Hunter Syndrome — RACP Paediatrics MCQ

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HardNeurology & DevelopmentHunter SyndromeRACP Paediatrics

A 3-year-old has global delay, seizures, coarse facies, dysostosis multiplex. No corneal clouding. Affected maternal uncle. Inheritance?

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Correct answer: B — X-linked recessive

Hunter syndrome (MPS II) is the only X-linked recessive MPS. Unlike Hurler, does NOT have corneal clouding.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine