内耳Mondini畸形临床分析

Case Study of Mondini Dysplasia

目的探讨内耳Mondini畸形的病因、临床特征、诊断和治疗。方法分析2例Mondini畸形患者的临床资料并复习相关文献。结果 Mondini畸形属于常染色体显性遗传病;主要表现为听力下降,形成脑脊液漏后可伴发反复发作的脑膜炎,单侧畸形者,因对侧听力正常,常就诊于其他科室易漏诊;其诊断需结合病史、听力学及影像学检查;手术修补对脑脊液漏效果好,本文2例术后随访1年余,均未见复发。结论听力下降并反复发作不明原因的脑脊液漏伴脑膜炎者应疑为内耳Mondini畸形,CT与MRI检查是确诊该病的主要依据,对伴发脑脊液耳漏的患者,鼓室探查修补术是目前唯一有效的方法。

Objective To study the etiology,clinical features,diagnose and treatment of the Mondini dysplasia.Methods The clinical information of 2 case was reported and the literatures were also reviewed.Results The disease was a autosomal dominant disorder with deafness as one of the most common clinical symptoms.Because the disease with cerebrospinal fluid leak would occur recurrent meningitis,patients were often difficult to be diagnosed.Especially,if the defect was unilateral,it was frequently unrecognized.The diagnosis of the disease should be based on the history,audiology and imaging.Avoiding teratogenic influence factors were important to prevent the disease occurred.Surgery could effectively repair cerebrospinal fluid leakage.Conclusion The patients with recurrently unclear cerebrospinal fluid leak and meningitis would be suspected.The diagnosis of the disease is mainly based on the examination of the temporal bone CT and MRI.Avoiding nosogenesis,fitting hearing aid or taking cochlear implantation are important means of prevention and cure.To the patients with cerebrospinal fluid leak,a transtympanic closure might be an only effective method.