Cockayne症候群の1例—20年間にわたる聴力変化

A Case of Cockayne's Syndrome:Evaluation of Hearing of 20 Years

　I．はじめに

　Cockayne症候群は，小人症，精神遅滞，失調，網膜色素変性症，老人様顔貌，頭蓋内石灰化，日光過敏症などの多彩な臨床症状を呈する極めて稀な常染色体劣性遺伝疾患で，1936年Cockayne^1）により最初に報告された。

　難聴は，本症候群の主症状の1つであり，その存在についての報告は少なくないが，その程度や進行についての記載はほとんど認められず，その障害部位については，末梢性とするものと後迷路性とするものとがあり，意見が分かれている。

Hearing changes in a 30-year-old female with confirmed Cockayne's syndrome by means of conventional audiometric procedures for 20 years (from the age of 11 to 30 years) were studied.

At the age of 12 years, a pure tone audio-gram revealed a moderate sensorineural hearing loss in both ears. Her auditory function dete-riorated progressively as she grew older. At the age of 30 years, she lost her hearing completely in the left ear and threshold had changed from 100 to 110 dB HL in the right.

Hearing loss in the present case with Cockayne's syndrome seemed to be not only retrocochlear but also cochlear.