The Journal of the Association of Physicians of India最新文献

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.

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.

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.

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.

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.

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.

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.

Background: Hypertension, a prevalent health issue worldwide, is a leading risk factor for cardiovascular disease and often coexists with other metabolic conditions. Despite its treatability, the specific mechanisms leading to organ damage from hypertension are not fully understood. This study aimed to evaluate blood pressure (BP) patterns among medical students using 24-hour ambulatory blood pressure monitoring (ABPM) and examine the relationship between these patterns and various associated factors.

Methodology: This study was conducted at a tertiary care center in North India and involved 75 undergraduate medical students. Data collected included demographic details, height, weight, body mass index (BMI), smoking history, alcohol intake, physical activity, and family history of hypertension. A structured questionnaire was used to gather information, and BMI was calculated for each participant. Office BP measurements were taken, followed by ABPM the next day.

Results: The results revealed that 41 (54.6%) of the participants were male and 34 (45.3%) were female, with most students aged 20-22 years. BMI distribution showed 30.67% had normal BMI, 30.67% were overweight, and 38.6% were obese. Office BP measurements identified only 13.3% as hypertensive. ABPM identified 38.6% of participants as hypertensive by at least one criterion (24-hour mean BP, daytime mean BP, or nighttime mean BP). White coat hypertension was present in 6 (8.5%) participants, and 25 (33.3%) participants had masked hypertension. There was no significant correlation of hypertension with gender, BMI, exercise, or family history of hypertension. Normal dipping was seen in 23 (30.67%) participants, 46 (61.3%) were nondippers, and 3 (4%) each were reverse and extreme dippers. There was no significant correlation of dipping patterns with gender, BMI, exercise, or family history of hypertension. Hypertensive individuals, along with nondippers and reverse dippers, were referred for further evaluation.

Conclusion: In our study, 29 participants were found to be hypertensive on ABPM, and 49 participants had abnormal dipping patterns. This increase in BP or abnormal dipping observed at such a young age is alarming. This was a single-center study with a small sample size, and therefore the results cannot be generalized to larger population sizes. Further multicenter studies in young patients with a larger sample size are required.

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.