Juvenile polyposis syndrome might be misdiagnosed as familial adenomatous polyposis: a case report and literature review.

ABSTRACT:

Background

Juvenile polyposis syndrome (JPS) is a rare disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract, and germline mutations in SMAD4 or BMPR1A. Due to its rarity and complex clinical manifestation, misdiagnosis often occurs in clinical practice.

Case presentation

A 42-year-old man with multiple pedunculated colorectal polyps and concomitant rectal adenocarcinoma was admitted to our hospital. His mother had died of colon cancer. He was diagnosed with familial adenomatous polyposis (FAP) and underwent total proctocolectomy and ileal pouch anal anastomosis. Two polyps were selected for pathological examination. One polyp had cystically dilated glands with slight dysplasia. The other polyp displayed severe dysplasia and was dia

SUBMITTER: Gao XH 

PROVIDER: S-EPMC7268223 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature