Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.
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.
Arvidsson
J
J
Department of Pediatrics, County Hospital of Jönköping, Sweden.
Hagberg
B
B
Månsson
J E
JE
Svennerholm
L
L
D000328:Adult; D017668:Age of Onset; D004827:Epilepsy / Q000209:etiology; D005500:Follow-Up Studies; D005698:Galactosylceramidase / Q000097:blood; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000150:complications / Q000000981:diagnostic imaging / Q000201:enzymology; D008297:Male; D004856:Postural Balance; D013548:Sweden; D014057:Tomography, X-Ray Computed; D014786:Vision Disorders / Q000209:etiology
D005698:Galactosylceramidase