Journal of investigative medicine high impact case reports最新文献

Squamous cell carcinoma (SCC) of the lung, a subtype of nonsmall cell lung cancer (NSCLC), uncommonly causes pericardial effusion. Pericardial effusions occur in 10% to 12% of lung cancer cases but are rarely the initial presentation. We report a case of a 68-year-old male with type II diabetes mellitus and chronic obstructive pulmonary disease who presented with right upper quadrant pain, dyspnea, and anorexia, suspicious of hepatobiliary disease. Imaging incidentally revealed a large pericardial effusion causing cardiac tamponade. Cytology of pericardial fluid identified malignancy, and biopsy of a mass found on subsequent chest computerized tomography diagnosed SCC of the lung. The patient experienced respiratory failure accompanied by bilateral pneumothorax, leading to the decision to initiate hospice care. Pericardial effusion warrants prompt echocardiography and pericardiocentesis with cytology. NSCLC-related effusions signify stage IV disease, managed palliatively with immunotherapy and chemotherapy. This case emphasizes the critical importance of evaluating pericardial effusions for malignancy, even in instances where the presentation may be atypical. We present a case of malignant cardiac tamponade that was obscured by underlying hepatobiliary disease. Maintaining a high level of suspicion for malignant effusions is essential, as failure to do so may lead to increased morbidity in patients with undiagnosed malignancies.

Idiopathic nodular glomerulosclerosis (ING) is mostly associated with long-standing active smoking and hypertension (HTN). Herein, we present a rare case of ING in a passive smoker with recently diagnosed uncontrolled HTN. A 60-year-old white female with Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma cell disorder, Skin changes (POEMS) syndrome and newly diagnosed HTN was referred because of an elevated creatinine level. She denied being an active smoker but reported long-term exposure to cigarette smoke due to living with a heavy smoking family and working as a bartender. Further investigations revealed microscopic hematuria and nephritic range proteinuria. Kidney biopsy revealed diffuse and focal nodular mesangial expansion without hypercellularity, with negative staining for amyloid, fibrillary glomerulonephritis, and immunoglobulins, leading to a diagnosis of ING. This case highlights a rare case of ING secondary to heavy passive smoking and uncontrolled HTN.

Mycobacterium kansasii is a slow-growing mycobacterium commonly affecting the lungs, usually in a structurally deformed lung. We discuss a case of 67-year-old male with a medical history of complicated coal workers pneumoconiosis or coal mine dust lung disease presented to the pulmonary clinic with worsening dyspnea and hemoptysis with imaging findings revealing cavitary lung lesions in the right upper lobe and progressive massive fibrosis (PMF) bilaterally. Patient sputum gram stain showed acid-fast bacilli, and the cultures grew M. kansasii. He was started on rifampin, ethambutol, and azithromycin. This case highlights the importance of thorough workup of cavitary lung lesion, reinforcing the association of mycobacterium species in a patient with PMF and associated cavities.

Blastoid mantle cell lymphoma (B-MCL) is a rare and aggressive subtype of B-cell non-Hodgkin lymphoma characterized by a high proliferation index and poor prognosis. Gastrointestinal (GI) involvement, which is common in systemic mantle cell lymphoma (MCL), rarely presents as an isolated lesion. Herein, we describe a unique case of B-MCL presenting as an isolated cecal mass. The patient experienced acute-onset abdominal pain and melena and was found to have cecal wall thickening on imaging, with regional lymphadenopathy. Colonoscopy revealed a large ulcerated polypoid lesion in the cecum, and histopathology confirmed the diagnosis of B-MCL. The patient completed 4 cycles of bendamustine/rituximab regimen but was terminally extubated due to clinical deterioration. Although infrequent, MCL should be considered in the differential diagnosis of isolated GI masses. This case adds to the limited literature on B-MCL, which could potentially help with the formulation of diagnostic and treatment algorithms for this rare pathology.

Ovarian cancer is the second most common gynecologic malignancy in the United States, with high mortality due to delayed diagnosis. Serum CA-125 is widely used for screening and monitoring but lacks sensitivity and specificity in some cases. We present a 67-year-old female diagnosed with advanced-stage ovarian cancer despite normal CA-125 levels, with elevated HE4 (human epididymis protein 4), underscoring its diagnostic value. This case highlights the importance of integrating HE4 with CA-125 in ovarian cancer evaluation and emphasizes a multimodal approach to enhance early detection and outcomes.

