Cerebrotendinous xanthomatosis – three patients, three faces

Abstract

Background and Aims: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene. This results in a reduced bile acid synthesis and tissue accumulation of cholestanol, causing classical symptoms like tendon xanthomas, chronic diarrhoea, juvenile bilateral cataract and progressive neurological dysfunction. Diagnosis is based on the classical symptoms, elevated levels of cholestanol and bile alcohols and on molecular genetic analysis. Chenodeoxycholic acid (CDCA) is the current standard of care.