Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases

Dev Neurosci. 1991;13(4-5):232-9. doi: 10.1159/000112166.

Abstract

The diagnosis of late-onset variants of Krabbe disease (globoid cell leukodystrophy) has been facilitated by the recognition of galactocerebrosidase deficiency as its biochemical hallmark. Fifteen patients, ages 4-73, are presented. Signs included pes cavus, optic disc pallor, progressive spastic tetraparesis, a sensorimotor demyelinating neuropathy and hypodense lesions in the parieto-occipital periventricular white matter. Although intellect was preserved in more than half the cases, significant intrafamilial variability in mental functioning was encountered in 3 families. Bone marrow transplantation was successful in 1 13-year-old girl, but caused the death of 2 teenage twin sisters.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Bone Marrow Transplantation
  • Brain / pathology
  • Cells, Cultured
  • Child, Preschool
  • Consanguinity
  • Diseases in Twins
  • Female
  • Fibroblasts / enzymology
  • Galactosylceramidase / deficiency
  • Humans
  • Infant
  • Infant, Newborn
  • Leukocytes / enzymology
  • Leukodystrophy, Globoid Cell* / diagnosis
  • Leukodystrophy, Globoid Cell* / genetics
  • Leukodystrophy, Globoid Cell* / pathology
  • Leukodystrophy, Globoid Cell* / surgery
  • Lysosomes / enzymology
  • Male
  • Twins, Monozygotic

Substances

  • Galactosylceramidase