[Peutz-Jeghers syndrome]

Abstract

Objective: To describe the demographic, clinical characteristics and associated diseases in eight patients with the Peutz-Jeghers syndrome seen at the INCMNSZ and literature review.

Setting: National Institute of Health.

Design: Description of eight cases of Peutz-Jeghers syndrome and literature review.

Material and methods: A retrospective review of all the discharge diagnosis was doing between January 1987 to February 2004. The diagnosis of Peutz-Jeghers syndrome was made on clinical and anatomical grounds. The clinical features, follow-up, treatment and last visit clinical status were analyzed in all the patients.

Presentation of cases: Eight patients with the Peutz-Jeghers syndrome were investigated, five women and three men. The median of time at diagnosis was 31 years-old (range, 26-37). All the patients had mucocutaneous pigmentation and hamartomatous polyps. The ileum and large bowel were the most frequent sites of the polyps, and there were generally sessile and pedunculated. The major abdominal symptoms were abdominal pain, GI bleeding, intestinal obstruction, weight loss and intussusception. One case of small-bowel cancer and one of serous cystadenoma of the ovary were detected. Surgical interventions were doing in five patients; the most frequent indication was polyp-induced bowel obstruction. All the patients are alive to date.