難聴を主症状としたKearns-Shy症候群

A Case of Sensorineural Hearing Loss due to Kearns-Shy Syndrome

I．緒言

　難聴を伴う症候群は数多く存在しKearns-Shy症候群もその1例であるがきわめて稀である。今回われわれは突然の難聴の増悪を主訴に来院し，諸検査の結果Kearns-Shy症候群と診断された症例を経験したので報告する。

　A 13-year-old man with Kearns-Shy syndrome was reported in regard to audiometric findings in his clinical course.

　The patient first noted a hearing loss at the age of 12. A pure tone audiometry showed a moderate sensorineural hearing loss in the right ear and a severe sensorineural hearing loss in the left. After 15 months, his right hearing loss was suddenly progressed. Bekesy audiogram showed Jerger's type II pattern and ABR's were difficult to detect. Laboratory examinations revealed elevation of CSF, elevation of serum LH, FSH. Muscle biopsy specimens were taken and studied electron microscopically and it revealed the abnormal mitochondria. Therefore, his sensorineural hearing loss might be depended on the Kearns-Shy syndrome.