Cerebrotendinous xanthomatosis: a treatable cause of metabolic ataxia

J Assoc Physicians India. 2007 Sep:55:655-7.

Abstract

Cerebrotendinous xanthomatosis is an exceptionally rare condition in Indian subcontinent, however, it is potentially treatable if diagnosed. We present and discuss the clinical presentation and investigations in a case of cerebrotendinous xanthomatosis (CTX).

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ataxia / etiology*
  • Chenodeoxycholic Acid
  • Cholestanol
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Male
  • Xanthomatosis, Cerebrotendinous / complications*
  • Xanthomatosis, Cerebrotendinous / drug therapy

Substances

  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Chenodeoxycholic Acid
  • Cholestanol