大前庭水管综合征的诊治-IOS讲课幻灯.pptVIP

*病例特点：家中姐弟二人均为大前庭水管综合征 姐姐：女 10岁 汉 山西省大同市人，患儿3岁时由其父母发现双耳听力不好，只能辨别简单的词语，去医院检查后明确双耳听力下降。患儿无明显外伤史，用药史不详。 弟弟：患儿 男 3岁 汉 山西省大同市人，发现双耳听力下降1个月，对声音反应差，不会说话。父诉患儿1岁半时曾因高烧用过链霉素。无外伤史。 基因检测结果： 先证者：IVS7-2AG纯合突变 姐姐：IVS7-2AG纯合突变 父亲：IVS7-2AG携带者 母亲：IVS7-2AG携带者 例3 IVS/IVS IVS/IVS IVS/- IVS/- 家系患者，前庭水管扩大稳定遗传 * 纯音听力图 声导抗 例3 弟弟的听力学检查 * 双耳阈值90dBnHL 双耳均引出ASNR ABR 40HzAERP 　　　　　　　　 ASSR 弟弟的听力学检查 例3 * 姐姐的听力学检查： 40HzAERP ABR 双耳均引出ASNR，左耳阈值80dBnHL 例3 * 影像学表现 先证者：弟弟 姐姐 例6 EVA-1212 EVA-1216 EVA-1321 EVA-1340 EVA-1788 EVA-1844 EVA-1892 EVA-1903 2004-2006：101个大前庭水管综合征家庭（107例患者） * * 关于大前庭水管综合征的治疗思考？ 采取怎样的治疗方案？ 如何延缓听力减退和进行性发展？ 手术治疗是否可行？ * Can enlarged vestibular aqueducts be treated to reduce hearing loss? No treatment has proven effective in reducing the hearing loss associated with EVA or in slowing its progression. Although some otolaryngologists recommend steroids to treat sudden sensorineural hearing loss, there are no scientific studies to show that this treatment is effective or ineffective when an individual also has EVA. * Can enlarged vestibular aqueducts be treated to reduce hearing loss? In addition, surgery to either drain liquid out of the endolymphatic sac and duct or to remove the endolymphatic sac and duct is not only ineffective in treating EVA, it can be harmful. Research has shown conclusively that these surgeries can destroy hearing. * Can enlarged vestibular aqueducts be treated to reduce hearing loss? To reduce the likelihood of progression of hearing loss, individuals with enlarged vestibular aqueducts should avoid contact sports that might lead to head injury; wear head protection when engaged in activities that might lead to head injury (such as bicycle riding or skiing); and avoid situations that can lea