Cockayne症候群の1剖検例—眼組織所見を中心に

Cockayne's Syndrome : An Histopathological Study of the Ocular Tissue

I．はじめに

　1936年Cockayne^1）によつて，"Dwarfism with re—tinal atrophy and deafness"として紹介せられた本症候群に関する報告例は，現在までわれわれの報告を合わせて17例にすぎない。ことに本邦における定型的症例としては，わずかにわれわれの3例をあげ得るのみである。

　われわれは1965年の臨床眼科学会の遺伝病のグループディスカッションにおいてその詳細を報告し，さらに小児科臨床第19巻5号593頁^2）に発表した。

In the Japanese literature, only three in-stances of Cockayne syndrome are known report-ed by the present authors (Hirooka et al. : J. Clin. Pediatrics, 19 : 593, 1966). The first case of the three as reported above, who was now a 6-year-old male child, died of acute bro-nchopneumonia and was subjected to autopsy studies. Following features comprised cardinal ocular histopathological findings :

1. The whole retinal tissue underwent a mo-derate degeneration.

2. A few atypical big ovarial cells were found in the ganglion cell layer with occasional phagocytosis of pigment at the edge of the cytoplasm.