Journal of investigative medicine high impact case reports最新文献

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.

Littoral cell angioma (LCA) is a rare primary splenic vascular neoplasm originating from the littoral cells of the reticuloendothelial system. Splenectomy is the accepted mode of definitive diagnosis and treatment. With fewer than 200 reported cases, LCA remains poorly understood. Herein, we provide an enhanced insight into its histology and highlight the role of nuclear imaging in aiding LCA diagnosis. A 63-year-old female with a history of stage II multiple myeloma (MM) and rheumatoid arthritis was incidentally found to have a slowly enlarging splenic mass over a 6-year period. Given her candidacy for autologous hematopoietic stem cell transplantation for MM, further evaluation of the splenic lesion was pursued using nuclear medicine (NM) liver-spleen scan, which revealed a photopenic region consistent with a benign hemorrhagic mass. Subsequent splenectomy and histopathological analysis confirmed the diagnosis of LCA, with immunohistochemistry demonstrating CD68+ and CD31+ expression, highlighting LCA's unique dual histiocytic and endothelial character. This case highlights the diagnostic challenge posed by LCA due to its nonspecific clinical presentation and imaging findings. While splenectomy remains the gold standard for diagnosis, our findings suggest that NM liver-spleen scan imaging may aid in differentiating LCA from malignant splenic masses preoperatively. Furthermore, this case reinforces the association between LCA and hematologic malignancies, supporting the hypothesis that immune dysregulation may play a role in its pathogenesis. This underscores the importance of considering LCA in the differential diagnosis of splenic masses, particularly in cases involving a history of malignancy and/or immune system abnormalities.

Colorectal cancer (CRC) with deficient mismatch repair (dMMR) and microsatellite instability-high (MSI-H) status represents a highly immunogenic subset that responds well to immune checkpoint inhibitors (ICIs). However, the role of ICIs in resectable, early-stage CRC remains under investigation. We report the case of an 81-year-old woman diagnosed with stage III adenocarcinoma of the right colon, who declined surgery. Immunohistochemistry revealed loss of MLH1 and PMS2, consistent with dMMR. Tumor genomic profiling demonstrated MSI-H, high tumor mutational burden, BRAF V600E, and BRCA2 mutation. Germline testing was negative for BRCA and Lynch syndrome-associated mutations. The patient was treated with neoadjuvant pembrolizumab. After 4 months, mesenteric lymphadenopathy resolved, but focal colonic thickening persisted. The patient again declined surgery. At 10 months of pembrolizumab therapy, PET/computed tomography and colonoscopy showed no residual disease. She developed immune-related adrenal insufficiency, managed with corticosteroids. This case demonstrates complete clinical remission of resectable colon cancer with pembrolizumab alone in a patient with somatic dMMR/MSI-H, BRAF V600E, and BRCA2 mutations. It supports the hypothesis that early use of ICIs-prior to metastatic progression and immune escape-may enhance efficacy. This report highlights the potential for personalized, surgery-sparing treatment strategies in genomically selected CRC patients.

Sarcoidosis is a systemic disease where extrapulmonary presentation of the disease often goes unrecognized as it overlaps with many disease manifestations. End-stage renal disease (ESRD) can be complicated by hypercalcemia and encephalopathy, both potential signs of sarcoidosis. These numerous extrapulmonary presentations may delay timely diagnosis and treatment. In this case report, a 53-year-old male with ESRD was admitted following an unresponsive episode during routine hemodialysis, later found to have sarcoidosis. Initial presentation notable for hypothermia, tachycardia, leukocytosis, and metabolic derangements. Bronchoalveolar lavage cultures subsequently grew methicillin-sensitive staphylococcus aureus, successfully treated with cefazolin. However, the patient remained encephalopathic and hypercalcemic. Further workup showed nonparathyroid hormone-mediated hypercalcemia with a normal 25-OH vitamin D and elevated 1,25-OH vitamin D, concerning for sarcoidosis, malignancy, or tuberculosis. Additional computed tomography imaging and endobronchial ultrasound-guided biopsy illustrated enlarged lymph nodes with splenomegaly and nonnecrotizing granulomas, respectively, confirming the diagnosis of sarcoidosis. He was started on methylprednisolone, pantoprazole, and trimethoprim/sulfamethoxazole for pneumocystis jirovecii pneumonia prophylaxis; serum calcium levels started to drop, and his mentation improved. While his encephalopathy was initially presumed secondary to his ESRD and infection, further workup revealed sarcoidosis. Untreated sarcoidosis has significant health complications including lung fibrosis, pulmonary hypertension, heart arrhythmias, and neurological deficits. This case highlights the importance of maintaining a broad differential in the setting of critically ill patients as clinical presentations can be multifactorial. Furthermore, patients with a complex medical history such as ESRD on hemodialysis can make concluding sarcoidosis as a diagnosis more difficult.

Nontraumatic clostridial myonecrosis infections are predominantly caused by Clostridium septicum. Most patients have an underlying gastrointestinal malignancy. This case presents a rare association of spontaneous clostridial myonecrosis preceding cerebral septic emboli with underlying invasive colorectal adenocarcinoma. A 60-year-old male with a history of hypertension, diabetes, and a family history of colon cancer presented to the emergency room with worsening left-sided chest pain radiating to his left shoulder. Extensive workup revealed elevated D-dimer, troponin, C-reactive protein, white blood cell count, and creatinine phosphokinase. Due to his clinical signs, symptoms, elevated white count, and further decompensation, he was started on antibiotics for sepsis. Physical exam revealed left upper extremity (LUE) crepitus consistent with imaging of innumerable soft tissue gas collections along the LUE. Incision, drainage, and myomectomy were performed due to concerns of myositis and necrotizing infection. Muscle biopsy revealed myonecrosis, and subsequent samples were positive for C. septicum. Postoperative pressor support and several sessions of surgical debridement were required. He continued to deteriorate and developed left-sided paralysis. Computed tomography head revealed several white matter infarcts indicative of septic emboli. The patient slowly recovered neurologically after switching to central nervous system-penetrating antibiotics. Months later, a colonoscopy revealed cecal adenocarcinoma. This case features a unique course of spontaneous C. septicum infection. There are high mortality rates, and previous studies report an association with colorectal malignancies. Therefore, preventative and diagnostic evaluations are imperative with a confirmed C. septicum infection. To our knowledge, this is the first case reported of cerebral septic emboli secondary to spontaneous myonecrosis with C. septicum, highlighting a unique burden of emboli-induced neurological deficits.