Cerebrotendinous xanthomatosis in two sisters: case reports and MR imaging

Clin Radiol. 1995 Feb;50(2):117-9. doi: 10.1016/s0009-9260(05)82994-0.

Abstract

Cerebrotendinous xanthomatosis is a rare inherited disorder of bile acid metabolism producing xanthomata and severe, progressive neurological deficits. In spite of the rarity of the condition it is important because it is treatable: the neurological deterioration can be halted and in some cases reversed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Diseases / genetics
  • Brain Diseases / pathology*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Muscular Diseases / genetics
  • Muscular Diseases / pathology*
  • Tendons / pathology*
  • Xanthomatosis / genetics
  • Xanthomatosis / pathology*