Journal of investigative medicine high impact case reports最新文献

Sacral bone metastasis from primary follicular thyroid carcinoma (FTC) is rare. Most reported cases include factors indicative of thyroid origin, such as a history of treated thyroid cancer or newly identified thyroid nodules with malignant cytology. We herein report a 57-year-old woman with a metastatic sacral lesion of thyroid origin, initially misdiagnosed due to a false-negative fine-needle aspiration (FNA) cytology result of a thyroid nodule. The diagnosis was suspected based on an abnormally elevated serum thyroglobulin (sTg) level and confirmed through repeat core biopsy with thyroid-specific immunohistochemistry. This case highlights the limitations of FNA cytology in large thyroid nodules and underscores the potential role of sTg in diagnosing metastatic FTC in certain clinical scenarios. Thyroid carcinoma should be considered in the differential diagnosis of sacral metastases when the primary tumor is unknown.

Azacitidine and venetoclax are important anti-neoplastic agents used in the treatment of acute myeloid leukemia. Azacitidine has been implicated to cause nonhepatic ischemic injury. Here we report a case of severe, short latency drug-induced liver injury following the infusion of azacitidine and venetoclax in a patient which was subsequently mitigated through pretreatment with a vasodilatory agent.

Cryptococcal meningitis is mainly seen in immunocompromised patients, but in recent years, there has been an increase in cases involving patients with no known immunodeficiencies. These patients have symptomatic presentations that range from indolent and mild to typical and severe. We present a case of cryptococcal meningitis in an immunocompetent young patient with a chronic headache. The patient underwent imaging which showed diffuse leptomeningeal enhancement and a lumbar puncture which confirmed Cryptococcus neoformans. She underwent guideline-based treatment for cryptococcal meningitis and improved clinically. Cryptococcal meningitis should be considered in immunocompetent patients who present with typical signs of symptoms of meningitis, particularly chronic headaches and altered mental status.

Subclavian vein pseudoaneurysms are rare vascular lesions, and only a few cases have been reported in the literature, with most attributed to blunt trauma. We describe the first reported case of a subclavian vein pseudoaneurysm following percutaneous axillary lymph node biopsy. A 42-year-old woman presented with a progressively enlarging, painless right neck mass 18 months after treatment for node-positive breast cancer. Imaging with duplex ultrasound and contrast-enhanced computed tomography demonstrated a large saccular pseudoaneurysm arising from the right subclavian vein without arterial communication. Following initial observation, open surgical repair was performed via a supraclavicular approach, with excision of the pseudoaneurysm and primary repair of the vein. The patient recovered without complications and remained asymptomatic at follow-up. This case adds to the limited literature on venous pseudoaneurysms, highlights a novel iatrogenic mechanism, and supports open aneurysmorrhaphy as a safe and effective treatment option in appropriately selected patients.

Primary follicular lymphoma (PFL) is an indolent subtype of non-Hodgkin lymphoma that typically involves lymphoid tissues. Gallbladder involvement is exceedingly rare and poses significant diagnostic challenges. Few cases in the literature describe gallbladder follicular lymphoma, particularly in elderly male patients, leaving notable gaps in clinical understanding and management. Herein, we present the case of an 82-year-old male who presented with acute abdominal pain and unintentional weight loss. Initial imaging, including contrast-enhanced computed tomography, ultrasound, and magnetic resonance imaging, revealed a suspicious gallbladder mass with wall thickening and regional lymphadenopathy, raising concern for malignancy. Endoscopic ultrasound-guided fine needle aspiration and subsequent immunophenotyping confirmed a diagnosis of PFL. The patient underwent radical cholecystectomy with lymphadenectomy, and histopathological examination corroborated the diagnosis of gallbladder follicular lymphoma. During follow-up, the patient developed complications, yet no evidence of lymphoma recurrence was observed. A literature review identified 8 similar cases, further emphasizing the rarity of this presentation. Future research should focus on optimizing diagnostic techniques, refining therapeutic strategies, and conducting longer-term follow-up studies to better assess patient outcomes in such a rare disease. This case highlights the need for heightened clinical suspicion and comprehensive evaluation in atypical presentations of extranodal lymphoma.

