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Adrenoleukodystrophy — RACP Paediatrics MCQ

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HardNeurology & DevelopmentAdrenoleukodystrophyRACP Paediatrics

An 8-year-old boy presents with centripetal (proximal) weakness, declining school performance, and behavioural changes over 6 months. MRI brain shows symmetrical white matter changes in the parieto-occipital regions. Plasma very long chain fatty acids (VLCFAs) are markedly elevated. What is the most likely diagnosis?

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Correct answer: A — Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD) typically presents in boys aged 4–10 years with behavioural and cognitive decline, visual impairment, and progressive spastic paraplegia. Posterior-predominant white matter changes on MRI and elevated VLCFAs are diagnostic. Haematopoietic stem cell transplant may be beneficial if performed early in the cerebral form. Adrenal function should be assessed.

Reference: RACP – 2024 – Paediatric Curriculum: Neurometabolic Disorders