Peutz–Jeghers Syndrome: A Rare Cause of Gastric Outlet Obstruction

A 16-year-old female patient with notable mucocutaneous pigmentation and a history of recurrent small bowel intussusception presented with a gastric outlet obstruction. A computed tomography scan revealed a large mass in the region of the gastric antrum obstructing the pylorus. Esophagogastroduodenoscopy revealed multiple diminutive sessile gastric polyps as well as a massive, multilobulated, pedunculated polyp measuring approximately 10 cm. The polyp was situated on a broad stalk arising from the gastric antrum and had prolapsed into the duodenum (Figure A). With the assistance of an endoscopic net, the polyp was retracted into the stomach (Figure B). Because of its massive size and broad stalk, no attempt was made to remove this polyp endoscopically. A surgical resection was performed. Microscopic examination revealed the characteristic arborization pattern of smooth muscle extending up from the muscularis mucosae consistent with a hamartomatous polyp (Figure C; hematoxylin-eosin stain; 20×, original magnification). The patient's postoperative recovery was uneventful, and the symptoms of gastric outlet obstruction resolved.

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Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant inherited disorder characterized by distinctive dark brown mucocutaneous pigmentation and hamartomatous polyposis. Polyps in PJS occur most commonly in the small bowel (64%); however, they are not uncommonly found in the colon (53%), stomach (49%), and rectum (32%).1 Most cases of PJS present in the second or third decade of life, with symptoms of abdominal pain, gastrointestinal bleeding, anemia, small bowel intussusception, or colonic obstruction. Gastric outlet obstruction caused by polyps is a rare presentation of PJS.2 Treatment of obstructive polyps in patients with PJS should involve conservative endoscopic management when possible and minimal surgical resection to reduce the risk of short bowel syndrome and other complications.