ACG Case Reports Journal最新文献

The differential for dysphagia is broad, with dysphagia aortica being an incredibly rare cause of pseudoachalasia. In a patient with longstanding, refractory achalasia who presents with progressive dysphagia, Occam's Razor would suggest that the underlying cause remains achalasia itself. We present a case in which a patient with known achalasia developed concurrent pseudoachalasia due to dysphagia aortica. This case underscores the diligence of her gastroenterologist in identifying an unsuspected aortic aneurysm-an entity that the cardiothoracic surgery team deemed "a ticking time bomb." It is critical to always consider Hickam's dictum: Patients may have multiple diseases simultaneously.

Hydatid disease, also known as cystic echinococcosis, affecting the liver can vary in clinical presentation from uncomplicated to most complicated one that can rupture into the bile duct. In the past, surgery was the mainstay of treatment for biliary complications. However, with the increasing expertise of endoscopic retrograde cholangiopancreatography, biliary complications are less common. Endoscopic retrograde cholangiopancreatography can be used preoperatively and postoperatively in patients presenting with jaundice to treat biliary obstruction and biliary fistula. In our case report, we illustrate the use of cholangioscopy with SpyGlass DS II Direct Visualization System (SpyGlass DS II; Boston Scientific) SpyBite Max forceps for complete removal of the parasite from the bile duct.

Bronchobiliary fistula (BBF) is an atypical passageway between the biliary system and the bronchial tree. There are scarce reports of BBF and even fewer in living donor liver transplant (LDLT) recipients. We present a case of BBF in a 36-year-old woman who developed a bilious cough 2 years after a LDLT that was complicated by a late bile leak. We conclude that BBF should be considered in LDLT recipients who develop a bile leak postoperatively, given this common risk factor among reviewed cases. We support the use of hepatobiliary scintigraphy for diagnosis and noninvasive approaches aimed at decompression for repair.

Heterotopic pancreas is a pancreatic tissue outside of its normal location. It is usually benign and asymptomatic but rarely can develop neoplasms such as intraductal papillary mucinous neoplasms (IPMNs). A 73-year-old woman undergoing evaluation for chronic reflux was found to have a gastric submucosal lesion on esophagogastroduodenoscopy. Endoscopic ultrasound findings were inconclusive, leading to endoscopic submucosal dissection performed with a complete resection. Histopathology confirmed pancreatic heterotopia with IPMN changes and focal high-grade dysplasia. This case highlights that IPMNs with high-grade dysplasia can rarely arise in gastrointestinal heterotopic pancreas. Careful management and ongoing surveillance are essential due to potential malignant transformation.

Acalculous cholecystitis is an uncommon cause of cholecystitis. Drug reaction with eosinophilia and systemic symptoms is a complex syndrome that is induced by medications with delayed manifestations. Commonly implicated medications include anticonvulsants and antibiotics. We present the first case of acalculous cholecystitis due to quetiapine-induced drug reaction with eosinophilia and systemic symptoms. This case report emphasizes the need for high clinical suspicion to initiate appropriate treatment.

Hemobilia is a rare cause of gastrointestinal bleeding, most commonly resulting from trauma or iatrogenic injury. Vascular complications such as arterioportal fistula (APF) are extremely uncommon, especially when occurring spontaneously in the setting of a liver abscess. We report a case of a 59-year-old man who presented with fever, abdominal pain, and later developed melena and biliary obstruction after percutaneous drainage of a presumed amoebic liver abscess. Endoscopic retrograde cholangiopancreatography revealed active bleeding from the biliary orifice, confirming hemobilia. Computer tomography angiography identified an APF in segment VIII of the liver. The patient was successfully managed with endoscopic stenting followed by transarterial coil and glue embolization of APF, resulting in complete resolution of symptoms. This case underscores the importance of maintaining a high index of suspicion for vascular complications like APF in patients with liver abscesses who develop signs of gastrointestinal bleeding and biliary obstruction. A multidisciplinary, image-guided approach is essential for prompt diagnosis and life-saving management.

Microvillus inclusion disease (MVID) is a rare congenital enteropathy marked by severe secretory diarrhea and malabsorption due to microvillous atrophy secondary to accumulation of secretory granules in the apical cytoplasm of enterocytes. Management is supportive with parenteral nutrition and emergent management of acute electrolyte disturbances. We report an 8-month-old male infant with genetically confirmed MVID (MYO5B mutation) who developed life-threatening hyponatremia (serum sodium 118 mmol/L) despite maximal sodium supplementation (>300 mmol/d = 49 mmol/kg/d) and negligible urinary sodium level. High-dose fludrocortisone (100 mcg bid; 28.4 mcg/kg/d) successfully restored serum sodium levels and reduced stool output, with normalization of renin and aldosterone, without adverse effects. This case demonstrates a potential therapeutic benefit of gastrointestinal mineralocorticoid receptor agonism in managing severe hyponatremia in patients with MVID during periods of acute decompensation.

We present the case of a 30-year-old man with a history of neurodevelopmental delay and congenital secretory diarrhea since childhood complicated by recurrent small bowel obstructions requiring multiple surgeries. Genetic testing identified a de novo gain-of-function GUCY2C c.2309T>C (p.Leu770Pro) mutation, causing congenital diarrhea through persistent chloride and water secretion in a mechanism similar of enterotoxigenic E. coli. For less clear reasons, the mutation is also associated with small bowel obstructions and Crohn's disease-like phenotype. A co-occurring de novo PRR12 c.768del (p.Ala257Leufs*58) frameshift mutation explained his developmental delay. Together, these findings resolved a decades-long diagnostic challenge and enabled a personalized care plan for the patient.

Achalasia is a premalignant condition with higher risk of esophageal squamous cell carcinoma (ESCC), but there is a lack of consensus on surveillance protocol need because of inconsistent data regarding the increased risk of ESCC in these patients compared to the general population. ESCC is generally proximally located and less common than esophageal adenocarcinomas. Although most ESCC in patients with a history of achalasia are found in the middle third of the esophagus, patients who underwent surgical intervention resulting in a modified anatomy of the esophagus and the upper stomach may have a different presentation and endoscopic findings. Unfortunately, the diagnosis of ESCC may be delayed as symptoms of achalasia and esophageal carcinomas may overlap. To our knowledge, this case represents the first reported instance of a patient with distal ESCC with fistulization to the upper stomach because of a prior Heller myotomy and fundoplication for achalasia.