Cherry red spot，角膜混濁および種々の神経症状を呈した成人例3家系6症例

Occurrence of cherry red spot, corneal clouding and sialidase deficiency in six adults in three families

　Cherry red spot，角膜混濁に加えて，ミオクローヌス，小脳運動失調などの神経症状ならびにGargoyle様顔貌，脊椎の変形，Angiokcratoma等の身体症状を有した，6症例3家系について酵素学的検索を行い，β—galactosidase,sialidase両者の活性の低下を認めた。

We observed 6 adult patients in 3 families who manifested cherry red spot in the macula, corneal clouding, myoclonus, cerebellar ataxia, angiokera-toma and gargoyle faces. The corneal clouding was located in the deep stromal layer. In all the 5 cases who were available for detailed study, we could confirm reduced activity of ,β-galactocidase and neuraminidase in the peripheral leucocytes. The pedigree studies indicated an autosomal reces-sive mode of inheritance for the condition.