Clinical Manifestation of Peutz-Jeghers Syndrome in Children with Gastrointestinal Bleeding: A Case Report

Abstract

The Peutz-Jeghers Syndrome (PJS) is a rare familial disorder with manifestation that varies from asymptomatic to a life-threatening emergency. The PJS is caused by mutations of the tumor suppressor gene STK11 in embryonic cells, which is traditionally characterized by the development of melanotic macules and intestinal polyps. This case is about a boy, five years old, admitted to the emergency unit with a chief complaint of dark-red blood stool, pale appearance, abdominal pain, and nausea. Upon physical examination, there were multiple black spots on the lips and buccal mucosa (melanotic macules). Laboratory findings showed hemoglobin levels of 5.9 g/dL and a hematocrit of 18.7%. Multiple polyps at the fundus, corpus, antral, ileocecal, terminal ileal, transverse colon, sigmoid colon, and rectum were identified from the endoscopy examination. There were signs of upper and lower gastrointestinal bleeding in the pylorus of the stomach and the middle part of the descendent colon from the scintigraphy, respectively.