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Mechanical thrombectomy — SCE Neurology MCQ

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HardStrokeMechanical thrombectomySCE Neurology

A 41-year-old has retinitis pigmentosa, anosmia, ichthyosis, sensorineural deafness and a demyelinating neuropathy with ataxia. Which paired test and disease-directed intervention is most appropriate?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: B — Measure plasma phytanic acid; restrict dietary phytanate if elevated

Explanation lettering: E = shown as A · D = shown as B · A = shown as C · C = shown as D · B = shown as E

A targets X-linked adrenoleukodystrophy and proposes an unrelated diet. B confuses cerebrotendinous xanthomatosis with Wilson treatment. C mispairs a peroxisomal marker and riboflavin-responsive transporter disease. D is correct: this phenotype is adult Refsum disease; markedly raised phytanic acid supports the diagnosis, and dietary restriction of phytanic-acid precursors is disease directed, with specialist metabolic input and plasma exchange considered in severe acute deterioration. E does not match the biochemical pathway or treatment.

Reference: A practical approach to enlargement of nerves, plexuses and roots: https://pn.bmj.com/content/15/2/105