Krabbe's disease: clinical presentation of neurological variants.

Abstract

Neurological variants in clinical presentation of Krabbe's disease, the infantile and the late-onset (late infantile-juvenile) types are reviewed. The nosology of the infantile type is discussed on the basis of experiences from eighty Swedish cases in 1953-82 and a penetration of the literature. The classical irritative-hypertonic presentation with onset at three to five months of age is concluded to be the very predominant one (greater than 90%). Neonatal failure-to-thrive, infantile spasms, hemiplegic and prolonged floppy infant presentations are much more rare variants. The latter is believed to constitute a nosologic entity of its own, possibly more connected to the heterogeneous late-onset type (greater than or equal to eighteen months at onset), not observed in Sweden so far. Twenty-four late-onset cases from the literature and one personal Norwegian case are surveyed. It is concluded that the classical infantile type and the late-onset type (types) are different disease entities.