Cerebrotendinous xanthomatosis revealed in drug-resistant epilepsy diagnostic workup

Am J Med Sci. 2012 Apr;343(4):332-3. doi: 10.1097/MAJ.0b013e31823cf6d8.


Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic accumulation in multiple tissues. Progressive neuropsychiatric disturbances are a frequent manifestation of this disease. Although seizures have been frequently noticed as part of CTX manifestations, there have not been reports of CTX being diagnosed in drug-resistant epilepsy diagnostic workup nor of seizure response to chenodeoxycholic acid treatment. Here, the authors present a case of a drug-resistant epilepsy patient with a complex phenotype where a diagnosis of CTX was done and showed a significant reduction in seizure frequency after chenodeoxycholic acid supplementation. This report illustrates the importance of considering treatable neurometabolic disorders in epileptic patients showing complex phenotypes.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Diagnosis, Differential
  • Epilepsy / complications
  • Epilepsy / diagnosis*
  • Epilepsy / genetics*
  • Humans
  • Male
  • Xanthomatosis, Cerebrotendinous / complications
  • Xanthomatosis, Cerebrotendinous / diagnosis*
  • Xanthomatosis, Cerebrotendinous / genetics*