Cherry-red spot-myoclonus syndromeと思われる1例の光学および電子顕微鏡的観察

A light and clcctron microscopic study on the retina of a cherry-red spot-myoclonus syndrome

　Cherry-red spot-myoclonus syndrome （siali-dosis type 1）と思われる12歳男子の網膜の光学および電子顕微鏡的観察を行った。その結果，ガングリオン細胞およびアマクリン細胞の細胞質内に，燐脂質，糖脂質，ムコ多糖などの貯溜を認めた。霜子顕微鏡的には，ガングリオン細胞の細胞質内に，1枚の限界膜で囲まれ，不規則なうず巻状の膜様構造を有する円形ないし楕円形の小体を多数認め，これらはLYLB，MVB，PLB，MCBなどと非常に関連深いものであろうと考えた。

A boy was found to have macular cherry-red spots at the age of 10 years. Punctate opacities in the infantile nucleus of the lens, and paracentral ring scotoma were also found. His face and intellect were normal. Neither hepato-splenomegaly nor bone abnormalities were noted. The activities of β-galac-tosidase, β-glucosidase, β-hexosaminidase and sphin-gomyelinase were within normal range. The activity of neuraminidase was not examined. Con-siderable urinary excretion of sialyloligosaccharides was demonstrated. Myoclonus appeared when he was 12 years old.