Cockayne's syndromeと思われる1症例

A case regarded as cockayne's syndrome

緒言

　1936年Cockayneは，家族的に発生した網膜萎縮及び難聴等を伴える侏儒の2症例について発表し，これが，従来認められていない全く新しい症候群である事を報告して以来，Neill及びDing-wallやWilkinsも，それと類似の症例を認めており，極く最近MacdonaldらもCockayne'ssyndromeという名のもとに，5人兄弟中3人に発生した例を，詳細な検査所見と共に報告している。

　我々も，網膜色素変性を来して来院した患者で，体格が小さく，難聴も伴つている極めて興味ある1症例を経験したので報告する。

A syndrome of dwarfism with retinal atrophy, deafness and other multiple disturbances of growth was described, just like the original description by Cockayne 24 years ago.

The patient was a man aged 25 years, and his parents were blood-relations. The fea-tures of the syndrome were : a clinical onset about the second year of his life, after a normal infancy, disproportional dwarfism, retinal degeneration with pigmentation, slight deafness, unsteady gait, slight mental deficiency, incomplete right bundle branch block. Physical and psychological investigations to determine the nature of these congenital dis-orders were reported.