Publications

Cystic echinococcosis (CE) caused by Echinococcus granulosus presents a significant public health concern globally, with varied clinical presentations ranging from asymptomatic to life-threatening complications. We report a case of a 58-year-old female with extensive hydatid disease involving multiple cysts in the abdominal, pelvic, and pericardial cavities, resulting in substantial morbidity. Despite the complexity of the case and the therapeutic dilemma it posed, a tailored management approach combining medical therapy with either surgical intervention or minimally invasive procedures was employed. This case highlights the challenges in managing advanced CE infections and underscores the importance of individualized treatment strategies guided by a comprehensive understanding of the disease and its potential complications.

BACKGROUND: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune neuroinflammatory disorder. While it typically presents as optic neuritis, myelitis, or acute disseminated encephalomyelitis (ADEM), its manifestation as pyrexia of unknown origin (PUO) with subsequent meningitis is extremely rare.

CASE DESCRIPTION: We report a 17-year-old male who presented with persistent fever and headache, without focal neurological deficits. Extensive infectious workup was inconclusive. Cerebrospinal fluid (CSF) analysis revealed mild pleocytosis, and empirical antibiotics were initiated without clinical improvement. A repeat CSF analysis demonstrated worsening pleocytosis, prompting an expanded autoimmune and neuroinflammatory panel. MOG-IgG antibodies were detected in both serum and CSF, confirming the diagnosis of MOGAD. The patient responded well to high-dose corticosteroids followed by mycophenolate mofetil for maintenance therapy.

CONCLUSION: This case highlights the importance of considering MOGAD in patients with unexplained fever and headache with inflammatory CSF. Early recognition and prompt immunotherapy initiation are essential for optimal outcomes. A favorable outcome was observed following timely immunotherapy.

INTRODUCTION: Immunoglobulin G4-related disease (IgG4-RD) is a rare autoimmune fibroinflammatory condition that can affect multiple organs. Central nervous system (CNS) involvement is seen in only 2-4% of cases. Due to its rarity and heterogeneous presentation, it often mimics malignancies, infections, or other inflammatory conditions, leading to delayed diagnosis. We report two cases illustrating the spectrum of CNS IgG4-RD and highlight diagnostic and therapeutic considerations. Case 1: A 29-year-old male presented with new-onset generalized tonic-clonic seizures. Brain magnetic resonance imaging (MRI) revealed a left-sided, extra-axial dural-based enhancing lesion with vasogenic edema. Serum IgG4 was elevated (3.25 gm/dL), but whole body positron emission tomography-computed tomography (PET-CT) ruled out systemic involvement. Surgical resection of the lesion was performed. Histopathology revealed a lymphoplasmacytic infiltrate with fibrosis and an IgG4:IgG plasma cell ratio of 20%. The patient was treated with tapering corticosteroids and methotrexate, leading to complete radiological resolution and seizure control. Case 2: A 44-year-old woman with longstanding hypothyroidism presented with headache, tinnitus, polydipsia, and polyuria. Laboratory investigations revealed panhypopituitarism. Imaging revealed an enlarged pituitary with systemic fluorodeoxyglucose (FDG)-avid lesions on PET-CT. Serum IgG4 was elevated (3.01 gm/L). A diagnosis of probable IgG4-related hypophysitis with multisystem involvement was made. She was managed with pulse methylprednisolone followed by oral steroids, methotrexate, and desmopressin. Follow-up showed clinical and radiological improvement, and serum IgG4 levels normalized.

DISCUSSION: These cases demonstrate the clinical heterogeneity of CNS IgG4-RD, ranging from isolated pachymeningitis mimicking neoplasia to multisystem hypophysitis with systemic uptake. While the 2020 diagnostic criteria emphasize an IgG4:IgG ratio ≥40%, case 1 underscores that lower ratios (e.g., 20%) may still be diagnostically relevant, particularly in meningeal disease. Both patients responded well to corticosteroids and methotrexate, supporting their role as effective first-line treatment. These cases add to the growing evidence base for CNS-specific IgG4-RD and emphasize the need for organ-specific diagnostic flexibility and long-term immunosuppressive strategies.

Multisystem inflammatory syndrome in adults (MIS-A) is a postacute hyperinflammatory condition associated with prior SARS-CoV-2 infection. While predominantly reported in children (MIS-C), MIS-A is increasingly recognized in adults and is characterized by multiorgan dysfunction, elevated inflammatory markers, and evidence of recent COVID-19. Timely diagnosis remains challenging due to clinical overlap with other infectious and inflammatory conditions. We report a case of a 36-year-old previously healthy male from Bihar, India, who presented with severe epigastric pain, progressive dyspnea, and systemic symptoms. Clinical examination revealed tachypnea, hypotension, pedal edema, ascites, and hemorrhagic rashes over the abdomen. Laboratory evaluation showed leukocytosis, thrombocytopenia, acute kidney injury, transaminitis, coagulopathy, markedly elevated inflammatory markers, and cardiac biomarkers. Chest imaging revealed bilateral subpleural opacities and mild pleural effusions, indicating pulmonary involvement. Despite a negative SARS-CoV-2 RT-PCR result, high antibody titers confirmed a recent COVID-19 infection. Imaging of the abdomen confirmed acute interstitial edematous pancreatitis. Extensive evaluation excluded tropical, autoimmune, and other infectious etiologies. The present case was managed with high-dose corticosteroids, vasopressors, mechanical ventilation, anticoagulation, and supportive therapy. He showed gradual improvement and was discharged after 6 weeks. MIS-A should be considered in patients with recent SARS-CoV-2 exposure presenting with systemic inflammation, including respiratory and extrapulmonary organ dysfunction. Early recognition and immunomodulatory therapy are essential for favorable outcomes.

