磁共振内耳三维重建在Ⅱ型Waardenburg综合征患者中的应用

Cranium Nuclear Magnetic Resonance Three-Dimensional Reconstruction of Inner Ear in Patients with Waardenburg Syndrome Type Ⅱ

齐佳;邱建新;余德志;

1:安徽医科大学第一附属医院耳鼻咽喉头颈外科

摘要
目的探讨磁共振内耳三维重建在Ⅱ型Waardenburg综合征中的应用。方法回顾性分析2008~2011年期间行人工耳蜗植入术的6例Ⅱ型Waardenburg综合征患儿术前磁共振内耳三维重建影像学检查结果,观察内耳的发育情况及人工耳蜗植入效果。结果 2例内耳无明显异常,4例有半规管畸形,3例有耳蜗畸形,术中均顺利植入全部电极,术后均顺利开机,听觉和言语水平明显提高。结论术前磁共振内耳三维重建影像学检查可清晰显示Ⅱ型Waardenburg患者的前庭、半规管及耳蜗情况,为内耳畸形特别是耳蜗畸形患者的人工耳蜗植入手术提供指导。
关键词
人工耳蜗植入术;瓦登伯格综合征;头颅核磁共振;内耳三维重建
基金项目(Foundation):
安徽省教育厅基金(KJ20011B120)资助
作者
齐佳;邱建新;余德志;
参考文献

1冯晓华,钱宇虹,陈浩,等.Waardenburg综合征Ⅱ型的人工耳蜗植入[J].南方医科大学学报,2008,28:1 929.

2 Cullen RD,Zdanski C,Brown C,et al.Cochtear implants in Waar-denburg syndrome[J].Laryngoscope,2006,116:1 273.

3 Yokoyama S,Takeda K,Shibahara S.Functional difference of the SOX10mutant proteins responsible for the phenotypic var-iability in auditory-pigmentary disorders[J].J Biochem,2006,140:491.

4 Toriello HV,Reardon W,Gorlin RJ.Hereditary hearing loss and its syndromes[M].2nd Ed.Oxford:Oxford University Press,2004.582~591.

5 Farrer LA,Grundfast KM,Amos J,et al.Waardenburg syn-drome(WS)type I is caused by defects atmultiple loci,one of which is near ALPP on chromosome 2:first report of the WS consortium[J].Am J Hum Genet,1992,50:902.

6万良财,郭梦和,陈帅君,等.人工耳蜗植入在Waardenburg综合征Ⅱ型患儿中的应用[J].临床耳鼻咽喉头颈外科杂志,2010,24:436.

7 Migirov L,Henkin Y,Hildesheimer M,et al.Cochlear implan-tation in Waardenburg’s syndrome[J].Acta Otolaryngol,2005,125:713.