Eight children, including 2 siblings, with infantile onset cerebral leukoencephalopathy and megalencephaly, and mild neurological signs and symptoms, are reported from Free University Hospital, and Academic Medical Center, Amsterdam, The Netherlands. Ataxia and spasticity were slowly progressive, while intellectual functioning was preserved for a few years. MRI showed swelling of supratentorial hemispheral white matter, subcortical cysts, and sparing of corpus callosum and internal capsule. Metabolic studies were negative. [1]
COMMENT. This type of infantile leukoencephalopathy is distinguished from Canavan and Alexander diseases by an MRI showing severe white matter abnormalities which contrasted with a slow clinical progressive course. Lysosomal and other metabolic white matter disorders characterized by megalencephaly were also ruled out biochemically and clinically.
LATE ONSET KRABBE’S DISEASE WITH PRESERVED INTELLECT in a 24-year-old Swedish male patient is reported from the County Hospital of Jonkoping, and the University of Goteborg, Sweden [2]. The disease presented with visual dysfunction at 4 years of age. At 8 years he developed a limp and ataxia and within 6 months he was wheel-chair dependent. Epilepsy began at 14 years. Speech became dysarthric on entering school, but he was able to stay in the mainstream educational system. Leukocyte galactosylceramidase activity was reduced.