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Clinical and histopathological findings of amaurotic family idiocy (late infantile form) ShigeaKi Kondo 1 , Susumu Maeda 1 , Koichiro Shirahashi 1 , Tsutomu Watanuki 2 , Miwako Matsuura 3 , Senichiro Hakomori 4 1Department of Neuro-Psychiatry, School of Medicine, Tohoku Univ. 2Department of Pathology, School of Medicine, Tohoku Univ. 3Department of Ophthalmology, School of Medicine, Tohoku Univ. 4Department of Biochemistry, School of Medicine, Tohoku Univ. pp.771-789
Published Date 1960/8/5
DOI https://doi.org/10.11477/mf.1431901796
  • Abstract
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 A male case of amaurotic family idiocy wasreported.

 Epileptic seizure was first seen at the age of 5years, gradually revealed mental deterioration andhe died at the age of 8 years, and a month. Familial occurance was noted in this case.

 1) According to the clinical features, the juvenileform was postulated, but slight cerebellarataxia and pyramidal disturbance were seen. He was almost blind and had clouding ofvitrous body. Ophthalmologically optic atrophyand the feature similar to degeneratio pig-mentosa retinae sine pigmento were found.

 2) Pathological findings: Atrophy and sclerosisof the brain were observed, prominent in cerebellum. There found Schaffer-Spielemeyer'sfigure in all regions of the brain, especiallyremarkable in frontal-, parietal-, temporal-cortex, diencephalon and cerebellar cortex. Schaffer-Spielmeyer's figure was partially combinedwith ischemic change and incomplete necroticfoci. In cerebellum, loss of granular layer wascharacteristic, and medullated fiber was fairymaintained in granullar layer, composed withalteration and disappearance of nerve fiber.

 3) Histochemically stored material was supposedto be lipids, and biochemically ganglioside (Strandin-fraction) increased 5~6 times of thecontent of the normal brain. Stored materialfound in swollen glial cell showed the samereaction.

 4) Correlation to Niemann-Pick's disease wasdenied from the clinical and histological findings.

 It was thought from the findings describedabove that this case should be belonged to thelate infantile form.


Copyright © 1960, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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