A case of late variant form of infantile Krabbe disease with a partial deficiency of galactocerebrosidase.
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.
Okada
S
S
Department of Pediatrics, Osaka University Hospital, Japan.
Kato
T
T
Tanaka
H
H
Takada
K
K
Aramitsu
Y
Y
D002478:Cells, Cultured; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000172:deficiency*; D005698:Galactosylceramidase / Q000172:deficiency*; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology* / Q000503:physiopathology
D005696:Galactosidases; D005698:Galactosylceramidase