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Peutz-Jeghers syndrome — RACP Paediatrics MCQ

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ModerateGIPeutz-Jeghers syndromeRACP Paediatrics

A 14-year-old presents with recurrent small bowel intussusception. Examination reveals mucocutaneous pigmented macules on the lips and buccal mucosa. Capsule endoscopy shows multiple hamartomatous polyps in the small bowel. What is the most likely diagnosis?

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Correct answer: C — Peutz-Jeghers syndrome

Mucocutaneous melanotic macules (lips, buccal mucosa, fingers) with GI hamartomatous polyps (predominantly small bowel) is Peutz-Jeghers syndrome (STK11/LKB1 mutation, autosomal dominant). Small bowel polyps can cause intussusception and obstruction. There is significantly increased lifetime risk of GI and extra-GI cancers (breast, ovary, pancreas). Surveillance starts in childhood.

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