Journal of investigative medicine high impact case reports最新文献

Myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase fusions (M/LN-eo-TK) are uncommon but highly treatable disorders. Among them, FIP1L1::PDGFRA-driven disease is distinguished by marked eosinophilia and multisystem involvement that can rapidly reverse with targeted therapy. We describe a 50-year-old man with uncontrolled diabetes who presented with progressive dyspnea, abdominal discomfort, and painful necrotic scrotal ulcers. Laboratory testing revealed leukocytosis with a striking absolute eosinophil count of 22.1 × 10³/µL, while imaging showed pulmonary infiltrates, small-bowel inflammation, and splenomegaly. Bone marrow examination demonstrated hypercellularity with prominent eosinophilic proliferation. Fluorescence in situ hybridization confirmed a PDGFRA rearrangement with CHIC2 deletion, establishing the diagnosis of FIP1L1::PDGFRA-positive M/LN-eo-TK. Imatinib was initiated at 400 mg daily, later reduced to 200 mg, leading to a rapid normalization of eosinophil counts and resolution of systemic and dermatologic manifestations within 2 weeks. The case highlights how delayed recognition of clonal eosinophilia can permit extensive organ injury, whereas early molecular testing and prompt initiation of imatinib yield dramatic clinical and hematologic remission. Persistent hypereosinophilia, particularly with cutaneous or gastrointestinal involvement, should prompt evaluation for PDGFRA-rearranged disease to enable early intervention and prevent irreversible tissue damage.

Coarctation of the aorta (CoA) is a congenital narrowing typically detected in childhood; survival into adulthood without repair is uncommon. Aortic dissection (AD) is an exceedingly rare complication in this specific context, particularly involving the descending aorta. We describe a case of a 46-year-old Caribbean-Black male with a medical history of chronic hypertension (HTN) who presented with unstable angina and hypertensive crisis. Emergent computed tomography angiography revealed critical proximal descending CoA with poststenotic dilatation and an acute Stanford type B AD. He was initially stabilized on guideline-directed medical therapy, and while definitive surgical repair was recommended, the patient declined. This exceedingly rare case of type B AD complicating unrepaired CoA underscores the importance of recognizing congenital aortic disease as a cause of refractory HTN in adults. Additionally, it highlights the need for continued vigilance for long-term complications in adults with congenital heart disease.

Paratesticular rhabdomyosarcoma (RMS) is a rare malignancy, representing ~3% of all pediatric soft tissue tumors. The spindle cell subtype, a variant of embryonal RMS, is particularly uncommon but is typically associated with a favorable prognosis. We report the case of a 12-year-old boy who presented with a painless, progressively enlarging right inguinoscrotal mass. Imaging studies revealed a heterogeneous lesion without distant metastasis, and tumor markers were within normal limits. The patient underwent radical orchiectomy, and histopathology confirmed spindle cell RMS, with immunohistochemical positivity for myogenin and desmin. After completing treatment with the Children's Oncology Group (COG)-ARST0531 Vincristine, Actinomycin D, and Cyclophosphamide protocol, a retroperitoneal lymph node recurrence was detected 1 year later. Management consisted of surgical resection and escalated chemotherapy per the COG-ARST0431 protocol, with subsequent imaging showing no evidence of disease. This case demonstrates that despite a favorable histology, paratesticular spindle cell RMS carries a risk of late, regional recurrence, underscoring the necessity of vigilant long-term surveillance. We also performed a systematic literature review to contextualize our findings, focusing on clinical presentation, therapeutic strategies, and outcomes.

