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Adrenoleukodystrophy — SCE Neurology MCQ

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ModerateNeurogeneticsAdrenoleukodystrophySCE Neurology

A 25-year-old man presents with progressive gait difficulty, lower limb spasticity, and peripheral neuropathy. He has adrenal insufficiency diagnosed at age 10. MRI brain shows symmetric white matter T2 hyperintensity in the posterior periventricular regions and splenium of the corpus callosum. Serum very long chain fatty acids (VLCFAs) are elevated. What is the diagnosis?

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Correct answer: C — Adrenoleukodystrophy

The best answer is “Adrenoleukodystrophy”. Neuromuscular diagnosis combines distribution, reflexes, sensation, electrophysiology, laboratory, antibody, imaging and genetic findings; testing should resolve a live diagnostic or treatment decision rather than repeat established evidence. The alternatives “Multiple sclerosis”, “Metachromatic leukodystrophy”, “Krabbe disease”, “Alexander disease” are clinically adjacent possibilities, but they do not match the defining chronology, localisation, physiology, investigation result or UK management sequence in this stem.

Reference: JNNP specialist neuromuscular literature: https://jnnp.bmj.com/