Krabbe leukodystrophy. Globoid cell leukodystrophy. Adult form. Galactosylceramidase (galactocerebrosidase beta-galactosidase) deficiency.
Incidence
Very rare. AR disease. A few cases has been reported in adults.
Clinical Characteristics
A few cases has been reported in adults. Symptomatology is extremely variable and includes spinal cerebellar degeneration or peripheral neuropathy. Turazzini et al. (1997) described 2 brothers with adult-onset Krabbe disease. A 39-year-old man presented with a 2-year history of persisting unsteadiness of gait with weakness of the legs. A younger brother, 29 years old, was asymptomatic but showed tetra-hyperreflexia with bilateral ankle clonus. Both brothers showed MRI changes of demyelination in the white matter of the brain, while nerve conduction was completely normal. Both patients showed deficiency of galactosylceramide beta-galactosidase comparable to that found in the infantile form.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-W, EB-F. Slow NCV.