LATE-ONSET GLOBOID-CELL LEUKODYSTROPHY (KRABBES 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 visu al failure and severe central pyramidal and extrapyramidal motor disab ility with spasticity, dystonia, ataxia and peripheral neuropathy. Vis ual 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 o f age revealed white matter lesions, and nerve conduction velocity exa minations showed a slowly developing polyneuropathy. Galactosylceramid ase activity was reduced in leukocytes to 0.07 mu kat/kg protein compa red with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.