ISSN:
1432-0533
Keywords:
β-Galactosidase and neuraminidase deficiency
;
Neuronal inclusion bodies
;
Ultrastructure
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary An autopsy case of a Japanese male with familial β-galactosidase and neuraminidase deficiency is reported. The clinical picture was characterized by adult onset, a gargoyle-like face, cerebellar ataxia, myoclonus, convulsions, retinal degeneration and cortical blindness. Histopathologically, most neurons seemed to have become degenerated in the whole cerebral cortex. Moreover, the calcarine cortex appeared spongy with depopulation of nerve cells. Stuffed neurons or neuronal storage changes were found throughout the brain, especially in the motor nuclei of the spinal cord and brain stem. The inclusions in the stuffed neurons revealed various profiles on the electron microscope. They were composed of membranous lamellar and/or multilamellar structures, often accompanying vacuoles and reminiscent of lipofuscin-like profiles.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00691999
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