Juvenile Polyposis Syndrome in a 16-year-old Girl: a Case Report From a Resource-Limited Setting

Abstract

Background: Juvenile Polyposis Syndrome (JPS) is a rare autosomal dominant disorder characterised by multiple hamartomatous polyps in the gastrointestinal tract. It can lead to complications such as gastrointestinal bleeding, anaemia, bowel obstruction, and an increased risk of malignancy. Management typically requires early diagnosis, genetic evaluation, surgical intervention, and long-term surveillance.

Aim/Objective: To report a case of Juvenile Polyposis Syndrome in a child and document the challenges of diagnosis and management in a resource-limited setting.

Case Report: A 16-year-old girl presented with an 11-year history of rectal bleeding and a 3-year history of a prolapsing rectal mass. She was severely underweight, anaemic, and prepubertal. Examination revealed multiple friable, pedunculated polyps prolapsing from the rectum. A double-contrast barium enema demonstrated diffuse colorectal involvement. In the absence of colonoscopy and genetic testing, surgical planning was guided by intraoperative findings. A total proctocolectomy with temporary ileostomy was performed, followed by ileoanal anastomosis nine months later. Histology confirmed multiple hamartomatous polyps with low-grade dysplasia.

Conclusion: This case highlights the challenges of managing JPS in resource-constrained settings like ours, where the limited diagnostic tools and financial constraints can delay diagnosis and hinder long-term care. Improving awareness and access to appropriate diagnostic and surgical services is key to better outcomes.