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AN AUTOPSY CASE WITH GENERALIZED SEIZURES, MYOCLONUS, BLINDNESS AND DEAFNESS Yasuhiro Kawasaki 1 , Katsuji Kodayashi 1 , Yuken Fukutani 1,2 , Michio Suzukin 1,3 , Ichiro Nakamura 1 , Masayoshi Kurachi 4 , Akitaka Nonomura 5 1Department of Neuropsychiatry, Kanazawa University School of Medicine 2Division of Neuropsychiatry, National Sanatorium Hokuriku Hospital 3Division of Neuropsychiatry, Takaoka Municipal Hospital 4Department of Neuropsychiatry, Faculty of Medicine, Toyama Medical & Pharmaceutical University 5Pathology Section, Kanazawa University Hospital Keyword: mitochondrial encephalomyopathy , MELAD , neuropathology , electron microscopy , immunohistochemistry pp.533-538
Published Date 1990/6/1
DOI https://doi.org/10.11477/mf.1406900061
  • Abstract
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We have reported the clinical and autopsy findings in a case with generalized seizures, myoclonus, blindness and deafness which was accompanied by stroke-like episodes. This case was diagnosed as mitochondrial encephalomyopa-thy, lactic acidosis & stroke-like episodes (MELAS) from these findings. Solitary and continuous lesions of softening were distributed in both hemispheres, more severely in the frontal and occipital poles. These lesions did not correspond to a vascular supply. The pulvinar, lateral and medial geniculate body of the thalamus, cerebellar vermis and dentate nucleus had small lesions of softening. The cortical lesions occurred mainly in layer 4, and the most prominent lesions among them appeared cystic, involving the subcortical white matter, but nerve cells in layer 1 and 2 were preserved. Proliferation of small blood vessels was seen around the softening areas. Electron microscopy revealed increased mitochondria in endothelial cells of these vessels, abnormal dense bodies in skeletal muscle cells and tightly packed mitochondria in choroid plexus epithelial cells. Immunohistochemical study suggested that vimen-tin positive cells were seen around lesions and proliferated vessels are different from those seen in the intact tissues.


Copyright © 1990, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 2185-405X 印刷版ISSN 0006-8969 医学書院

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