Clinical, neurochemical and neuropathological findings on a case of late-infantile Gaucher disease with oculomotor apraxia, progressive myoclonus and prominent bulbar signs are reported. There was a marked increase in glucosylceramide in cerebral cortex and cerebellum; the increase was more in the range of that seen in the Norrbottnian type III than in type II Gaucher disease. Cerebral cortical changes were characterized by a band-like intraparenchymal accumulation of Gaucher cells in lamina IV with an accompanying astrogliosis. In the cerebellum, a focal severe loss of granule cells and a global loss of dentate nucleus neurons was recorded. Milder changes were seen in thalamus and brain stem where perivascular accumulation of Gaucher cells was present in all regions. The cerebral cortical changes resembled those seen in type II Gaucher disease and was much more marked than in the Norrbottnian type III, whereas the changes in the dentate nucleus were more severe than in both type II and type III. The phenotypic variability with different patterns of clinical symptoms and neuropathological changes in neuronopathic Gaucher disease is discussed.
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Supported by grants from the Swedish Medical Research Council (project nos. 00627 and 07121). AKP was at the time of the study a visiting Professor from Baylor College, Houston, TX
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Conradi, N., Kyllerman, M., Månsson, J.-. et al. Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings. Acta Neuropathol 82, 152–157 (1991). https://doi.org/10.1007/BF00293959
- Gaucher disease
- Gaze palsy
- Bulbar signs