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Peutz-Jeghers Syndrome — RACP Adult Medicine MCQ

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HardGeneral Internal MedicinePeutz-Jeghers SyndromeRACP Adult Medicine

A 38-year-old man presents with acute severe colicky abdominal pain, vomiting, and constipation. Abdominal X-ray shows dilated small bowel loops with air-fluid levels. CT shows a transition point in the right iliac fossa with a small bowel mass. He has a history of recurrent abdominal pain and a melanotic rash on his lips. What is the underlying diagnosis?

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Correct answer: C — Crohn's disease

Peutz-Jeghers syndrome (PJS) is an autosomal dominant condition (STK11 mutation) characterised by mucocutaneous melanotic pigmentation (especially lips and buccal mucosa) and hamartomatous polyps throughout the GI tract (predominantly small bowel). Small bowel intussusception causing obstruction is a classic complication. PJS carries significantly increased cancer risk (GI, breast, ovarian, pancreatic, lung) – up to 93% cumulative lifetime cancer risk. Surveillance with upper and lower endoscopy, capsule endoscopy/MR enterography, and organ-specific cancer screening is essential.

Reference: Cancer Council Australia – 2019 – Hereditary Cancer Guidelines