婴幼儿大前庭水管综合征误诊1例并文献复习

目的 探讨大前庭水管综合征(large vestibular aqueduct syndrome，LVAS)的发病、临床表现等，避免误诊。方法：对1例确诊为大前庭导水管综合征的13月龄患儿诊疗过程进行回顾性分析。结果：患儿出生后3个月开始辗转多家医院，反复多次检查听性脑干反应(auditory brainstem response audiometry，ABR)及耳声发射(otoacoustic emissions，OAEs)，结果差异较大，6月龄时配助听器，效果不明显，13月龄时经颞骨CT扫描证实为LVAS。结论：LVAS是一种独立的疾病，极易被误诊，临床如遇有波动性和进行性感音神经性聋(sensory noise hearing loss，SNHL)，应及早做颞骨CT扫描或磁共振成像(magnetic resonance imaging，MRI)以明确诊断。

Analysis of 1 Misdiagnosis of Large Vestibular Aqueduct Syndrome in a Baby

Objective:To explore the occurrence,hearing loss and misdiagnosis of the 13-month-old baby with LVAS.Methods:The clinical procedure of diagnosis and treatment of the patient was analyzed retrospectively.Results:The baby began to receive many times of ABR and OAEs when he was just 3-month-old.But there are many differneces in these results.It was no use to give him hearing aids.When he was 13 month old ,it was proved to be LVAT by CT scan.Conclusions:The LVAS was distinct clinical disease characterized by fluctuate and progressive SNHL.And LVAS was easily misdiagnosed.The CT scan or MR image should be done early.