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Sturge-Weber Syndrome — RACP Paediatrics MCQ

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HardNeurology & DevelopmentSturge-Weber SyndromeRACP Paediatrics

A 3-year-old presents with a facial port-wine stain (naevus flammeus) in the V1 distribution, seizures, and ipsilateral glaucoma. MRI shows leptomeningeal enhancement and underlying cortical calcification. What is the diagnosis?

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Correct answer: B — Sturge-Weber syndrome

Sturge-Weber syndrome is a neurocutaneous disorder with facial port-wine stain (typically V1 distribution), ipsilateral leptomeningeal angiomatosis (causing seizures and contralateral hemiparesis), and ipsilateral glaucoma. It is caused by a somatic mosaic mutation in GNAQ. Seizure control and glaucoma management are the priorities.

Reference: RCH Melbourne – 2024 – Clinical Practice Guidelines: Neurocutaneous Syndromes