Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration.
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.
D000328:Adult; D002524:Cerebellar Ataxia / Q000209:etiology*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007965:Leukodystrophy, Globoid Cell / Q000150:complications* / Q000473:pathology; D009186:Myelin Sheath / Q000648:ultrastructure; D010525:Peripheral Nerves / Q000648:ultrastructure; D012583:Schwann Cells / Q000648:ultrastructure; D013118:Spinal Cord Diseases / Q000209:etiology*; D013577:Syndrome