Infantile Gaucher's Disease: Neuropathology, Acid Hydrolase Activities and Negative Staining Observations1
- 1 February 1977
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 8 (01) , 89-100
- https://doi.org/10.1055/s-0028-1091508
Abstract
A case of infantile Gaucher's disease with widespread cerebral and cerebellar degenerative changes is presented. Neuropathological features included perivascular Gaucher cell infiltrates accompanied by periadventitial fibrogliosis, focal neuronophagia, Purkinje cell vacuolation and diffuse astro-cytosis of cerebellar white matter, brain stem and spinal paracentral grey matter. Gaucher cell tubules were isolated from formalin fixed material. Negative staining confirmed the appearance of a coiled helical structure, 200—400 Å in diameter composed of microfibrils. A relative deficiency of acid β-glucosidase was found in spleen homogenate accompanied by a considerable increase in acid phosphohydrolase, N-acetylglucosaminidase, β-glucuronidase and β-galactosidase.Keywords
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