Juvenile polyposis syndrome presenting as intussusception in a malnourished child: a case report

Abstract

We report a rare case of juvenile polyposis syndrome (JPS) in a 5 year old girl who was admitted into the emergency room on account of acute intestinal obstruction secondary to ileo-colic intussusception. Prior to the admission, she has had repeated blood transfusion in the referring hospital following anaemia due to long standing rectal bleeding with malnutrition. The obstruction was relieved following ileocolectomy. Examination of the sample showed innumerable carpet-like polyps and 18 pedunculated polyps in the ascending and transverse colon. All the polyps have microscopic features consistent with juvenile polyps with no evidence of atypia. She was discharged a week after surgery and follow-up at outpatient clinic showed sustained clinical improvement. We discuss management challenges and follow-up plan in this patient with juvenile polyposis syndrome in view of its associated risk of gastrointestinal carcinoma as well as screening of the other family members for mutations linked to JPS.

Keywords: Juvenile polyposis, intussusception, anaemia, colon, mutation