Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.

Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.

Arvidsson J; Hagberg B; Mansson JE; Svennerholm L

Acta Paediatrica

1995

Humans; Male; Adult; Follow-Up Studies; Longitudinal Studies; Sweden; Tomography; Age of Onset; X-Ray Computed; Leukodystrophy; Vision Disorders/etiology; Epilepsy/etiology; Galactosylceramidase/blood; Globoid Cell/complications/enzymology/radiography; Musculoskeletal Equilibrium

We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity, dystonia, ataxia and peripheral neuropathy. Visual dysfunction began at 4 years of age, limping and balance problems at 8 years and epilepsy at 14 years of age. Neuroimaging at 15 years of age revealed white matter lesions, and nerve conduction velocity examinations showed a slowly developing polyneuropathy. Galactosylceramidase activity was reduced in leukocytes to 0.07 mu kat/kg protein compared with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.

1995

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