ACG Case Reports Journal最新文献

Downhill esophageal varices (DEV) are rare vascular abnormalities of the proximal esophagus, commonly caused by superior vena cava obstruction. We report a 75-year-old man who presented with intermittent dysphagia and globus sensation, in whom endoscopy demonstrated large proximal esophageal varices. Extensive evaluation excluded portal hypertension and cross-sectional imaging, and venography showed a patent superior vena cava and inferior vena cava but demonstrated right internal jugular vein occlusion with possible azygos system compression. These findings were considered remote and insufficient to explain the extensive proximal varices, which were ultimately classified as idiopathic DEV. This atypical presentation underscores the diagnostic challenges of DEV and the need for heightened clinical awareness of this rare entity.

Granulomatosis with polyangiitis (GPA) is a necrotizing small vessel vasculitis, which is most classically associated with lung and renal involvement. In this article, we present a young man who presented with oral ulcers, odynophagia, and foreign body sensation in the esophagus. Upper endoscopy revealed many esophageal ulcers with biopsies highly suspicious for GPA and no infectious etiologies identified on extensive testing. To our knowledge, this is a unique diagnosis of ANCA-negative GPA in a patient presenting with isolated oral and esophageal involvement.

Kasabach-Merritt syndrome (KMS) is a rare, life-threatening coagulopathy associated with kaposiform hemangioendothelioma and tufted angioma, typically seen in infants and rarely in adults. It is thought to result from platelet and coagulation factor sequestration within vascular lesions, leading to severe bleeding. We report a case of a 70-year-old woman with KMS presenting with rectal bleeding. Despite limited access to desmopressin, which had effectively controlled her symptoms, she experienced recurrent bleeding and ultimately succumbed to gastrointestinal hemorrhage. This case underscores the challenges of managing KMS in adults and highlights the importance of multidisciplinary coordination and consistent follow-up.

Esophageal epidermoid metaplasia is a rare premalignant condition characterized histologically by a well-developed granular layer with hyperorthokeratosis and is associated with an increased risk of esophageal squamous cell carcinoma. We present a case of a 56-year-old woman with progressive dysphagia and weight loss who was diagnosed with epidermoid metaplasia that demonstrated histologic resolution during surveillance, despite persistent endoscopic abnormalities. This case highlights the uncertainty surrounding disease progression and emphasizes the need for ongoing endoscopic surveillance even in the setting of apparent histologic regression.

Emphysematous hepatitis (EH) is a fulminant, gas-forming infection of the liver parenchyma, radiologically defined by diffuse intraparenchymal gas without abscess formation. Mortality exceeds 70%. A 61-year-old man with metastatic pancreatic adenocarcinoma and biliary stents presented with encephalopathy, hypotension, tachycardia, and lactic acidosis (14 mmol/L). CT revealed intraparenchymal hepatic gas within necrotic metastases, consistent with EH, with pneumoperitoneum. A chest radiograph demonstrated free subdiaphragmatic air. Percutaneous cholangiography confirmed intrahepatic duct narrowing, and postkissing stent deployment demonstrated restored ductal configuration. MRCP showed recurrent porta hepatis mass with intrahepatic biliary dilatation. Blood cultures grew Clostridium perfringens (resistant to clindamycin), Escherichia coli, and Enterococcus faecium. This polymicrobial profile is typical of EH in biliary obstruction, and rare clindamycin resistance in Clostridium perfringens has implications for empiric therapy. Broad-spectrum antibiotics were commenced. However, given presentation, polymicrobial sepsis, portal vein occlusion, and advanced malignancy, surgical options were not feasible. Care was transitioned to comfort measures, and the patient died the following day. This case highlights polymicrobial EH with C. perfringens clindamycin resistance. It underscores the importance of rapid recognition, empiric toxin-active therapy, and early goals-of-care discussions in patients with advanced malignancy.

Fishbones are a common aerodigestive foreign body because of their irregular shape and the complex anatomy of the throat and esophagus. They are usually lodged in the upper esophagus and may sometimes cause severe complications. We present a 61-year-old man with dysphagia and chest discomfort 8 days after eating fish. CT imaging revealed a fishbone horizontally lodged across the esophagus with bilateral perforation into the mediastinum. Endoscopic removal was successfully performed under surgical standby. This case highlights a rare bilateral perforation, emphasizing the importance of CT imaging, multidisciplinary coordination, and creative endoscopic management.

Von Hippel-Lindau (VHL) syndrome is a rare autosomal-dominant tumor predisposition syndrome characterized by benign and malignant neoplasms across multiple organ systems. We report a case where next-generation sequencing (NGS) of pancreatic cyst fluid resulted in the first diagnostic clue to VHL. A 44-year-old woman presented with subarachnoid hemorrhage from cervical hemangioblastoma and incidental finding of multiple pancreas cysts. Endoscopic ultrasound with fine-needle aspiration was performed and standard cyst fluid analysis was nondiagnostic, but cyst fluid NGS identified a pathogenic VHL mutation. This case highlights the utility of cyst fluid NGS in uncovering hereditary cancer syndromes when conventional analyses are inconclusive.

[This corrects the article DOI: 10.14309/crj.0000000000001898.].