摘要
1病例报告患儿,男,1岁。患儿出生后听力筛查未通过,6月龄经听力检查诊断为双侧极重度感音神经性聋(sensorineural hearing loss,SNHL),7月龄开始右耳佩戴助听器,1岁因语言发育迟缓来我院行人工耳蜗(CI)植入手术。患儿出生时无窒息等异常,既往无脑膜炎、耳外伤、耳毒性药物应用史,无耳聋家族史。患儿面部存在内眦赘皮、上睑下垂(图1),可见漏斗胸(图2),皮肤无多发色素沉着。
Noonan syndrome is a multisystem disease with widespread heterogeneity regarding the genetic and clinical characteristics, which can be accompanied by distinctive facial dysmorphism, congenital heart defects, short stature, cryptorchidism, lymphatic malformations, bleeding disorders and skeletal malformations. Some patients have hearing impairment. Noonan syndrome is a rare cause of sensorineural hearing loss. The study describes a Noonan syndrome patient with profound bilateral hearing loss. He received a cochlear implantation successfully. The patient had clinical characteristics of Noonan syndrome, and the diagnosis was confirmed by the detection of pathogenic variants in PTPN11 by whole exome sequencing. According to the authors’ knowledge, this is the first report regarding cochlear implantation in a Noonan syndrome patient in China.
出处
《临床耳鼻咽喉头颈外科杂志》
CSCD
北大核心
2021年第9期839-842,共4页
Journal of Clinical Otorhinolaryngology Head And Neck Surgery
