Peutz-Jeghers syndrom: A case report

Abstract

Peutz-Jeghers syndrome (PJS) is an unusual hamartomatous polyposis of the gastro intestinal (GI) tract, with pigmentation around lips and macules on the buccal mucosa. The case of a 28-year-old male with PJS is presented, admitted as acute abdomen. Polyposis of the jejunum was found to be the cause of an invagination. Histologically it was a hamartoma. Four months later the patient was readmitted with symptoms of large bowel obstruction and reoperated. General carcinomatosis of the abdomen was identified. PJS is a rare syndrome inherited in an autosomal dominant pattern. Most patients have recurrent episodes of polyp induced bowel intussusception which requires repeated laparotomies. In addition, these patients have an increased risk of malignant disease in gastrointestinal and also non-gastrointestinal sites. To prevent cancer and short bowel syndrome, aggressive screening is recommended. Upper and lower endoscopy should be performed every two years from 10 years of age. Extra-intestinal surveillance for cancers, including abdominal and pelvic ultrasound, as well as testicular and breast examinations once yearly should be introduced in the second decade of life.