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Juvenile polyposis syndrome — RACP Paediatrics MCQ

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ModerateGIJuvenile polyposis syndromeRACP Paediatrics

A 12-year-old presents with recurrent abdominal pain and GI bleeding. Colonoscopy reveals >10 hamartomatous polyps throughout the colon. His father required colectomy at age 30 for polyposis. What is the most likely diagnosis?

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Correct answer: E — Juvenile polyposis syndrome

More than 5 juvenile (hamartomatous) polyps or any juvenile polyps with a family history of juvenile polyposis defines juvenile polyposis syndrome (JPS). It carries an increased risk of colorectal cancer (~40% lifetime risk). Regular colonoscopic surveillance and polypectomy is recommended. JPS is autosomal dominant (SMAD4 or BMPR1A mutations).

Reference: RACP Paediatric Curriculum – GI/Genetics; RCH Melbourne – 2023