儿童大前庭导水管综合征早期综合诊断模式探讨

Children with large vestibular aqueduct syndrome in the early diagnosis of model of integrated

目的:通过对我院18例儿童大前庭导水管综合征病例临床结果分析,了解其发病特点,探索小儿大前庭导水管综合征早期综合诊断的模式。方法:对所有病例行病史询问及常规耳科检查;采用瞬态耳声发射(TEOAE)、听性脑干反应(ABR)、多频稳态反应(ASSR)检查畸变产物耳声发射(DPOAE)检查、声导抗等多种客观听力测试相结合的方法进行听力评估;应用0.5～0.8 mm薄层CT进行颞骨扫描;部分病例运用直接测序对突变热点SLC26A4 IVS7-2A>G进行筛查。结果:18例中男13例,女5例,其中单侧发病3例,双侧发病15例;平均确诊年龄为25.4月;听力结果显示:轻度听力损伤1耳,占总数的2.78%(1/36),中度听力损伤1耳,占总数的2.78%(1/36),中重度听力损伤9耳,占总数的25%(9/34),重度听力损伤7耳,占总数的19.44%(7/36),极重度力损伤18耳,占总数的50.0%(18/36);听性脑干反应(ABR)特征性的声诱发短潜伏期负反应出现8耳,占总数的22.22%(8/36);CT结果显示:符合前庭导水管扩大CT诊断标准33耳,异常率高达91.67%(33/36);热点突变SLC26A4 IVS7-2A>G基因筛查7例,发现热点突变6例,阳性率85.71%(6/7)。结论:应用常规病史调查及CT检查大前庭导水管确诊年龄为25.4月龄,而应用儿童早期听力与热点突变SLC26A4 IVS7-2A>G联合筛查、高分辨率颞骨薄层CT扫描相结合的方法,可将确诊年龄提前至1个月,两者具有显著差异,对小儿大前庭导水管综合征早期发现、早诊断、早预防具有重要意义。

Objective：Analysis of clinical results on 18 patients with large vestibular aqueduct syndrome in children,to understand their disease characteristics of children with large vestibular aqueduct syndrome,and to explore a comprehensive diagnosis of the early models.Methods：Of all cases underwent routine ear examination and history taking.Transient otoacoustic emissions（TEOAE）,auditory brainstem response（ABR）,multi-frequency steady-state response（ASSR） were used to check distortion product otoacoustic emissions（DPOAE） inspection,acoustic immittance hearing test a variety of objective method of combining for the hearing assessment.Thin CT of 0.5～0.8 mm was used to scan temporal bone.Some cases the use of direct sequencing of the mutation Hot spot SLC26A4 IVS7-2AG screening.Results：18 cases in 13 males and 5 females,of which 3 cases of unilateral disease,bilateral disease in 15 cases.The average age of diagnosis was 25.4 months.Hearing test results showed： mild hearing loss in one ear,accounting for 2.78%（1/36）,moderate hearing loss one ear,accounting for 2.78%（1/36）,moderate to severe hearing loss in nine ears,accounting for 25%（9/34）,seven ears with severe hearing impairment,accounting for 19.44%（7/36）,very severe edge damage 18 ears,accounting for 50.0%（18/36）.Auditory brainstem response（ABR） characteristic evoked short latency negative response occurred in 8 ears,accounting for 22.22%（8/36）.CT scan results showed： in line with vestibular aqueduct CT diagnostic criteria 33 ears,abnormal rate of 91.67%（33/36）;hot spot mutation in SLC26A4 IVS7-2A G genetic screening in 7 cases,6 cases were found hot spot mutations,the positive rate of 85.71%（6/7）.Conclusion：Using the conventional medical history and CT examination diagnosed with large vestibular aqueduct age of 25.4 months of age, while the application of early childhood hearing with the hotspot mutation in SLC26A4 IVS7-2AG combined screening,high-resolution temporal bone CT scan of combining thin-layer method,which can be diagnosed early age to a month,two significant differences between pairs of children with large vestibular aqueduct syndrome, early detection,early diagnosis and early prevention of great significance.