先天性感音神经性聋合并先天性小睑裂综合征的临床诊断及意义  

Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES

作　　者：敖丽颖 刘勇智 

机构地区：[1]内蒙古自治区人民医院耳鼻咽喉科,呼和浩特010010

出　　处：《临床耳鼻咽喉头颈外科杂志》2015年第18期1660-1663,共4页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

摘　　要：1病例报告患儿,女,出生后约8个月时于当地医院确诊为双侧极重度感音神经性聋,未予特殊治疗,于2008年3月起佩戴助听器,听力补偿效果差,言语康复训练效果不理想。为行人工耳蜗植入,于2012年2月21日以＂双侧极重度感音神经性聋＂收入院。患儿母亲妊娠期间无风疹等病毒感染史、无明确耳毒性药物使用史,未行放射性检查。Summary To analyze congenital sensorineural hearing loss combined with blepharophimosis-ptosis-epican- thus inversus syndrome （BPES）. For the case of cochlear implantation to child with congenital sensorineural deaf- ness combined BPES , accomplish routine examination and assessment, combining with literature to analyze the clinical diagnosis of this disease and its significance. Sensorineural hearing loss is a common congenital diseases with neonatal incidence of 1‰~3‰, 50%/~70% of deafness is associated with genetic factors, the incidence of congenital sensorineural hearing loss combined with eye disease is about 40 % ~ 60 %, mainly reflected in ametropia and retinopathy. BPES^s main clinical manifestations is blepharophimosis, ptosis, epicanthus inversus, and tele- canthus. BPES is a rare autosomal dominant disease caused by FOXL 2 gene mutation, sometimes associated with retarded growth, delayed development, congenital heart disease, and microcephaly. Suffering from both sensori- neural hearing loss and BPES is rare in reported literature. This case is diagnosed by clinical examination ,without visual impairment. Facial nerve dysplasia has been found during the surgery. For congenital deafness patients with eye disease or other diseases, timely and correct diagnosis has important clinical significance, which can improve the diagnostic rate and make it coming true to early intervention ,and then, effectively improve the quality of the patients. There are few literature reports of patients with two kinds of genetic diseases. Our inference is that the cases are rare or the patients has visited different departments and ignored the other systems＇ signs. Therefore, in such doubtful cases, we should do the professional comprehensive examination in daily clinical work in order to a- void missed diagnosis or delayed treatment and intervention. By analyzing this case, the patient may also suffer from facial nerve dysplasia. Preoperatively viewing CT scan and operatively facial nerve monitor being used can a-

关 键 词：先天性感音神经性聋 先天性小睑裂综合征 遗传性疾病 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]