Peutz-Jeghers Syndrome

An 11-year-old boy had generalized abdominal pain followed by nausea and vomiting. He had neither diarrhea nor fever. Examination revealed a flat, diffusely tender abdomen with no palpable masses. Pigmented macules were seen on his lips and buccal mucosa. A partial bowel resection had been performed 5 years ago because of intussusception.

A complete blood cell count showed no abnormalities. An intestinal x-ray study with meglumine revealed a mass that obstructed the small intestine overlying L-5 and the upper sacrum. A transverse ultrasonogram showed an ileal-ileal intussusception caused by a polyp. The nonviable obstructed segment was resected, and the child's postoperative course was uneventful.

This patient has Peutz-Jeghers syndrome, an autosomal dominant hereditary condition with onset in early childhood. Pigmented macules appear on the lips and/or buccal mucosa (and, less commonly, the nose, hands, and feet), and hamartomatous polyps develop in the gastrointestinal tract. These are found between the stomach and the colon, mainly in the small intestine and most commonly in the jejunum. Episodic abdominal pain, melena, and intussusception are frequent complications. Malignancy is uncommon and occurs mainly in the duodenum.

Two of the patient's four siblings, his mother, and his maternal grandfather also have Peutz-Jeghers syndrome. Thus far, only one affected sibling has had a small intussusception that required surgery. Drs Robert P. Blereau, Timothy J. Haley, and Tomas Birriel of Morgan City, La, note that other chronic intestinal polyposis syndromes include juvenile polyposis, familial adenomatous polyposis, and Gardner's syndrome.