先天性双耳镫骨及卵圆窗缺如的诊断和治疗

目的　一家有 2例 (兄妹 )双耳镫骨及卵圆窗缺如 ,对其诊断和治疗进行研讨。方法　通过病史、听力学检查、高分辨CT扫描及 /或手术探查 ,确定诊断 ,采用改良Lempert水平半规管开窗术治疗 2例各一耳。结果　兄语言频率气导听力提高 47dB ,听阈为 2 5dB ;妹提高 52dB ,听阈为 2 8dB ,分别随访 8年及 1年余 ,听力稳定。结论　双耳先天性镫骨和卵圆窗缺如可能与遗传有关 ,骨导尚好 ,骨导曲线有Carhart切迹是诊断此病的重要指征 ,改良Lempert水平半规管开窗术是治疗此病的安全而有效的方法之一。

The diagnosis and treatment of bilateral congenital absence of stapes and oval window in two members of a family

Objective To date, bilateral congenital absence of stapes and oval window in two members (elder brother and younger sister) of a family has not been reported previously in the literature to our knowledge The etiology, diagnosis and management are hereby introduced and discussed Methods The diagnosis was based on history, audiological examinations, high resolution CT scanning and/or the operation The modified Lempert's fenestration operation of the horizontal semicircular canal was performed on one ear each of the elder brother and the younger sister Results Postoperative hearing threshold was 25 dB for speech frequencies with a gain of 47dB for the elder brother, and hearing threshold of 28 dB with a gain of 52 dB for the younger sister Following up one to eight years individually showed that their hearing gains were steady Conclusion Patients' parents are relatives of first cousin and have two sons and one daughter However, there are two family members suffered from bilateral congenital absence of stapes and oval window, and these malformations might be related to inheritance Good bone conduction and Carhart's notches revealed bilaterally in the patients' audiograms. These are the important indications for diagnosis of this disease The modified Lempert's fenestration operation of the horizontal semicircular canal is a safe and good choice for treatment