Cholesterol crystal embolism (CCE) is an underdiagnosed systemic condition that often leads to acute kidney injury (AKI) with poor kidney prognosis. Herein, we report a case of dialysis-dependent AKI due to spontaneous CCE with early kidney recovery. A 76-year-old man with hypertension, diabetes mellitus type 2, chronic hepatitis B virus, adrenal insufficiency and gout presented with fatigue, polyarthritis, oliguria, and elevated serum creatinine. Imaging revealed an infrarenal abdominal aortic aneurysm with diffuse atherosclerosis, and laboratory findings showed markedly elevated D-dimer without eosinophilia or autoantibodies. Despite supportive measures, kidney function deteriorated rapidly, necessitating urgent initiation of intermittent hemodialysis on 4 occasions during the first week. Kidney biopsy confirmed cholesterol clefts within medium-sized arteries, establishing the diagnosis of CCE. The patient was treated with corticosteroids, high-dose statins, aspirin, and supportive therapy. Remarkably, kidney function improved, allowing discontinuation of dialysis by the end of the first week, and he was discharged on day 22 with significant recovery of kidney function. In conclusion, CCE-related AKI is rare and typically associated with poor outcomes, yet this case demonstrates that early recognition, timely kidney biopsy, and prompt initiation of corticosteroids and high-dose statins may enable full kidney recovery.

Immunosuppressed patients have increased morbidity and mortality due to SARS-CoV-2 infection. They can have reduced protective antibodies levels or reduced cellular immunity resulting in inability to clear the virus and persistent viremia and virus-induced inflammation. We present the case of a 52-year-old male, immunosuppressed due to use of rituximab for treatment of chronic inflammatory demyelinating polyneuropathy, who developed pneumonitis from SARS-CoV-2 infection. The patient required hospitalization 4 times over a 3-month period due to recurring pneumonitis symptoms, including fever, dyspnea, and a severe cough. The final diagnosis was delayed due to negative SARS-CoV-2 polymerase chain reaction tests on 7/8 of nasopharyngeal specimens, as well as failure to clinically improve with administration of remdesivir after the sole positive test. He was thought to have rituximab-induced organizing pneumonia, but his condition gradually worsened with additional immunosuppression directed against that condition. His active SARS-CoV-2 infection was eventually confirmed from a bronchoalveolar lavage specimen on the final hospitalization, and he was then treated with a multimodal regimen that included an antiviral agent (nirmatrelvir/ritonavir), a Janus Kinase inhibitor (baricitinib), intravenous immunoglobulin, and intravenous methylprednisolone. He had a prompt and sustained clinical response to this multimodal regimen. Persistent COVID-19 should be considered in the differential diagnosis in patients with unexplained organizing pneumonia, and can be treated effectively with multimodal therapy as above.

Boerhaave's syndrome is a rare and life-threatening form of spontaneous esophageal perforation, typically triggered by forceful vomiting and often misdiagnosed due to nonspecific clinical features. Although Mackler's triad (vomiting, chest pain, and subcutaneous emphysema) is classically associated with the condition, it is infrequently observed in full. We present the case of a 32-year-old man with a history of ulcerative colitis (UC) who presented to the emergency department with acute chest pain and repeated vomiting following dinner. He reported a sensation of food impaction and sought care 2 hours after symptom onset. Examination revealed subcutaneous emphysema and abdominal tenderness. Imaging with oral contrast-enhanced computed tomography revealed pneumomediastinum, pneumoperitoneum, and a distal esophageal perforation, confirming Boerhaave's syndrome. He underwent robotic-assisted laparoscopic repair with anterior fundoplication, endoscopic stenting, and drainage. His postoperative course included thoracentesis, IV antibiotics, and a gradual reintroduction of diet. A mild UC flare was managed with mesalamine. He was discharged in stable condition on postoperative day 9 and had full radiologic recovery at 3 months. This case stands out for its complete presentation of Mackler's triad, a rare occurrence that facilitated early diagnosis. The patient's young age and concurrent UC added clinical complexity. Prompt imaging and early minimally invasive surgical management, combined with coordinated multidisciplinary care, were key to a favorable outcome. This case underscores the importance of considering Boerhaave's syndrome in atypical presentations and acting swiftly when classical signs do appear.

Partial anomalous pulmonary venous return (PAPVR) involving the left upper lobe pulmonary vein is an exceptionally rare congenital anomaly that, if untreated, can lead to pulmonary hypertension (PH). Its nonspecific clinical presentation often results in delayed diagnosis. We report the case of a 58-year-old woman who initially presented with progressive dyspnea and was diagnosed with group III pulmonary hypertension attributed to obstructive lung disease. Two years later, she returned with similar symptoms after discontinuing diuretic therapy. Further evaluation uncovered a previously undetected anomalous left pulmonary vein draining into the left innominate vein. This case highlights the diagnostic challenges of PAPVR, its role in contributing to PH, and the critical need for high clinical suspicion and comprehensive evaluation in patients with unexplained pulmonary hypertension.

Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. Its association with dentinogenesis imperfecta (DI) is well documented, but the concurrent presentation with nephrocalcinosis is uncommon and poorly understood. We documented the case of an 18-year-old male presenting with a triad of OI, DI, and nephrocalcinosis. The patient exhibited characteristic features including blue sclera, multiple fractures, dental abnormalities, bowing of long bones, a short stature, and biochemical evidence of altered calcium metabolism. Genetic testing revealed mutations in COL1A1, confirming the diagnosis of OI Type I. This case highlights the importance of comprehensive evaluation in OI patients, emphasizing the need for dental and renal assessment. The presence of nephrocalcinosis in OI demands further investigation into the mechanisms of calcium dysregulation in disorders of these kinds.

Neuroendocrine cells are distributed throughout the body's organs, though neuroendocrine neoplasms are primarily documented in the gastrointestinal tract and pancreas, with rare occurrences elsewhere. Herein, we report a case of primary neuroendocrine tumor of the omentum (omental NET) that was incidentally detected as an omental mass during preoperative screening for colorectal cancer. The patient, a 66-year-old woman, with abdominal pain and decreased oral intake, leading to a diagnosis of obstructive colorectal cancer with a large, 55 mm, mass around the gastropyloric region, which was discontinuous with the gastrointestinal tract. After the placement of a colonic stent at the site of the ascending colon cancer to decompress the colon, a laparoscopic right hemicolectomy was performed, simultaneously excising the mass. Postoperative pathology revealed a neuroendocrine tumor (NET). Subsequent examinations detected no other lesions of suspected primary disease and postoperative somatostatin scintigraphy found no other lesions, establishing a diagnosis of omental NET. The rarity of omental NETs is attributable to the absence of neuroendocrine cells in the omentum. Moreover, solid tumors originating primarily from the omentum are very rare, making preoperative diagnosis difficult; therefore, postoperative pathology should be utilized. We presented a very rare case of omental NET, previously reported only once in the literature, and believe that complete resection with minimal invasiveness should be performed for treatment of this malignancy. In addition, we emphasize the need for continued patient follow-up.

Cardiac amyloidosis (CA) is a rare disorder caused by the deposition of abnormal proteins called amyloid in the myocardium, leading to dysfunction. The 2 most common forms of amyloidosis are AL (light chain) and ATTR (transthyretin). Diagnosing amyloidosis is challenging, especially in its early stages, due to its nonspecific symptoms and overlap with other conditions. Recent studies suggest that the incidence of wild-type transthyretin amyloidosis is rising, likely due to improved diagnostic techniques and an aging population. We present the case of a 72-year-old male with lower extremity edema, progressive shortness of breath, and worsening renal function. He had a significant medical history, including hypertension, small lymphocytic lymphoma, coronary artery disease, diabetes, and chronic kidney disease. Physical examination revealed orthostatic hypotension and peripheral neuropathy. Imaging showed restrictive cardiomyopathy with reduced ejection fraction. Laboratory tests confirmed anemia and proteinuria, while a bone marrow biopsy ruled out AL amyloidosis. A Tc-99m pyrophosphate scan confirmed the diagnosis of ATTR CA. ATTR often presents with multi-organ involvement, complicating diagnosis. This patient's coexisting conditions, including orthostatic hypotension and renal failure, may have been aggravated by amyloidosis. Misdiagnosis between AL and ATTR can lead to inappropriate treatments, making accurate diagnosis crucial. ATTR requires transthyretin stabilizers and symptom management, while AL needs chemotherapy. Treatment of amyloidosis must be individualized, as autonomic dysfunction, arrhythmias, and renal involvement require careful management. Early diagnosis and differentiation are essential for appropriate treatment and improved outcomes in patients with multi-organ involvement.