von Recklinghausen病を合併した18歳女性の"cherry-red spot"の1例—α—neuraminidase，β—galactosidase欠損症

Macular cherry-red spot in a case with von Recklinghausen disease.: An α-neuraminidasc and β-galactosidase deficiency.

　典型的なcherry-red spotを認めた18歳女性で，軽度の角膜混濁，錐体路障害，失調性歩行，ミオクローヌス発作などを主徴とし，さらにR病を合併したmucolipidosis症例に生化学的分析を行った結果，白血球，培養皮膚線維芽細胞のβ—galactosidase，α—neuraminidaseの特異的欠損が判明したので文献的考察を加えてここに報告した。

A 18-year-old female with von Recklinghausen disease manifested macular cherry-red spots with α-neuraminidase and β-galactosidase deficiencies. The patient showed characteristic coase face (gargoylism), action myoclonus, cerebellar ataxia, slight cloudiness of the cornea and small iris no-dules. Visceromegaly, hearing loss or mucopoly-saccharidosis was absent.

α-neuraminidase deficiency seemed to be the primary enzyme defect in this patient. Enzyme activities in her mother were normal. The enzyme activities of β-galactosidase were deficient in leucocytes and cultured fibroblast sand were normal in the serum.