Huang Y Y, Yang J
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):848-849. doi: 10.13201/j.issn.1001-1781.2019.09.012.
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 TIMM8A gene of X chromosome. Combined with the patient's medical history, gene detection, audiological manifestations and imaging examination, the final diagnosis was Mohr-Tranebjærg syndrome, bilateral severe sensorineural hearing loss, and auditory neuropathy.
一名4岁男性患者被发现听力和言语发育迟缓，无家族遗传病史。出生时听力筛查未通过。从2岁起，患者对声音和言语反应不佳，但未进行听力学检查。体格检查发现双耳无畸形，鼓膜完整；肌张力正常；视力正常。声导抗显示为A曲线；畸变产物耳声发射显示双耳通过；短声听性脑干反应阈值大于95 dB nHL，骨导大于45 dB nHL；耳蜗电图双侧引出。颞骨CT和内耳道MRI显示耳蜗和内耳无畸形。基因检测表明X染色体上的TIMM8A基因发生突变。结合患者病史、基因检测、听力学表现和影像学检查，最终诊断为莫尔-特拉内伯格综合征、双侧重度感音神经性听力损失和听觉神经病。
