Cherry red spotとmyoclonusを呈する若年例について

A case of Sialidosis type II

　角膜混濁，水晶体混濁，cherry red spot，myoclonus, gargoyle様顔貌を有する23歳男性の例を報告した．酵素学的にはβ-galactosidase，α-neuraminidaseの欠損が認められ，結膜生検の電顕所見で結膜固有層の線維芽細胞質内や毛細血管の内皮細胞質内に微細顆粒を中に有する空胞が認められた．

　以上のことから本症例はmucolipidosisの中のsialidosis type IIに含まれると思われた．同時に我が国での眼科領域でのcherry red spotと水晶体混濁を有する若年，成人例の報告の文献的考察を行った．

A 23-year-old male presented with cloudy cornea, punctate lens opacities and cherry red spot in the macula in both eyes. As associated features, he manifested gargoyle face, short neck and myoclonus. Hepatosplenomegaly, hearing loss or angiokeratoma was absent. Reduced activity of betagalactosidase and neuraminidase was detected by examination of lysosomal enzyme in the peripheral leucocytes and fibroblasts. These clinical and biochemical features led to the diagnosis of sialidosis type II as proposed by O'Brien and Lowden. Electron microscopy of biopsied conjunctiva revealed membrane-like cytoplasmic vacuoles containing faint granular materials in the epithelium, fibroblasts and endothelial cells of capil-laries.

Rinsho Ganka (Jpn J Clin Ophthalmol) 41(1) : 63-67, 1987