Department of Otorhinolaryngology-Head and Neck Surgery, Beijing Friendship Hospital, 26455Capital Medical University, Beijing, People's Republic of China.
23336LAC+USC Medical Center , Los Angeles, CA, USA.
Ear Nose Throat J. 2021 Jun;100(3_suppl):343S-346S. doi: 10.1177/0145561321996839. Epub 2021 Mar 8.
The bony cochlear nerve canal transmits the cochlear nerve as it passes from the fundus of the internal auditory canal to the cochlea. Stenosis of the cochlear nerve canal, defined as a diameter less than 1.0 mm in transverse diameter, is associated with inner ear anomalies and severe to profound congenital hearing loss. We describe an 11-month-old infant with nonsyndromic congenital sensorineural hearing loss with cochlear nerve canal stenosis. Next-generation sequencing revealed heterozygous mutations in and , encoding for the inner ear proteins myosin heavy chain IIA and IIC. The patient's hearing was rehabilitated with bilateral cochlear implantation.
骨耳蜗神经管在将耳蜗神经从内听道底部传递到耳蜗时穿过。耳蜗神经管狭窄定义为横径小于 1.0 毫米，与内耳异常和严重至极重度先天性听力损失有关。我们描述了一名 11 个月大的婴儿，患有非综合征性先天性感觉神经性听力损失伴耳蜗神经管狭窄。下一代测序显示编码内耳蛋白肌球蛋白重链 IIA 和 IIC 的 和 基因存在杂合突变。该患者的听力通过双侧人工耳蜗植入得到康复。
