Late-onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases.
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.
Kolodny
E H
EH
Eunice Kennedy Shriver Center for Mental Retardation, Inc., Waltham, Mass.
Raghavan
S
S
Krivit
W
W
D000293:Adolescent; D000328:Adult; D016026:Bone Marrow Transplantation; D001921:Brain / Q000473:pathology; D002478:Cells, Cultured; D002675:Child, Preschool; D003241:Consanguinity; D004200:Diseases in Twins; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005698:Galactosylceramidase / Q000172:deficiency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007962:Leukocytes / Q000201:enzymology; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D014430:Twins, Monozygotic
D005698:Galactosylceramidase