Infantile Gaucher's disease: A case with neuronal storage

Marjorie Grafe, C. Thomas, J. Schneider, B. Katz, C. Wiley

Research output: Contribution to journalArticle

25 Citations (Scopus)

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 neuronaphagia 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
StatePublished - 1988
Externally publishedYes

Fingerprint

Gaucher Disease
Electron Microscopy
Light
Apraxias
Cerebellar Nuclei
Inclusion Bodies
Frontal Lobe
Cerebellum
Brain Stem
Brain
Oculomotor Nuclear Complex
White Matter

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

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.

Infantile Gaucher's disease : A case with neuronal storage. / Grafe, Marjorie; Thomas, C.; Schneider, J.; Katz, B.; Wiley, C.

In: Annals of Neurology, Vol. 23, No. 3, 1988, p. 300-303.

Research output: Contribution to journalArticle

Grafe, M, Thomas, C, Schneider, J, Katz, B & Wiley, C 1988, 'Infantile Gaucher's disease: A case with neuronal storage', Annals of Neurology, vol. 23, no. 3, pp. 300-303.
Grafe M, Thomas C, Schneider J, Katz B, Wiley C. Infantile Gaucher's disease: A case with neuronal storage. Annals of Neurology. 1988;23(3):300-303.
Grafe, Marjorie ; Thomas, C. ; Schneider, J. ; Katz, B. ; Wiley, C. / Infantile Gaucher's disease : A case with neuronal storage. In: Annals of Neurology. 1988 ; Vol. 23, No. 3. pp. 300-303.
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