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Mucopolysaccharidosis Type I (Hurler Syndrome) — RACP Paediatrics MCQ

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HardNeurology & DevelopmentMucopolysaccharidosis Type I (Hurler Syndrome)RACP Paediatrics

A 2-year-old child presents with global developmental delay. He has coarse facial features, hepatosplenomegaly, skeletal dysplasia (dysostosis multiplex on X-ray), and corneal clouding. Urine glycosaminoglycans are elevated. What is the most likely diagnosis?

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Correct answer: B — Hurler syndrome (MPS type I)

Hurler syndrome (MPS type IH) is the most severe mucopolysaccharidosis, caused by alpha-L-iduronidase deficiency. It presents with coarse facies, hepatosplenomegaly, dysostosis multiplex, corneal clouding, developmental regression, and elevated urine GAGs. Hunter syndrome (MPS II) is X-linked and does NOT have corneal clouding (distinguishing feature). Haematopoietic stem cell transplant is the treatment if performed early.

Reference: RACP – 2024 – Paediatric Curriculum: Metabolic Medicine