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Adrenoleukodystrophy — SCE Neurology MCQ

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HardNeurogeneticsAdrenoleukodystrophySCE Neurology

A man with adrenal insufficiency develops a slowly progressive spastic paraparesis, sphincter dysfunction and peripheral neuropathy. Very-long-chain fatty acids are raised. Which diagnosis best unifies the findings?

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Correct answer: B — X-linked adrenoleukodystrophy presenting as adult adrenomyeloneuropathy

The best answer is “X-linked adrenoleukodystrophy presenting as adult adrenomyeloneuropathy”. Adrenal failure plus a long-tract and peripheral-nerve syndrome in an adult male is characteristic of ABCD1-related adrenomyeloneuropathy. “Relapsing-remitting multiple sclerosis” is plausible in a different neurological context, but the decisive findings here argue against it. “Metachromatic leukodystrophy” is plausible in a different neurological context, but the decisive findings here argue against it. “Hereditary sensory neuropathy” is plausible in a different neurological context, but the decisive findings here argue against it. “Primary lateral sclerosis” is plausible in a different neurological context, but the decisive findings here argue against it.

Reference: GeneReviews: X-linked adrenoleukodystrophy: https://www.ncbi.nlm.nih.gov/books/NBK1315/