Peutz Jeghers syndrome presenting as intestinal obstruction
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Peutz Jeghers syndrome (PJS) is a very rare autosomal dominant inherited disorder that usually presents as multiple hamartomatous polyps in gastrointestinal (GI) tract and mucocutaneous hyperpigmentation.

A 35-year-old Indian male presented to the general surgery outpatient department with complaints of brown-colored stools since 1 month, pain in lower abdomen, and bleeding per rectum since 1 week. He also complained of colicky type of abdominal pain in the lower abdomen associated with rolling ball-like movement typically after 2 to 3 h of food intake followed by vomiting since 1 week. The pain slightly relieved after medication. He had been experiencing constipation on and off since 15 years.

No mucocutaneous hyperpigmentation was found on lips, buccal mucosa, hands, or feet. All the vitals were found to be normal. On local abdominal examination, visible peristalsis was noticed. Tenderness was present around umbilicus and right iliac fossa on palpation. Resonant note was heard all over the abdomen with no evidence of free fluid on percussion. Increased bowel sounds were noticed during auscultation. All the findings of per-rectal examination were normal. Thus, a provisional diagnosis of intestinal obstruction was made. Abdominal ultrasound showed a typical target sign indicating ileocolic intussusception and intussusceptum demonstrating hypervascularity. It also revealed mesenteric lymphadenopathy.

Contrast Enhanced Computed Tomography (CECT) of the abdomen showed ileocolic intussusception with a lobulated and significantly enhancing mass, likely carcinoid or polyp, in the lumen of ascending colon as lead point resulting in small bowel obstruction and multiple polyps in small and large bowel. Sigmoidoscopy revealed colonic polyposis and a colonic polyp biopsy diagnosed them as hamartomatous polyps. Cholelithiasis was an additional finding in the CECT of the abdomen. Clinical diagnosis was made as multiple intestinal polyposis with ileocolic intussusception and small bowel obstruction.

Source: MAMC journal of medical sciences

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