Zhao Zhibin, Zhu Yuanping, Fu Yifei, Jiang Hongyan
Department of Otolaryngology Head and Neck Surgery，Hainan General Hospital，Hainan Affiliated Hospital of Hainan Medical University，Haikou，570311，China.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Oct;36(10):736-740. doi: 10.13201/j.issn.2096-7993.2022.10.002.
To explore the correlation between high-resolution computed tomography（HRCT） of temporal bones, gene mutation and hearing loss in patients with enlarged vestibular aqueduct（EVA）. The medical records of 257 subjects hospitalized for moderate to severe sensorineural hearing loss in the Department of Otolaryngology Head and Neck Surgery, Hainan General Hospital between May 2018 to 2021 were retrospectively reviewed. All included cases received audiological examination, HRCT scanning of temporal bones and gene sequencing. According to the Valvassori standard, cases with the diameter from the common peduncle of the semicircular canal to the midpoint of the outer orifice of the vestibular aqueduct（MP） over 1.5 mm, or the diameter of the outer orifice of the vestibular aqueduct（OP） more than 2.0 mm were diagnosed as EVA. There were 22 cases（44 ears） of EVA in the study, aged between 6 months to 17 years old. Based on the hearing changes at birth and during growth, 18 ears of which were classified into the stable hearing group, while the other 26 ears in the unstable group. Moreover, all involved cases were grouped by MP（1.5 to <3.0 mm and ≥3.0 mm） and OP（2.0 to <4.0 mm and ≥4.0 mm）. SPSS 25.0 software was applied in the study. The correlation between hearing loss and MP and OP was analyzed. The results of HRCT of temporal bones and gene sequencing were compared as well. Though the size of MP and OP was not statistically different between the stable and hearing groups in EVA ears（>0.05）, it was significantly correlated with the severity of hearing loss（<0.05）. Of the 22 EVA patients diagnosed by HRCT, 21 were positive for gene mutation. The positive rate of EVA by gene sequencing was highly consistent with HRCT（Kappa=0.975）. The size of MP and OP in EVA patients was related to the degree of hearing loss, but not to the stable nature of hearing loss. Temporal bone HRCT scanning and gene sequencing are highly consistent in the diagnosis of EVA. The latter has no radiation and can be combined with hearing screening for early diagnosis of EVA.
探讨大前庭导水管综合征（EVA）患者颞骨高分辨率计算机断层扫描（HRCT）、基因突变与听力损失之间的相关性。回顾性分析2018年5月至2021年期间在海南医学院第一附属医院耳鼻咽喉头颈外科住院治疗的257例中重度感音神经性听力损失患者的病历资料。所有纳入病例均接受了听力学检查、颞骨HRCT扫描及基因测序。根据瓦尔瓦索里标准，半规管总脚至前庭导水管外口中点（MP）直径超过1.5mm，或前庭导水管外口（OP）直径超过2.0mm的病例诊断为EVA。本研究中EVA患者22例（44耳），年龄6个月至17岁。根据出生及生长过程中的听力变化，其中18耳归入听力稳定组，其余26耳归入听力不稳定组。此外，所有纳入病例按MP（1.5至<3.0mm和≥3.0mm）及OP（2.0至<4.0mm和≥4.0mm）分组。研究应用SPSS 25.0软件，分析听力损失与MP、OP之间的相关性，并比较颞骨HRCT结果与基因测序结果。虽然EVA耳中稳定组与听力组的MP及OP大小差异无统计学意义（>0.05），但与听力损失严重程度显著相关（<0.05）。在HRCT诊断为EVA的22例患者中，21例基因检测呈阳性。基因测序诊断EVA的阳性率与HRCT高度一致（Kappa=0.975）。EVA患者的MP及OP大小与听力损失程度相关，但与听力损失的稳定性无关。颞骨HRCT扫描与基因测序在EVA诊断中高度一致。基因测序无辐射，可联合听力筛查对EVA进行早期诊断。
