Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)

Am J Med Genet. 1996 May 3;63(1):209-17. doi: 10.1002/(SICI)1096-8628(19960503)63:1<209::AID-AJMG37>3.0.CO;2-Q.

Abstract

In the present study the clinical course and imaging of early and late-onset forms of Krabbe disease are analyzed. We report on 11 patients with a biochemical diagnosis of galactosyl ceramide beta-galactoside deficiency. Two presented as the classic infantile form and died within the second year of life. In 9 children the first clinical signs, such as gait difficulties and visual failure, started after age 2 years. All these patients developed slow regression of motor and mental capacities, and most of them died within their first decade. In patients of both groups computed tomography (CT) and magnetic resonance imaging (MRI) were performed. In the late-onset form, hypodensities of the central white matter and pyramidal tracts were the leading radiological signs, whereas in the early-onset form, hyperdensities and cerebellar white matter lesions were also detected. From our results it becomes clear that variability of Krabbe disease refers not only to clinical manifestation but also to CT and MRI findings. Better knowledge of phenotypic and radiological diversity will help to understand the pathogenesis of the disease.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Age of Onset
  • Brain / diagnostic imaging
  • Brain / pathology
  • Child, Preschool
  • Female
  • Galactosylceramides / deficiency
  • Humans
  • Infant
  • Leukodystrophy, Globoid Cell / classification*
  • Leukodystrophy, Globoid Cell / diagnostic imaging
  • Leukodystrophy, Globoid Cell / physiopathology*
  • Magnetic Resonance Imaging
  • Male
  • Spinal Cord / physiopathology
  • Tomography, X-Ray Computed

Substances

  • Galactosylceramides