A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase

Brain Dev. 1988;10(1):45-6. doi: 10.1016/s0387-7604(88)80045-7.

Abstract

A female was diagnosed as a late variant form of infantile Krabbe disease at 1 year and 3 months because of the late onset of regressive clinical course, decreased motor nerve conduction velocities, high cerebrospinal protein concentration and partial deficiency of galactocerebrosidase (15.6%) in the cultured skin fibroblasts. She showed normal development until 8 months when she lost her ability of sitting alone after febrile infection, and died accidentally at 2 years and 4 months. A considerable residual enzyme activity may correlate to the milder clinical course of this case.

Publication types

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

MeSH terms

  • Cells, Cultured
  • Child, Preschool
  • Female
  • Fibroblasts / enzymology
  • Galactosidases / deficiency*
  • Galactosylceramidase / deficiency*
  • Humans
  • Leukodystrophy, Globoid Cell / enzymology*
  • Leukodystrophy, Globoid Cell / physiopathology

Substances

  • Galactosidases
  • Galactosylceramidase