Cerebrotendinous xanthomatosis revisited

Pract Neurol. 2021 Jun;21(3):243-245. doi: 10.1136/practneurol-2020-002895. Epub 2021 Apr 14.

Abstract

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.

Keywords: MRI; cerebellar ataxia; cerebrotendinous xan.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cataract*
  • Female
  • Humans
  • Spinocerebellar Degenerations*
  • Xanthomatosis*
  • Xanthomatosis, Cerebrotendinous* / complications