Peutz-Jeghers Syndrome with Synchronous Adenocarcinoma Arising from Ileal Polyps

Abstract

Peutz-Jeghers syndrome is a rare inherited autosomal disease characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. The clinical picture is characterized by repeated episodes of polyp-induced intestinal obstruction, abdominal pain, and bleeding per rectum. Predisposition to both gastrointestinal and nongastrointestinal malignancies is increased in a patient with Peutz-Jeghers syndrome. This is a case report of a 29-year-old male with Peutz-Jeghers syndrome who presented with a complaint of recurrent abdominal pain. CT scan revealed a single obstructing ileal polyp. However, preoperatively, another large ileal polyp with multiple small jejunal polyps was seen. Histopathology of both ileal polyps was identified as a mucinous adenocarcinoma infiltrating up to the serosa. The follow-up endoscopies showed small multiple polyps in the stomach, duodenum, and colon. Histopathology of all endoscopically removed polyps was consistent with the diagnosis of hamartomatous polyps. Very few cases of intestinal intussusception combined with synchronous malignant small intestine polyps have been reported until to date.