Infantile gaucher's disease: A case with neuronal storage

Marjorie Grafe, Carol Thomas, Jerry Schneider, Barrett Katz, Clayton Wiley

Research output: Contribution to journalArticle

25 Scopus citations

Abstract

The brain of a 17‐month‐old boy with infantile Gaucher's disease and oculomotor apraxia was studied by light and electron microscopy. Light microscopic examination showed large perivascular accumulations of Gaucher's cells in frontal lobe white matter, severe neuronal loss in the calcarine cortex and dentate nucleus of the cerebellum, and neuronophagia and microglial nodules in the brainstem. Electron microscopy demonstrated intraneuronal cytoplasmic inclusions containing twisted tubules characteristic of Gaucher's disease in both the oculomotor nucleus and a random sample of cortex.

Original languageEnglish (US)
Pages (from-to)300-303
Number of pages4
JournalAnnals of Neurology
Volume23
Issue number3
DOIs
StatePublished - Mar 1988

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Grafe, M., Thomas, C., Schneider, J., Katz, B., & Wiley, C. (1988). Infantile gaucher's disease: A case with neuronal storage. Annals of Neurology, 23(3), 300-303. https://doi.org/10.1002/ana.410230315