中文摘要：

目的：总结分析伴脑脊液耳鼻漏的Mondini畸形患者的临床特点,并初步探究其分子遗传机制。方法：对我科收治的2例伴脑脊液耳鼻漏的Mondini畸形患者的临床特点进行分析,采集2例外周静脉血样本,提取DNA,采用聚合酶链式反应结合DNA直接测序法进行SLC26A4基因全外显子测序,测序结果运用DNASTAR软件进行分析。结果：2例患者均以复发性脑膜炎就诊,瘘口均位于前庭窗,手术采用经乳突入路颞肌加筋膜加颞肌分层填塞瘘口后患者一次性治愈;2例患者SLC26A4基因全外显子测序均未发现致病突变。结论：反复发作的脑膜炎患者伴有听力障碍应高度警惕本病,颞骨HRCT有助于诊断,手术修补瘘口是有效的治疗方法及预防反复发作脑膜炎的重要策略;单纯Mondini畸形的分子遗传机制有待进一步研究。

英文摘要：

Objective：To summarize and analyze the clinical characteristics of Mondini dysplasia with cerebro- spinal fluid leakage, as well as preliminarily investigate the genetic mechanism of the disease. Method：The clinical data of 2 patients diagnosed as Mondini dysplasia with cerebrospinal fluid leakage treated in our hospital were ana- lyzed. Blood samples of these two patients were obtained to extract DNA. We screened DNA samples for gene SLC26A4 mutations hy using polyrnerase ehair reactiov, and direct sequencing. The seqeneip, g results were ana- lyzed in DNASTAR software. Result：Both patients eame to our hospital because of recurrent meningitis, and the fistula were both located in vestibular window. Patients were cured one-time after surgical closure of the leakages with temporalis-Ftemporalis fascia q-temporalis through the mastoid approach. No pathogenic mutations of gene SLC26A4 with exome sequencing were found. Conclusion： Mondini dysplasia with cerebrospinal fluid leakage should he considered in patients with recurrent meningitis and hearing disorder. Temporal bone HRCT is helpful to the diagnosis. Surgical closure is an effective therapeutic method and may prevent recurrent meningitis. The molecular mechanism of simple Mondini dysplasia needs further study.