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Dev Neurosci. 1991;13(4-5):232-9.

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

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1
Eunice Kennedy Shriver Center for Mental Retardation, Inc., Waltham, Mass.

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.

PMID:
1817026
DOI:
10.1159/000112166
[Indexed for MEDLINE]

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