1970 年 2 巻 3 号 p. 335-341
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.