Mohr-Tranebj■rg综合征1例及文献复习

One case report of Mohr-Tranebj■rg syndrome

1病例报告患儿,男,4岁。自幼双耳听力和言语发育差,无家族史。患儿出生时听力筛查未通过,自2岁起发现对声反应差,言语发育差,但未进行听力学检查。未曾佩戴过助听器。查体见双耳廓无畸形,双鼓膜完整;肌张力正常;视力正常。

A 4-year-old male patient was found poor development in hearing and speech,without family hereditary history.Hearing screening was failed at birth.From the age of 2,the patient showed poor response to sound and speech,but no audiological examination was carried out.After physical examination,no deformity was found in both ears,and the tympanic membranes were intact;the muscular tension was normal;and the visual acuity was normal.The acoustic immittance showed curve A;DPOAE showed that both ears passed;click ABR threshold was greater than 95 dB nHL,bone conduction was greater than 45 dB nHL;electrocochleogram was bilateral elicited.There were no malformations of cochlea and inner ear showed in temporal bone CT and internal auditory canal MRI.Gene detection indicated a mutation in TIMM8 Agene of X chromosome.Combined with the patient’s medical history,gene detection,audiological manifestations and imaging examination,the final diagnosis was Mohr-Tranebj?rg syndrome,bilateral severe sensorineural hearing loss,and auditory neuropathy.