Abstract

INTRODUCTION: Esophageal diverticula (ED) are a rare structure abnormality with prevalence estimated to be between 0.06% to 4%. Esophageal epiphrenic diverticula (EED) are diverticula in the distal 10cm of the thoracic esophagus and are typically false diverticula with outpouching of only the submucosa and mucosa as the result of an esophageal motility disorder. Within ED, EED constitutes less than 10% of all esophageal diverticula, with an incidence of 1:500,000/year. Here we report a case of a true esophageal epiphrenic diverticula in the setting of heterotopic gastric mucosa patches (HGMPE) found after presentation with epigastric symptoms. CASE DESCRIPTION/METHODS: A 35-year-old female with a past medical history of endometriosis presented with a few months of epigastric pain, nausea, and vomiting with no response to treatment for gastroesophageal reflux disease (GERD) prompting investigation with esophagogastroduodenoscopy (EGD) which revealed a diverticulum 29cm from the incisors with normal surrounding mucosa. She returned for endoscopic ultrasound (EUS) for further evaluation with development of dysphagia with no regurgitation or halitosis. Repeat EGD prior to EUS revealed areas suggestive of ectopic gastric mucosal patches 28 cm from the incisor with a single diverticulum at the posterolateral aspect of the esophagus. Z line was at 38 cm from the incisors. EUS showed a single esophageal diverticulum from 28 to 30 cm with all 4 wall layers indicating a true diverticulum. Pathology from biopsy at the 29 cm showed cardia type mucosa with chronic inflammation without evidence of metaplasia, dysplasia, or intramucosal eosinophils significant for HGMPE. DISCUSSION: ED, particularly EED are a rare entity with varying clinical manifestations including dysphagia, regurgitation, weight loss, chest pain, halitosis, aspiration, and heartburn with the majority of patients being asymptomatic until the diverticula are larger than 5cm. Moreover, EED typically are false diverticula with the involvement of the mucosa and submucosa as a result of a motility disorder. The majority of true ED are located within the mid esophagus secondary to tuberculosis, histoplasmosis, and malignancy. Here, we describe a case with HGMPE resulting in a 2 cm true diverticulum within the distal third of the esophagus not identified on initial evaluation highlighting a cause for ED not previously identified in the literature and the importance for a thorough assessment of patients with esophageal disease.

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