Chinese identical twins with cerebrotendinous xanthomatosis: A family report and literature review.

Abstract excerpt

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of cholesterol metabolism, characterised by childhood-onset diarrhoea, juvenile cataracts, tendon xanthomas, and progressive neuropsychiatric symptoms. CTX is caused by mutations in the sterol 27-hydroxylase gene (CYP27A1) and sterol 27-hydroxylase deficiency. CTX is particularly rare in the Chinese population; to the best of our...

Topics

• Female
• Humans
• China
• Cholestanetriol 26-Monooxygenase
• Mutation
• Twins, Monozygotic
• Xanthomatosis, Cerebrotendinous