脳と発達
Online ISSN : 1884-7668
Print ISSN : 0029-0831
ISSN-L : 0029-0831
Tay-Sachs症の3例一特に眼底像の推移, 経過と病理組織所見との対応性について
吉野 良寿沢木 博和中井 愃雄稲名 市郎橋本 重夫五月 女茂中村 俊彦森吉 臣
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1970 年 2 巻 3 号 p. 335-341

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Three cases of Tay-Sachs disease were studied. The onset in Case 1 was at about 6 months of age 10 months general hypotonia with some spasticity in the legs and typical cherry red spots on the maculae were noticed. Light and electron microscopy, together with chemical, studies proved the case to be ge-le ralized lipidosis.
Abnormalities were suspeoted in Case 2 at about 8 months of age. At age 1 year 3 moths, slight touches of light brown colour were noticed on the maculae. They were not symmetrical. Two months later, the spots on the maculae became spherical and of dark brown colour-typical cherry red spots.
Case 3 was a premature baby. Developmen tal delay was obvious. Frequent convulsions commenced at age 7 months. At age 1 year 10 months typical cherry red spots were observed on the maculae. Light microscopic study con firmed cerebral lipidosis.

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