Cerebrotendinous xanthomatosis revisited.

Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia. © Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.