J Assoc Physicians India
· 2025 Nov · PMID 41296306
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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...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.
Qureshi MRJ, Mahajan M, Rohatgi V
… +3 more, Gupta P, Adeept J, Priyadarshini P
J Assoc Physicians India
· 2025 Nov · PMID 41296305
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A 54-year-old female presented with recurrent episodes of altered sensorium. The episodes lasted 4-6 minutes with snoring and unresponsiveness, and confusion during resolution. She was found to have recurrent hyponatremi...A 54-year-old female presented with recurrent episodes of altered sensorium. The episodes lasted 4-6 minutes with snoring and unresponsiveness, and confusion during resolution. She was found to have recurrent hyponatremia and hypoglycemia. The hyponatremia was hypo-osmotic with raised urinary sodium excretion managed with hypertonic saline and oral extra salt. Electroencephalogram (EEG) showed epileptiform discharges. The recurrent seizure episodes persisted in spite of antiepileptic drugs. Cerebrospinal fluid (CSF) examination showed: glucose 174.7 mg/dL, protein 60.4 mg/dL, total leukocyte count (TLC) 5. acid-fast bacilli (AFB), Gram stain-no organism, culture sensitivity sterile, Cryptococcus antigen, cobwebbing absent, BioFire CSF meningitis/encephalitis panel was negative. Serum autoimmune encephalitis panel was positive for leucine-rich glioma-inactivated 1 (LGI1) antibody (2+) (titer 1:10). The patient was initially treated with IV immunoglobulin 170 gm over 5 days. The nonconvulsive seizure activity reduced but remained persistent. The patient was further treated for syndrome of inappropriate antidiuretic hormone secretion (SIADH)-induced hyponatremia with fluid restriction and desmopressin. In view of persistent hyponatremia and altered sensorium, and positive autoimmune encephalitis panel, rituximab infusion was given on 2 occasions, 2 weeks apart. The sensorium showed a gradual but significant improvement with cessation of seizure activity and improved activities of daily living. Our patient presented with nonconvulsive seizure activity and persistent hyponatremia and recurrent hypoglycemia. The anti-leucine-rich glioma inactivated 1 (LGI1 antibody) is a rarely found entity first described in 2010. It is associated with electrolyte abnormalities, namely hyponatremia and hypoglycemia. A PubMed search revealed very few cases reported of LGI1 antibody encephalitis in association with nonconvulsive seizure activity. The electrolyte abnormalities associated with the entity make the management difficult. The recommended immunosuppressive regimen consists of IV pulsed steroids, which was precluded in our patient due to poorly controlled diabetes. Inadequate response seen after IVIg infusion prompted further immunosuppression with rituximab. Satisfactory control of the seizure activity was attained after the second rituximab dose.
Siwach K, Singh T, Kumar A
… +2 more, Sarkar D, Gupta N
J Assoc Physicians India
· 2025 Nov · PMID 41296304
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We describe an uncommon instance of a female patient, age 35, with type 1 diabetes mellitus who developed DKA (diabetic ketoacidosis) that was exacerbated by acute pancreatitis and severe hypertriglyceridemia. The patien...We describe an uncommon instance of a female patient, age 35, with type 1 diabetes mellitus who developed DKA (diabetic ketoacidosis) that was exacerbated by acute pancreatitis and severe hypertriglyceridemia. The patient had abdominal pain, vomiting, and biochemical evidence of DKA upon admission. Physical examination was notable for xanthomas, and laboratory tests showed extremely high triglyceride levels and milky plasma. Clinical improvement resulted from the patient receiving IV insulin treatment and lipid-lowering medications. This example emphasizes the significance of early diagnosis and treatment when hypertriglyceridemia-induced pancreatitis complicates DKA.