Human immunodeficiency virus (HIV)-negative acquired adult immunodeficiency diseases are rare and relatively difficult to diagnose and treat. Good's syndrome is one such rare immunodeficiency syndrome occurring in middle to late adulthood. It is an association of combined B-cell and T-cell immunodeficiency along with hypogammaglobulinemia with a background of thymoma. Here, we describe a case of a 57-year-old male who presented to us with recurrent streptococcal pneumonia. He had a past history of an operated thymoma, cytomegalovirus retinitis, and pure red cell aplasia (PRCA). Evaluation revealed hypogammaglobulinemia along with CD4+ T-cell and B-cell lymphopenia, thus indicating Good's syndrome. Our case highlights the importance of including Good's syndrome in the differential diagnosis of HIV-negative, acquired, adult immunodeficiency and elucidates the general principles of management of this rare clinical entity.

The kidneys are frequently affected by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), which comprises renal-restricted vasculitis, eosinophilic granulomatosis with polyangiitis (EGPA), microscopic polyangiitis (MPA), and granulomatosis with polyangiitis (GPA). The most prevalent kidney disease is glomerulonephritis. On direct immunofluorescence (DIF), they show an absence of any immune complex deposition and hence are regarded as "pauci-immune glomerulonephritis" (PIGN). Around 10-40% of AAV are ANCA negative (seronegative PIGN). They tend to show a more limited disease, fewer extra-renal manifestations, and a lower overall Birmingham Vasculitis Activity Score (BVAS). In the absence of ANCA positivity in blood, a consistent clinical picture supported by tissue diagnosis is the only tool to diagnose such cases. Here we present a case of a 58-year-old male who presented with a history of prolonged fever, hematuria, and generalized palpable purpura all over the body. His blood for ANCA was negative. After a kidney biopsy, he was finally diagnosed with ANCA-negative pauci-immune vasculitis and was treated with rituximab.

We describe a case of a 32-year-old nondiabetic lady who presented to our hospital with episodes of recurrent hypoglycemia. Investigations revealed suppressed insulin-like growth factor-1 (IGF-1) and elevated IGF-2 to IGF-1 ratio in the absence of hyperinsulinemia, which favored a diagnosis of nonislet cell tumor hypoglycemia (NICTH). Imaging revealed multiple lesions in the liver and a mesenteric nodal mass. Liver biopsy was suggestive of metastatic well-differentiated neuroendocrine tumor (NET) [World Health Organization (WHO) grade 3]. Our patient had a fairly aggressive progression of disease. She was given chemotherapy for the tumor, but the anatomic site of the primary malignancy could not be determined despite extensive imaging and diagnostic workup. This case highlights NICTH, which is a rarely encountered but life-threatening cause of hypoglycemia, and underlines the importance of tumor localization for effective treatment.

Hypertrophic osteoarthropathy (HOA), also known as pachydermoperiostosis is an unusual cause of digital clubbing. It is a rare osteo-arthro-dermopathic syndrome which is associated with clubbing of fingers, thickening of skin in the face and scalp, seborrhea, and subperiosteal new bone genesis. It is divided into two types: Primary (PHOA) and secondary HOA, with the latter being common. PHOA accounts for a very meager portion of HOA cases. PHOA is usually inherited in an autosomal dominant fashion and rarely follows autosomal recessive inheritance pattern. We report a case of a male who presented with a history of progressive and painful enlargement of distal phalanges of hands and feet for 6 years. After all examinations and tests ruled out the secondary causes for HOA, genetic sequencing was performed to confirm the diagnosis of PHOA. Sequencing revealed homozygous nonsense mutation in SLCO2A1 gene. This mutation is postulated to impair the degradation of prostaglandin E2 (PGE2), leading to its elevated levels. PHOA is an atypical cause of clubbing which usually poses a challenge in diagnosis. This report also underscores the importance of genetic sequencing in appropriate diagnosis and management of the PHOA.

Erasmus syndrome is a rare clinical syndrome characterized by the development of systemic sclerosis (SSc) following chronic exposure to silica; however, the presence of silicosis is not a prerequisite for this diagnosis. It is infrequently reported in the literature, and recognizing the association between occupational silica exposure and SSc is crucial for timely diagnosis and management in workplace settings. We report a case of Erasmus syndrome in a stone cutter in his late 30s, who presented with gangrene in both feet, Raynaud's phenomenon, without any evidence of other organ involvement. Anti-Scl-70 antibody was positive on the line immunoassay, supporting the diagnosis. The patient was started on a combination therapy including calcium channel blockers, phosphodiesterase 5 inhibitors, and wound care. At 6-month follow-up, he had no further disease progression with stabilization of gangrene.

Hyperthyroidism can sometimes mimic Guillain-Barré syndrome (GBS). Polyneuropathy, paraplegia, and thyrotoxic periodic paralysis presenting as hypokalemia can be the presentation of hyperthyroidism. This case highlights the similar presentation of two clinical conditions that can occur simultaneously, or one of them may precipitate the other. A high index of suspicion is essential for the diagnosis.