Congenitally corrected transposition of the great arteries (ccTGA) is a complex cardiac abnormality that represents less than 1% of all congenital heart defects. It is characterized by a unique pathophysiology involving both atrioventricular and ventriculoarterial discordance and may occur with or without cardiac abnormalities such as ventricular septal defects, pulmonary stenosis, or tricuspid valve anomalies. A man in his 20s presented with a 3-week history of mild dyspnea during strenuous activities. The patient was diagnosed with isolated ccTGA based on electrocardiogram and echocardiogram findings. However, as a long-term complication of ccTGA, the patient exhibited mild tricuspid regurgitation, mild mitral regurgitation, and right ventricular hypertrophy. The dyspnea was explained by the failing systemic right ventricle. Despite his cardiac anomaly, the patient leads a normal lifestyle, with ongoing monitoring to ensure optimal management of his condition. ccTGA is even rarer in the absence of additional cardiac abnormalities, and its diagnosis could be delayed due to being asymptomatic. Patients must avoid risk factors and that could potentially aggravate their condition. Regular surveillance is imperative for the early detection of potential complications.

Thrombotic microangiopathy (TMA) is a severe condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and end-organ damage, often involving the kidneys. Complement-mediated hemolytic uremic syndrome (cHUS), a rare form of TMA, arises from dysregulated alternative complement pathway activation, frequently due to genetic mutations. We report the case of a 23-year-old male presenting with TMA secondary to a heterozygous mutation in the membrane cofactor protein (MCP/CD46) gene. The patient exhibited severe renal and cardiovascular complications, including acute kidney injury requiring hemodialysis, uremic pericarditis, and persistent anemia. Diagnostic evaluation confirmed complement dysregulation, and management with eculizumab, plasmapheresis, and hemodialysis was initiated. Renal biopsy revealed classic TMA features, and genetic testing identified the MCP mutation, underscoring the importance of genetic predispositions in guiding diagnosis and therapy. This case emphasizes the critical role of genetic testing in TMA evaluation and highlights the potential for improved outcomes through targeted complement inhibition and individualized care strategies.

Blastomycosis is a systemic fungal infection caused by Blastomyces dermatitidis, primarily found in the Ohio and Mississippi River valleys. It often presents nonspecific symptoms, and while pulmonary involvement is common, progression to acute respiratory distress syndrome (ARDS) is rare but severe. This report examines a 55-year-old female patient with multiple comorbidities who developed ARDS due to blastomycosis. Imaging revealed multilobar infiltrates and pleural effusion, with cultures confirming blastomycosis. Despite broad-spectrum antibiotics and antifungal therapy, a delayed diagnosis led to respiratory failure and death. The case emphasizes the diagnostic challenges of blastomycosis, which can mimic conditions like bacterial pneumonia and malignancy. Treatment with amphotericin B is crucial for severe cases, but delays in diagnosis can worsen outcomes. This highlights the necessity for prompt diagnosis and comprehensive management, including early recognition of fungal infections in critically ill patients.

Oxyntic gland adenomas (OGAs) are benign gastric neoplasms composed of gland-forming epithelial cells with predominantly chief cell differentiation resembling oxyntic glands confined to the mucosa. If the tumor has submucosal invasion, it should be classified as gastric adenocarcinoma of fundic gland type. The OGAs can pose a diagnostic challenge, as they can resemble aggressive gastric neoplasms. There are no current guidelines on the management of OGA. Due to the relatively small size and low malignant potential, these lesions are typically managed endoscopically. In this case, we are reporting a 22-year-old woman who was diagnosed with OGA during evaluation of iron deficiency anemia and underwent successful endoscopic resection.

Lymphocytic esophagitis (LE) is an uncommon subtype of esophagitis defined by persistent esophageal inflammation characterized by a high count of intraepithelial lymphocytes with scarce granulocytes. Although LE can present with atypical features such as chest pain, its clinical presentation can mimic that of gastroesophageal reflux disease or eosinophilic esophagitis, highlighting the importance of biopsy in diagnosing LE. Studies are still limited in understanding the pathophysiology behind this disease warranting further research. A 47-year-old female patient sought medical care with a chief complaint of recurrent substernal chest pain for the past year. An esophagogastroduodenoscopy was performed and showed patchy linear esophageal erosions and mucosal edema in the middle third of the esophagus with mild erythema. Biopsies revealed intraepithelial lymphocytosis with more than 40 lymphocytes per high-power field, corroborating a diagnosis of LE. Patient reported improvement after receiving high dose of proton pump inhibitor (PPI) on her first follow-up, advised to follow a low-acid diet and an annual endoscopy to monitor her response to treatment. Lymphocytic esophagitis often presents with symptoms that overlap with other esophageal diseases explaining the possible errors in underdiagnosing it as reason behind non-cardiac chest pain. This case plays an instrumental role in changing the way physicians translate unexplained chest pain, adding LE to their list of differential diagnosis as prompt detection slows us to start management with PPIs quicker and lessen the burden of symptoms on the patient. Standardized treatment approaches and further studies are required to clarify the connection between LE and non-cardiac chest discomfort.