and subsequently changed as per culture reports. The minimum length of therapy was 3 weeks and maximum of length was 8 weeks for complete recovery.

Conclusions: Pyomyositis in this series was related to factors affecting the muscle with no significant strenuous exercise or direct muscle trauma. The visual assessment of FDG uptake enabled to comprehensively evaluate skeletal muscle. The initial therapy consisting of cephalosporin and teicoplanin was found effective. The minimum length of in hospital treatment was four weeks. This series reinforces that tropical pyomyositis is not an exclusive pathology of immunocompromised persons. Pyomyositis need to be kept it in differential before coming to conclusion of inflammatory myositis.


  CAS363: Top


Lupus and Crohn's disease: a sinister combination

Prachi Patil, Rheumatologist, Ojas Arthritis and Rheumatology Center Nashik, Maharashtra

Introduction: Although it has been known that many autoimmune disorders coexist, yet, coexistence of systemic lupus erythematosus (SLE) and inflammatory bowel disease has rarely been reported. Here we report such a rare association.

Case: Mrs AB, 34 yr lady had fever and arthralgia last year when she was diagnosed to have Systemic Lupus Erythematosus (SLE). Antinuclear antibodies (ANA) were detected by immunofluorescence. Treatment was started with Hydroxychloroquine 200mg and mycophenolate sodium 740mg daily along with low dose glucocorticoids. With this she achieved remission. She stopped her treatment after 6 months as her symptoms resolved. After 3 months, she again had low grade fever and arthralgia. She also had vague abdominal pain which was diffuse in nature. She received intravenous glucocorticoid pulsed doses. With this she got better and discharged from hospital in 3 days with advice to restart previous treatment. After two weeks, she was re-admitted with bloody diarrhea and abdominal pain. Sigmoidoscopy was performed which suggested features compatible with Crohn's disease. Biopsy was sent and it was also suggestive of crohn's disease. Dose of glucocorticoids was hiked up to 1mg/kg equivalent of prednisolone. After a gap of 4 days, she had constipation and acute abdominal pain. Computed tomography (CT) scan revealed toxic megacolon with perforation. Laparotomy was performed soon after the scan to seal the perforation. She developed fecal peritonitis and had severe sepsis. Despite best efforts and broad-spectrum antimicrobial drugs she succumbed to her illness.

Discussion and conclusion: Through this report we highlight association between entirely different autoimmune diseases together. In most of the cases previously the flare of Crohn's was not associated with SLE disease activity but in this case both seem to have flared simultaneously.


  POS069 Top


Outcomes of neuropsychiatric lupus – A prospective cohort study from a tertiary care centre

Prathyusha Manikuppam1, John Mathew1, Suja Kurian2, Aiswarya R Nair2; 1Department of Clinical Immunology and Rheumatology, CMC, Vellore, 2Department of Psychiatry Christian medical college, Vellore

Background: There are no well-designed studies addressing the optimum steroid sparing agent in NPSLE.

Objective: To assess the clinical response of steroid sparing agents in NPSLE at 6 months

Methods: This was a single center prospective cohort study. All patients fulfilling the ACR classification criteria for NPSLE were recruited from the outpatient and inpatient department of rheumatology over 2 years. Patients with Antiphospholipid syndrome were excluded. Steroid sparing agent (Mycophenolate mofetil/ Cyclophosphamide/ Rituximab) was initiated as per the treating physician's discretion. Neuropsychiatric inventory (NPI) and Addenbrooke's cognitive examination(ACE) scores along with Mini mental state examination were calculated for patients with psychiatric involvement and cognitive dysfunction at baseline and at follow up. Response was taken as improvement in the clinical symptoms and NPI scores at 6 months compared to baseline.

Results: 35 patients have been recruited in the study. 32/35 (91%) patients were women. Mean SLEDAI at baseline was 18.5±7.4. Clinical spectrum of NPSLE has been summarized in [Figure 1]. MMF was started in 23 patients and 10 patients were started on cyclophosphamide as the steroid sparing agent. 1 patient was given Rituximab and 1 patient was started on IVIG in view of concurrent infection.8 patients were lost to follow up. Barring 1 patient in each arm, all patients had clinical improvement. All patients with psychiatric manifestations had improvement in ACE and NPI scores at 6 months.
Figure 1: Clinical spectrum of neuropsychiatric manifestations

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Conclusion: Both cyclophosphamide and mycophenolate were effective steroid sparing agents in neuropsychiatric lupus.




    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10], [Figure 11], [Figure 12], [Figure 13], [Figure 14], [Figure 15], [Figure 16], [Figure 17], [Figure 18], [Figure 19], [Figure 20], [Figure 21], [Figure 22], [Figure 23], [Figure 24], [Figure 25], [Figure 26], [Figure 27], [Figure 28], [Figure 29], [Figure 30], [Figure 31], [Figure 32], [Figure 33], [Figure 34], [Figure 35], [Figure 36], [Figure 37], [Figure 38], [Figure 39], [Figure 40], [Figure 41], [Figure 42], [Figure 43], [Figure 44], [Figure 45], [Figure 46], [Figure 47], [Figure 48], [Figure 49], [Figure 50], [Figure 51], [Figure 52], [Figure 53], [Figure 54], [Figure 55], [Figure 56], [Figure 57], [Figure 58], [Figure 59], [Figure 60], [Figure 61], [Figure 62], [Figure 63], [Figure 64], [Figure 65], [Figure 66], [Figure 67], [Figure 68], [Figure 69], [Figure 70], [Figure 71], [Figure 72], [Figure 73], [Figure 74], [Figure 75], [Figure 76], [Figure 77], [Figure 78], [Figure 79], [Figure 80]
 
 
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  [Table 1], [Table 2], [Table 3], [Table 4], [Table 5], [Table 6], [Table 7], [Table 8], [Table 9], [Table 10], [Table 11], [Table 12], [Table 13], [Table 14], [Table 15], [Table 16], [Table 17], [Table 18]



 

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