J Assoc Physicians India
· 2025 Nov · PMID 41296303
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BACKGROUND: Anemia and iron deficiency are frequently observed in patients with heart failure (HF) and are independently linked to adverse outcomes. Although intravenous (IV) iron supplementation is well studied in HF wi...BACKGROUND: Anemia and iron deficiency are frequently observed in patients with heart failure (HF) and are independently linked to adverse outcomes. Although intravenous (IV) iron supplementation is well studied in HF with reduced ejection fraction, its impact on coexisting significant valvular disease remains poorly understood. CASE DESCRIPTION: A 67-year-old female with a known history of coronary artery disease, diabetes, hypertension, hypothyroidism, and chronic kidney disease presented with exertional breathlessness and fatigue. Workup revealed severe anemia (hemoglobin 6.1 gm/dL), reduced left ventricular ejection fraction (LVEF 45%), severe mitral regurgitation (MR), and mild tricuspid regurgitation (TR). She was managed conservatively with IV iron and two units of leukocyte-depleted packed red blood cells (LD PRBCs). Over the next few days, the patient experienced marked clinical improvement. Repeat echocardiography demonstrated normalization of LVEF, downgrading of MR severity from severe to mild, regression of TR, and complete resolution of pericardial effusion. Her hemoglobin improved to 8.0 gm/dL. DISCUSSION: This case underscores the role of severe anemia as a modifiable factor contributing to cardiac dysfunction, including reversible valvular insufficiency and reduced systolic performance. Restoration of hemoglobin levels led to significant clinical and echocardiographic recovery, pointing to anemia as a potential therapeutic target in such cases. The use of IV iron proved beneficial in facilitating this improvement. CONCLUSION: In older patients with multiple comorbidities and new or worsening cardiac dysfunction, severe anemia should be considered a treatable cause. Early diagnosis and targeted therapy using IV iron and transfusion can result in substantial clinical gains and may help avoid unnecessary invasive procedures.
J Assoc Physicians India
· 2025 Nov · PMID 41296302
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The kidneys are frequently affected by antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV), which comprises renal-restricted vasculitis, eosinophilic granulomatosis with polyangiitis (EGPA), microscopi...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.
J Assoc Physicians India
· 2025 Nov · PMID 41296301
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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....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.
Arsiwala FM, Oak J, Tiwari A
… +1 more, Chaturvedi N
J Assoc Physicians India
· 2025 Nov · PMID 41296300
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Systemic amyloid light chain (AL) amyloidosis is a rare but potentially fatal disorder caused by deposition of misfolded immunoglobulin light chains, often presenting with vague, nonspecific symptoms that delay diagnosis...Systemic amyloid light chain (AL) amyloidosis is a rare but potentially fatal disorder caused by deposition of misfolded immunoglobulin light chains, often presenting with vague, nonspecific symptoms that delay diagnosis. We report a diagnostically striking case of a 65-year-old male presenting with progressive tongue enlargement, periorbital purpura, submandibular swelling, and a prior history of carpal tunnel syndrome-classic yet under-recognized features of AL amyloidosis. Despite negative urine immunofixation and Bence-Jones proteinuria, the markedly elevated free lambda light chains and an abnormal kappa/lambda ratio raised clinical suspicion. Bone marrow biopsy revealed 25% plasma cells with lambda restriction and t(11;14) translocation, confirming AL amyloidosis associated with plasma cell myeloma. Treatment with a daratumumab-, bortezomib-, and dexamethasone-based regimen led to dramatic clinical improvement. This case emphasizes the importance of recognizing subtle external manifestations as early diagnostic clues in AL amyloidosis, especially in the absence of classical laboratory markers. Timely recognition can significantly improve outcomes in a condition where therapeutic delay can be devastating.
