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

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

E H Kolodny  1 , S Raghavan, W Krivit
Affiliations
Review

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

E H Kolodny et al. Dev Neurosci. 1991.

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.

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