AN AUTOPSY CASE OF MYOCLONUS EPILEPSY:GAUCHER'S DISEASE

概要

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A twenty-five-years-old man who had no hereditary abnormal trait but had a tendency to luxation of the omo-branchial joints since childhood. Convulsive seizures began to occur at thirteen years, myoclonia at fourteen years and cerebellar symptoms and dementia at about nineteen years, succumed to bronchopneumonia after eleven odd years of illness.Principal pathologic findings were splenomegaly (160 gm) and enlarged mesenteric lymph nodes in both of which Gaucher's cells containing histochemically demonstrable glycolipids were observed to be present.At autopsy gross pathologic examination failed to reveal any significant adverse findings for the brain. Microscopically, nerve cell of the cerebellar dentate nuclei were noted to be considerably defective, hence evidence of regional neuronophagia, and defect of Purkinje's cells was also noted. A histopathologic finding of particular note was vascular changes characterized by conspicuous enlargement and proliferation of adventitial cells which were frequent in the cerebral white matter, amygdaloid nuclei, claustrum and cerebellum. Some of the enlarged adventitial cells bore resemblance to Gaucher's cells and presented histochemical findings suggestive of the presence of glycolipids. Moreover, proliferation of blood vessels was prominent in the amygdaloid nuclei.These findings seems to represent a juvenile form of Gaucher's disease.
久留米大学医学部 The Kurume Medical Journal 編集部の論文