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CASES
Year : 2022 | Volume
: 17
| Issue : 5 | Page : 204-278
Cases
Date of Web Publication26-Nov-2022
Correspondence Address:
Source of Support: None, Conflict of Interest: None
CheckDOI: 10.4103/0973-3698.362014
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.
CAS239Curious 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.
CAS240Pyrexia 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.
CAS242Adult-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.
CAS243Melioidotic 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.
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.
CAS244Cutaneous 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.
CAS245PUO: 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.
CAS247Focal 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.
CAS248Acute 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 2: Focus score of lymphocytic aggregation in minor salivary gland biopsy CAS249 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.
CAS250PUO: 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.
CAS251Mandibuloacral 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.
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.
CAS252Levamisole 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.
Table 1: Improvement in all 3 cell lines, erythrocyte sedimentation rate normalized, direct coombs test turned negativeDiscussion: 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.
CAS253Juvenile 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])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 positivityConclusion: 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.
CAS254An 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.
CAS255Autologous 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.
CAS256An 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].
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.
CAS257Parkinsonism 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.
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.
CAS258Rowell 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.
CAS259A 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.
CAS260Case 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.
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.
CAS261Lupus 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
Figure 2: Bullous fluid filled skin lesions diagnosed as linear IgG/IgA diseaseConclusion: 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.
CAS262Rheumatoid 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 an
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