title: [Clinical analysis of Mondini dysplasia with cerebrospinal fluid leakage and preliminary genetic research of it].
abstract: OBJECTIVE
  To summarize and analyze the clinical characteristics of Mondini dysplasia with cerebrospinal fluid leakage, as well as preliminarily investigate the genetic mechanism of the disease.
  
  
  METHODS
  The clinical data of 2 patients diagnosed as Mondini dysplasia with cerebrospinal fluid leakage treated in our hospital were analyzed. Blood samples of these two patients were obtained to extract DNA. We screened DNA samples for gene SLC26A4 mutations by using polymerase chain reaction and direct sequencing. The sequencing results were analyzed in DNASTAR software.
  
  
  RESULTS
  Both patients came 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 + temporalis fascia + temporalis through the mastoid approach. No pathogenic mutations of gene SLC26A4 with exome sequencing were found.
  
  
  CONCLUSIONS
  Mondini dysplasia with cerebrospinal fluid leakage should be 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.
authors.forename: Lili
authors.initials: L
authors.lastname: Wang
authors.forename: Yong
authors.initials: Y
authors.lastname: Feng
authors.forename: Zhijie
authors.initials: Z
authors.lastname: Niu
authors.forename: Yuxiang
authors.initials: Y
authors.lastname: Cai
authors.forename: Lingyun
authors.initials: L
authors.lastname: Mei
authors.forename: Chufeng
authors.initials: C
authors.lastname: He
mesh_terms: D065634:Cerebrospinal Fluid Leak / Q000503:physiopathology*; D003051:Cochlea / Q000473:pathology; D005402:Fistula / Q000473:pathology; D006801:Humans; D006965:Hyperplasia / Q000235:genetics* / Q000503:physiopathology; D026901:Membrane Transport Proteins / Q000235:genetics*; D008581:Meningitis / Q000503:physiopathology*; D009154:Mutation; D000076988:Sulfate Transporters
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters