Abstract
1) A boy aged 3 years was examined clinically and typical symptoms of Tay-Sachs disease namely, retardarion of mental and physical developments, venous types of seizures, cherry red spot in ocular fundi, decerebrated ridity at the final stage were observed.Activities of lactic dehydrogenase and of amylase in serum were elevated. EEG revealed the.electro-physiological activity was almost silent.2) Histological examination of ihe brain of the patient showed diffuse loss and marked distension of nerve cell were found all over the central nervous system, especially in the cerebrum and in the cerebellum. Abnormal fine structures resembling Membranons Cytoplasmic Bodies (Terry) and Zebra Bodies (Gonatas) were filled in the cytoplasm of nerve cells and gitter cells electron-microscopically.3) The neurochemical analysis of cerebral lipids of the brains of the case and of one another case of T-S disease revealed as follows : a) Abnormally much amount of T-S ganglioside was extracted and isolated both from the cortex and white matter of two brains by column chromatography. T-S ganglioside in case 1 was almost 70% of total ganglioside.b) The fatty acid composition, suger and sphingosine base of the T-S ganglioside isolated were determined by Gas-Liquid-Chromatography. The fatty acid was composed almost of stearic acid (C : 18). The ratio of glucose to galactose was 1 : 1. Sphingosine was C18 sphingosiue, the decrease of cerebroside varied from case to case, and small amount of gluco-kerasin was identified in them.c) The activity of β-galactosidase of the cerebral cortex in case 1 was within normal level.
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