Case Reports
doi: 10.1002/ana.410230315.
Infantile Gaucher's disease: a case with neuronal storage
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- PMID: 2837134
- DOI: 10.1002/ana.410230315
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Case Reports
Infantile Gaucher's disease: a case with neuronal storage
Ann Neurol.
1988 Mar.
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.
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