Galactosylceramide lipidosis: Novel presentation as a slowly progressive spinocerebellar degeneration

Abstract

A 34-year-old woman was initially seen because of a progressive neurological disorder suggestive of a spinocerebellar degeneration. This condition had a late infantile onset and was unassociated with visual impairment or dementia. Nerve conduction velocity was severely reduced. A left hemiparesis later developed. A computed tomographic scan revealed multiple periventricular hypodense lesions, suggestive of a leukodystrophy. Sural nerve biopsy demonstrated changes of a chronic demyelinating neuropathy, with inclusions typical of Krabbe's disease. This diagnosis was confirmed by the finding of reduced leukocyte galactocerebrosidase activity.