Journal of investigative medicine high impact case reports最新文献

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.

Zieve syndrome is a rare alcohol-related disorder characterized by a triad of Coombs-negative hemolytic anemia, cholestatic jaundice, and transient hyperlipidemia. Its recognition is often delayed due to overlapping features with other hepatic pathologies, particularly alcoholic hepatitis. We present the case of a 35-year-old man with a history of alcohol use disorder, autoimmune hepatitis, and malnutrition who presented with jaundice, severe anemia, and hyperlipidemia. Laboratory evaluation revealed hemolytic anemia and cholestasis, and imaging showed hepatomegaly and hepatic steatosis. A clinical diagnosis of Zieve syndrome was made. Supportive care and alcohol cessation led to rapid clinical and laboratory improvement. This case highlights potential contributing factors beyond alcohol, including autoimmune liver disease and nutritional deficiency. A review of 11 published cases revealed similar patterns, suggesting that hepatic comorbidities may predispose to or exacerbate this syndrome. Clinicians should maintain a high index of suspicion for Zieve syndrome in patients with alcohol use disorder and anemia, particularly when bilirubin elevation and hyperlipidemia coexist. Prompt diagnosis may avoid unnecessary interventions and improve patient outcomes.

When first presented, ST-segment elevation on EKG (electrocardiogram) requires close scrutiny. The most concerning of possible diagnoses is acute coronary syndrome, yet it is not the only clinical entity that can cause ST-segment elevation. Herein, we present a case of a 62-year-old male current smoker with past medical history of uncontrolled diabetes, hypertension, and hyperlipidemia presenting with abdominal pain for 1 week duration. His initial admission EKG illustrated ST-segment elevation; however, his clinical presentation, lack of anginal symptoms, normal bedside transthoracic echocardiogram, and normal range troponin were not indicative of myocardial infarction. In fact, he was found to have elevated lipase and CT findings consistent with acute pancreatitis. This case highlights an uncommon presentation of pancreatitis and illustrates the importance of obtaining a comprehensive clinical history when evaluating patients to ensure patient's receive efficient and appropriate care.

Wellens' syndrome is characterized by a distinct electrocardiographic pattern, most notably biphasic or deeply inverted T waves in the anterior precordial leads, particularly V2 and V3. These findings typically reflect transient myocardial ischemia resulting from critical stenosis of the proximal left anterior descending (LAD) artery. They are often a warning sign of an impending anterior wall myocardial infarction. However, conditions such as pseudo-Wellens' syndrome can exhibit similar electrocardiogram (ECG) changes without LAD occlusion. In this case report, we describe a 71-year-old woman who presented with chest discomfort and dyspnea and was ultimately diagnosed with sepsis-induced cardiomyopathy, which produced ECG changes mimicking Wellens' syndrome despite the absence of coronary artery disease; cardiac catheterization found no significant coronary pathology. The diagnosis was determined to be stress-induced cardiomyopathy resulting from sepsis. This report highlights the importance of distinguishing between ischemic and nonischemic causes of similar ECG patterns. It emphasizes the necessity for careful diagnosis and management, particularly in complex situations like sepsis.

An 18-year-old teenager with significant atherosclerotic cardiovascular disease (ASCVD) risk factors developed acute chest pain. His electrocardiogram showed inferior ST-segment elevations. Emergent coronary angiogram revealed complete thrombotic occlusion of the right coronary artery. He underwent stenting of the culprit lesion with complete clinical recovery and resolution of his electrocardiographic abnormalities secondary to myocardial infarction.

We describe a 30-year-old Caribbean-Black woman with a clinical presentation suggestive of a transient ischemic attack (TIA) with no conventional cerebrovascular risk factors, albeit with a newly diagnosed quadricuspid aortic valve (QAV) with moderate aortic regurgitation (AR). Although QAV is a recognized congenital cardiac defect, its association with TIA remains elusive. This case highlights the importance of considering potential atypical etiologies, such as QAV, in the evaluation and management of young patients presenting with cerebrovascular events.

The Brevibacterium genus is a group of nonmotile, catalase-positive, and aerobic bacteria that form part of the skin flora. Brevibacterium species are an emerging opportunistic bacteria with an unknown pathogenic potential; hence, further research is needed. Most Brevibacterium bacteremia cases have been treated successfully with vancomycin, but there is still no consensus on the duration of treatment or the removal of the infected hardware. We describe a unique case of Brevibacterium luteolum bacteremia in a geriatric male patient undergoing chemotherapy for acute promyelocytic leukemia.