Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature

J Neurol Sci. 1991 Apr;102(2):225-32. doi: 10.1016/0022-510x(91)90073-g.


We present the clinical and laboratory findings of 8 patients with cerebrotendinous xanthomatosis. The clinical features consisted of a combination of bilateral Achilles tendon xanthomas, cataracts, low intelligence, pyramidal signs, cerebellar signs, convulsions, peripheral neuropathy, foot deformity, cardiovascular disease or atherosclerosis, EEG abnormality, and increased CSF protein. Increased cholesterol was present in the serum, CSF and red cell membrane of all 8 patients. The bile of one patient with late age onset of the disease showed an attenuated production of bile acids and bile alcohols. Three of the 7 had obstruction and/or marked narrowing of the coronary arteries. Data on 136 patients reported throughout the world are reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Achilles Tendon / pathology
  • Adolescent
  • Adult
  • Bile Acids and Salts / metabolism
  • Cataract / genetics*
  • Child
  • Cholestanols / metabolism
  • Cholesterol / blood
  • Female
  • Genes, Recessive
  • Humans
  • Lipid Metabolism, Inborn Errors* / blood
  • Lipid Metabolism, Inborn Errors* / genetics
  • Lipid Metabolism, Inborn Errors* / pathology
  • Male
  • Sterols / metabolism*
  • Xanthomatosis* / blood
  • Xanthomatosis* / genetics
  • Xanthomatosis* / pathology


  • Bile Acids and Salts
  • Cholestanols
  • Sterols
  • Cholesterol