Galactosylceramide lipidosis: Novel presentation as a slowly progressive spinocerebellar degeneration
- 1 November 1984
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 16 (5), 618-620
- https://doi.org/10.1002/ana.410160515
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.Keywords
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