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Neuropediatrics 1977; 8(1): 89-100
DOI: 10.1055/s-0028-1091508
Case report

© 1977 by Thieme Medical Publishers, Inc.

Infantile Gaucher's Disease: Neuropathology, Acid Hydrolase Activities and Negative Staining Observations1

M. A. Verity, M. Montasir
  • Department of Pathology (Neuropathology) and Mental Retardation Research Center, University of California, Center for the Health Sciences, Los Angeles, California 90024
1Supported in part by NIH Grants Nos. HD-05615 and HD-04612.
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Publication History

1976

1976

Publication Date:
19 November 2008 (online)

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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.

Keyword

Infantile Gaucher's disease - acid hydrolase activity - tubule isolation - negative staining