Cerebrotendinous xanthomatosis: a treatable neurodegenerative disease

J Assoc Physicians India. 2009 Oct:57:716-7.

Abstract

Cerebrotendinous xanthomatosis is one of the rare forms of treatable hereditary neurodegenerative disorders. It is due to a defect in hydroxylation of cholesterol side chain that impairs oxidative cleavage of cholesterol leading to excess accumulation of cholesterol. Here we present such a case which presented to us with recurrent generalized tonic clonic seizures. He is under treatment for the same and has not neurologically deteriorated since then.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anticonvulsants / therapeutic use
  • Carbamazepine / therapeutic use
  • Chenodeoxycholic Acid / therapeutic use
  • GABA Agents / therapeutic use
  • Gastrointestinal Agents / therapeutic use
  • Humans
  • Male
  • Valproic Acid / therapeutic use
  • Xanthomatosis, Cerebrotendinous / diagnosis*
  • Xanthomatosis, Cerebrotendinous / drug therapy
  • Xanthomatosis, Cerebrotendinous / pathology

Substances

  • Anticonvulsants
  • GABA Agents
  • Gastrointestinal Agents
  • Chenodeoxycholic Acid
  • Carbamazepine
  • Valproic Acid