Cerebrotendinous xanthomatosis: clinical and imaging clues of a rare treatable cause of ataxia

BMJ Case Rep. 2022 Jul 20;15(7):e250714. doi: 10.1136/bcr-2022-250714.
No abstract available

Keywords: Movement disorders (other than Parkinsons); Neuroimaging.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / etiology
  • Chenodeoxycholic Acid / therapeutic use
  • Diagnostic Imaging
  • Humans
  • Magnetic Resonance Imaging / adverse effects
  • Xanthomatosis* / complications
  • Xanthomatosis, Cerebrotendinous* / complications
  • Xanthomatosis, Cerebrotendinous* / diagnostic imaging
  • Xanthomatosis, Cerebrotendinous* / drug therapy

Substances

  • Chenodeoxycholic Acid