Metachromatic Leukodystrophy — RACP Paediatrics MCQ

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HardNeurology & DevelopmentMetachromatic LeukodystrophyRACP Paediatrics

A 2-year-old loses ability to walk, develops spastic paraplegia, optic atrophy. MRI shows frontal white matter changes. Arylsulfatase A deficient. Diagnosis?

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Correct answer: A — Metachromatic leukodystrophy

MLD: arylsulfatase A deficiency, progressive motor regression, frontal white matter changes.

Reference: RACP – 2024 – Paediatric Curriculum: Neurometabolic Disorders