[Isolated spastic paraparesis disclosing Krabbe disease in adult age]

Rev Neurol (Paris). 1997 Jun;153(5):347-50.
[Article in French]

Abstract

A 25-year-old woman developed a slowly progressive spastic paraparesis a few weeks after delivering of her first child. A cerebral MRI showed bilateral areas of hyperintensity in T-2 weighted images in the centrum semi-ovale, internal capsule, midbrain and occipital white matter. A profound deficiency of galactosyl/ceramidase activity was demonstrated in leukocytes (< 5 p. 100 of controls) and in cultured fibroblasts. The diagnosis of the adult form of Krabbe's disease was thus retained. We summarize the clinical symptoms and neuroradiological signs of this disorder and discuss the causative factors of its clinical heterogeneity.

Publication types

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

MeSH terms

  • Adult
  • Female
  • Galactosylceramidase / genetics
  • Humans
  • Leukodystrophy, Globoid Cell / complications*
  • Leukodystrophy, Globoid Cell / diagnosis
  • Leukodystrophy, Globoid Cell / genetics
  • Mutation
  • Paraparesis, Tropical Spastic / etiology*

Substances

  • Galactosylceramidase