Noonan综合征人工耳蜗植入患者1例  

A Case Report and Literature Review:Cochlear Implantation in Patient with Noonan Syndrome

作　　者：许木清 蔡洁青 张宏征[1] XU Mu-qing;CAI Jie-qing;ZHANG Hong-zheng

机构地区：[1]南方医科大学珠江医院耳鼻咽喉科,广州510280

出　　处：《中国听力语言康复科学杂志》2024年第6期654-658,共5页Chinese Scientific Journal of Hearing and Speech Rehabilitation

基　　金：国家自然科学基金面上项目(82271156);广东省科技计划项目(2017A020215144)。

摘　　要：目的结合文献分析1例努南综合征(Noonan syndrome,NS)相关性极重度感音神经性聋患儿行人工耳蜗植入手术,为临床提供借鉴。方法报告1例NS相关性极重度感音神经性聋患儿的临床表现、遗传学特点、诊治要点及康复情况,并对文献进行综述。结果通过结合文献分析,发现患儿临床表现典型,早期通过对典型颜面部畸形提高警惕并进行基因检测有助于NS的早期诊断。双耳保留部分残余听力、高频陡降型听力损失适于一侧行人工耳蜗植入,对侧配戴助听器(双模式干预)。围手术期出血及心功能评估是必要的。结论典型颜面部畸形及基因检测是诊断NS的关键;NS不是人工耳蜗植入禁忌症,但术后康复有挑战性。Objective To explore the diagnosis and treatment strategy of a case with profound sensorineural hearing loss associated with Noonan syndrome(NS,Noonan syndrome).Methods The clinical manifestations,genetic characteristics,diagnosis and treatment points,and reorganization and rehabilitation of a child with NS-related SNHL were reported.Results Through the analysis of the literature,it was found that the children had typical clinical manifestation.Early warnings for typical facial and facial deformities and genetic analysis would benefit the diagnosis of NS.It is suitable for cochlear implantation on one ear,and wearing hearing aids on the opposite side in the case of partial residual hearing in both ears,high-frequency steep drop hearing loss.Perioperative evaluation of bleeding tendency and cardiac function is necessary.Surgical rehabilitation training is a challenge.Conclusion Typical facial deformities and genetic testing are the key to early diagnosis.Noonan syndrome is not a contraindication to cochlear implantation,but restoration and rehabilitation are challenging.

关 键 词：努南综合征 听力障碍 人工耳蜗植入 听觉康复 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]