J Assoc Physicians India
· 2025 Nov · PMID 41296299
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Cystic lung disease is a rare and underrecognized manifestation of pulmonary tuberculosis (TB), often masquerading as other diffuse cystic lung disorders and complicating timely diagnosis. We present the unusual case of...Cystic lung disease is a rare and underrecognized manifestation of pulmonary tuberculosis (TB), often masquerading as other diffuse cystic lung disorders and complicating timely diagnosis. We present the unusual case of a 25-year-old woman who developed progressive dyspnea and pleuritic chest pain shortly after initiating antituberculous therapy. Initial imaging revealed classical miliary nodules without cystic changes. However, within a month of treatment, follow-up high-resolution CT unveiled an unexpected transformation of numerous thin-walled cysts clustered in the upper lobes, accompanied by ground-glass opacities, septal thickening, and a tree-in-bud pattern suggestive of active endobronchial spread. This radiological evolution, occurring posttreatment initiation, points to a dynamic pathophysiological process likely involving immune-mediated airway obstruction, necrosis, and structural remodeling of the parenchyma. This case reveals a rare form of pulmonary TB that mimics other cystic lung diseases. In TB-endemic areas, early recognition of cystic transformation, especially with recurrent pneumothorax or atypical imaging, is vital. Though uncommon, it highlights TB's chameleon-like nature and the value of serial imaging in guiding timely, effective management. Radiologists and clinicians should remain vigilant for such rare yet reversible complications in TB-endemic settings.
Haneena P, Navab M, Subramaniam G
… +1 more, Davis JP
J Assoc Physicians India
· 2025 Nov · PMID 41296298
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Tuberculosis involving the parotid lymph nodes is rare and can clinically and radiologically mimic benign neoplasms such as Warthin tumor, particularly when bilateral. We present the case of a 72-year-old male with bilat...Tuberculosis involving the parotid lymph nodes is rare and can clinically and radiologically mimic benign neoplasms such as Warthin tumor, particularly when bilateral. We present the case of a 72-year-old male with bilateral parotid swellings, initially suspected to be Warthin tumors based on magnetic resonance imaging (MRI) findings showing well-defined, cystic lesions with focal solid components and central necrosis. Histopathological examination following ultrasound-guided biopsy revealed caseating granulomas consistent with tuberculous lymphadenitis. This case highlights the importance of including infectious etiologies such as tuberculosis in the differential diagnosis of bilateral parotid lesions, especially in endemic regions.
Goel K, Sinha N, Singh D
… +3 more, Jambagi SA, Bhargav R, Kansagara H
J Assoc Physicians India
· 2025 Nov · PMID 41296297
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Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, also known as MELAS, is an uncommon genetic disorder of mitochondrial inheritance. It presents as variable neurological and systemic manifestati...Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, also known as MELAS, is an uncommon genetic disorder of mitochondrial inheritance. It presents as variable neurological and systemic manifestations. Here, we present a case of a young male who was a known case of seizure disorder and multiple neurological deficits. His clinical presentation included progressive hearing loss, diminution of vision, and recurrent headaches with vomiting. Neurological examination showed asymmetric limb weakness. Young-onset stroke was evaluated, and a magnetic resonance imaging (MRI) scan showed bilateral parieto-occipital hyperintensities. Serum lactate levels were high, which increased the suspicion of MELAS. m.3243A>G mutation was detected in mitochondrial DNA, confirming the diagnosis. Treatment involved the adjustment of antiepileptic therapy and the initiation of mitochondrial supplements. Our case emphasizes the heterogeneous clinical presentation and diagnostic challenges of MELAS as an important cause of young-onset stroke, highlighting the importance of early suspicion and confirmatory investigations for personalized management strategies to optimize patient outcomes.
J Assoc Physicians India
· 2025 Nov · PMID 41296296
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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...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.
