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Mental Capacity Assessment – MCA 2005 — SCE Neurology MCQ

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HardNeuropsychiatryMental Capacity Assessment – MCA 2005SCE Neurology

A 44-year-old with childhood cataracts and chronic diarrhoea develops Achilles-tendon xanthomata, cognitive decline and a spastic ataxia. Plasma cholestanol is markedly raised and biallelic CYP27A1 variants are confirmed. Which disease-modifying treatment is most appropriate?

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Correct answer: A — Chenodeoxycholic acid replacement with metabolic monitoring

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

A does not correct sterol 27-hydroxylase deficiency and is not the licensed replacement treatment. B is a related bile-acid strategy but is not the established authorised replacement regimen for CYP27A1-related CTX. C may lower cholesterol but cannot replace the deficient primary bile acid and is not adequate monotherapy. D is correct: chenodeoxycholic acid suppresses abnormal bile-acid synthesis and cholestanol accumulation, with earlier treatment offering the best chance of preventing further neurological damage. E has no established maintenance role in this intracellular metabolic disorder.

Reference: EMA EPAR: chenodeoxycholic acid for cerebrotendinous xanthomatosis: https://www.ema.europa.eu/en/medicines/human/EPAR/chenodeoxycholic-acid-leadiant