Galactosylceramide lipidosis: novel presentation as a slowly progressive spinocerebellar degeneration

Ann Neurol. 1984 Nov;16(5):618-20. doi: 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cerebellar Ataxia / etiology*
  • Female
  • Humans
  • Inclusion Bodies / ultrastructure
  • Leukodystrophy, Globoid Cell / complications*
  • Leukodystrophy, Globoid Cell / pathology
  • Myelin Sheath / ultrastructure
  • Peripheral Nerves / ultrastructure
  • Schwann Cells / ultrastructure
  • Spinal Cord Diseases / etiology*
  • Syndrome