Branchio-oto-renal syndromeの1例

Branchio-Oto-Renal Syndrome―A Case Report―

I．はじめに

　第1，第2鰓弓由来の奇形（耳小骨奇形，耳介奇形，耳瘻孔，側頸部瘻孔，下顎骨形成不全など）に難聴や腎形成不全を合併したものをbranchio-oto-renal dysplasia，腎異常を伴わないものをbranchio-oto dysplasiaとして1975年および1976年にMelnickら^1,2）が疾患概念を提唱した。本邦では1985年，市村ら^3）の発表以来報告が散見される^4～7）。

　最近，本症候群と考えられる1例を経験したので，中耳手術所見，聴力成績を併せて報告する。

　The branchio-oto-renal syndrome（BORS）,defined by Melnick M,et al in 1975,is an autosomal dominant genetic disorder with branchial anomalies involving preauricular pits,cervical fistulas,hearing loss and renal anomalies.

　A 26-year-old girl presented with bilateral preauricular pits,bilateral auricular dysplasia,bilateral cervical fistulae,mixed type of bilateral profound hearing loss and slightly enlarged bilateral renal pelvis with stones. Her parents and only one brother have neither any anomaly nor hearing loss.

　Middle ear surgery revealed a long,completely fixed stapes without the tensor tympani muscle. The stapes surgery using a Schuknecht teflon wire piston of 4.50 mm was not successful for hearing impairment.

　From this result it was concluded that the stapes surgery to BORS produced no good results as to ordinary otosclerosis.