J Assoc Physicians India
· 2025 Nov · PMID 41296295
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Acute intermittent porphyria (AIP) is a neurovisceral disease with multisystemic clinical manifestations, which are often nonspecific and highly variable. The triad of convulsions, abdominal pain, and hyponatremia in a y...Acute intermittent porphyria (AIP) is a neurovisceral disease with multisystemic clinical manifestations, which are often nonspecific and highly variable. The triad of convulsions, abdominal pain, and hyponatremia in a young woman points toward acute porphyria. AIP should be suspected in all cases of abdominal pain if it is associated with seizures, hyponatremia, encephalopathy, autonomic hyperactivity, a history of passage of dark urine, or acute flaccid paralysis. Here we describe a case of AIP in a male patient who presented with abdominal pain, seizures, and hyponatremia. He had unusual features, such as rhabdomyolysis, hyponatremia due to reset osmostat, mild elevation of pancreatic and liver enzymes, mild renal dysfunction, and reversible biochemical hyperthyroidism.
J Assoc Physicians India
· 2025 Nov · PMID 41296294
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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 IG...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.
J Assoc Physicians India
· 2025 Nov · PMID 41296293
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Hyperglycemic hyperosmolar nonketotic syndrome (HHNS) is a complication of type 2 diabetes mellitus that can progress to coma and death if left untreated. Focal hyperglycemic seizures are still an uncommon but noteworthy...Hyperglycemic hyperosmolar nonketotic syndrome (HHNS) is a complication of type 2 diabetes mellitus that can progress to coma and death if left untreated. Focal hyperglycemic seizures are still an uncommon but noteworthy association of HHNS and most commonly involve the occipital and parietal lobes. Gerstmann syndrome, also called angular gyrus syndrome, consists of a tetrad of finger agnosia, acalculia, left-right disorientation, and agraphia that is usually accompanied by aphasia and most commonly presents in parietal lobe pathology. Here we report a case of a 50-year-old right-handed male with complaints of focal right-sided upper limb and facial seizures and findings of acalculia, finger agnosia, left-right disorientation, semantic aphasia, and loss of comprehension. Laboratory reports suggested HHNS seizures that presented clinically as Gerstmann syndrome. Magnetic resonance imaging (MRI) of the brain revealed dominant (left in our case) parietal lobe pathology. Although it is understood that HHNS is linked with focal neurological deficits, the exact mechanism by which this happens is still unknown, and Gerstmann syndrome associated with hyperglycemic seizures is still underreported, necessitating additional research.
J Assoc Physicians India
· 2025 Nov · PMID 41296292
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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...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.
Sharma A, Bainara MK, Rajawat GS
… +1 more, Bishnoi S
J Assoc Physicians India
· 2025 Nov · PMID 41296291
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A 40-year-old nonsmoking female with a history of biomass fuel exposure presented with a persistent dry cough and progressive dyspnea, ultimately diagnosed as respiratory bronchiolitis-associated interstitial lung diseas...A 40-year-old nonsmoking female with a history of biomass fuel exposure presented with a persistent dry cough and progressive dyspnea, ultimately diagnosed as respiratory bronchiolitis-associated interstitial lung disease (RBILD) through transbronchial cryobiopsy. This case highlights the rare occurrence of RBILD in nonsmokers and emphasizes the diagnostic value of cryobiopsy in unexplained interstitial lung disease. Multidisciplinary collaboration was essential for accurate diagnosis and management.
J Assoc Physicians India
· 2025 Nov · PMID 41277214
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Stress is a part of life. Stress impacts persons living with chronic disease and those who care for them. Thus, coping with stress becomes an integral part of diabetes self-management education. This opinion piece descri...Stress is a part of life. Stress impacts persons living with chronic disease and those who care for them. Thus, coping with stress becomes an integral part of diabetes self-management education. This opinion piece describes useful ways of coping with stress. It uses a simple 4 × 3 model, designed in an alliterative manner. Four trigonal pillars, or the four As-approach/attitude, analysis, activity, and adjuvant methods-determine the efficacy of coping with stress. Each of these domains includes various attitudes, behaviors, and choices (ABC), which are described in a pleasing manner as 12 Ps. This list reinforces strategies, styles, and systems that can be used to ensure positive, productive coping.