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Alagille syndrome — RACP Paediatrics MCQ

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HardGIAlagille syndromeRACP Paediatrics

A 3-month-old with neonatal cholestasis has characteristic facies with a broad forehead, deep-set eyes, and pointed chin. There is a butterfly vertebral anomaly on spinal X-ray. Echocardiogram shows peripheral pulmonary stenosis. GGT is markedly elevated. What is the most likely diagnosis?

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Correct answer: E — Alagille syndrome

Alagille syndrome (arteriohepatic dysplasia) is characterised by the combination of chronic cholestasis with paucity of intrahepatic bile ducts, characteristic facies, butterfly vertebrae, peripheral pulmonary stenosis, and posterior embryotoxon (eye). It is caused by JAG1 or NOTCH2 mutations (autosomal dominant).

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