Acute rheumatic fever (ARF) is a complication of streptococcal pharyngitis that can present with cardiac, joint, skin, and neurological symptoms. Cardiac manifestations most often involve valvular dysfunction, but can also include myocarditis or pericarditis. Although advances in healthcare have reduced the prevalence of streptococcal pharyngitis, and subsequently ARF, individual cases and outbreaks can still occur. We present a case of rheumatic myopericarditis in a 60-year-old White male who initially presented to the emergency department with sore throat for 6 days. Initial workup was largely unremarkable, and no microbiological testing was performed at that time. He was diagnosed with presumed viral pharyngitis and discharged home with supportive care. He returned 1 week later with pleuritic mid-sternal chest pain and dyspnea. Laboratory tests were significant for elevated inflammatory markers, cardiac enzyme markers, anti-streptolysin O titers, and Streptococcus pyogenes bacteremia. Further evaluation revealed pericarditis, moderate pericardial effusion without tamponade, and reduced systolic function without valvular disease. The patient was diagnosed with rheumatic myopericarditis. Management included pericardial drainage, guideline-directed medical therapy for systolic heart failure and pericarditis, and primary treatment and secondary prevention of ARF with antibiotics. Currently, the patient's cardiac function has recovered, and he regularly follows up with his medical care team. Although less common in present times, clinicians are encouraged to consider streptococcal pharyngitis and ARF on the differential diagnosis for patients presenting with pharyngeal symptoms and subsequent cardiac manifestations, with or without valvular dysfunction. Primary and secondary prevention of ARF is paramount to maintaining the low incidence of this disease.

VEXAS syndrome, a myeloid-driven autoinflammatory disorder associated with somatic mutations in the UBA1 gene, was first described in 2020 and presents significant diagnostic challenges due to its complex clinical features, including hematological abnormalities and autoimmune manifestations. We describe a case involving a 64-year-old male presenting with persistent anemia, weight loss, fatigue, fever, and recurrent inflammatory symptoms. Diagnostic workup, including imaging, serology, and bone marrow biopsy, revealed characteristic findings, including myeloid hyperplasia, and vacuolization in precursor cells. Genetic testing identified a UBA1 gene mutation, solidifying the diagnosis of VEXAS syndrome. The patient responded to immunosuppressive treatment with prednisone and ruxolitinib, with significant improvement in symptoms. This case tells us the importance of considering VEXAS syndrome in patients with refractory systemic inflammation and hematological abnormalities, particularly in older males. Early recognition and genetic testing are crucial for guiding treatment decisions, as the condition is progressive, often relapsing, and requires multidisciplinary management.

Superficial perivascular dermatitis with tissue eosinophils is a histopathologic finding associated with various dermatologic conditions, including urticarial dermatitis, drug reactions, autoimmune processes, and infectious etiologies. Diagnosis often requires correlation of clinical findings, laboratory evaluations, and histopathologic examination. We present a case of a 24-year-old female with urticarial dermatitis-like symptoms, whose final diagnosis of superficial perivascular dermatitis with tissue eosinophils was established 2 weeks postdischarge. The case highlights the importance of maintaining a broad differential diagnosis, employing a structured diagnostic approach, and implementing strategic follow-up when histopathologic findings are delayed. This delay highlights the importance of a thorough differential diagnosis, a structured diagnostic approach, and strategic follow-up to guide management and allow for appropriate treatment options. Potential etiologies are explored, including medication-induced reactions, and a diagnostic approach is proposed for future cases.

Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disorder characterized by a wide spectrum of clinical features ranging from skin and joint involvement to organ dysfunction, including the central nervous system, peripheral nervous system (PNS), and renal failure. Guillain-Barré syndrome (GBS) is an immune-mediated acute polyradiculoneuropathy involving the PNS and represents an unusual initial manifestation of SLE. An 18-year-old female presented with subacute, progressive, ascending weakness of the lower and upper limbs, accompanied by hyporeflexia. Further clinical and laboratory evaluation revealed that the patient fulfilled the diagnostic criteria for SLE. Electromyography and nerve conduction studies demonstrated normal conduction velocities and latencies, but there was a reduced amplitude of compound motor action potentials in the distal muscles of the upper and lower limbs, without conduction block. Needle electromyography findings were consistent with a diagnosis of acute motor axonal neuropathy, considered a moderate-to-severe form of GBS. On evaluation, the patient exhibited polyarthralgia, widespread generalized erythematous rash, microcytic anemia, and bilateral pleural effusion. Immunological profiling revealed high-titer antinuclear antibody (1:1280), elevated anti-dsDNA (171 IU/mL), positive anti-Sm antibodies, and low C3/C4 levels. Treatment with pulse steroids (methylprednisolone 1 g/day for 3 days), immunosuppressants, and intravenous immunoglobulin led to marked improvement. This case emphasizes that SLE can precipitate GBS, and early recognition of this overlap may influence therapeutic strategies and improve outcomes.

Large granular lymphocytic (LGL) leukemia is a rare lymphoproliferative disorder characterized by cytopenia and autoimmune manifestations. While cytopenia and rheumatoid arthritis (RA) are common, transfusion-dependent anemia (TDA) without RA or other autoimmune disease is less frequently observed. We present a 79-year-old male with T-cell LGL leukemia, exhibiting isolated TDA without an autoimmune disease. Anemia remained refractory to erythropoietin and methotrexate, requiring transfusions, but showed a response to cyclophosphamide after 3 months of therapy. This case highlights an uncommon presentation of LGL leukemia, emphasizing the importance of considering LGL leukemia in the differential diagnosis of TDA.