Cerebrotendinous xanthomatosis: clinical and MRI study (a case report)

J Neurol Neurosurg Psychiatry. 1990 Jan;53(1):76-8. doi: 10.1136/jnnp.53.1.76.

Abstract

We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.

Publication types

  • Case Reports

MeSH terms

  • Achilles Tendon* / pathology
  • Adult
  • Brain Diseases, Metabolic / diagnosis*
  • Brain Diseases, Metabolic / genetics
  • Cerebellum / pathology
  • Cholesterol / blood
  • Dementia / diagnosis*
  • Dementia / genetics
  • Female
  • Globus Pallidus / pathology
  • Humans
  • Magnetic Resonance Imaging*
  • Mesencephalon / pathology
  • Xanthomatosis / diagnosis*
  • Xanthomatosis / genetics

Substances

  • Cholesterol