Clinical analysis of Mondini dysplasia with cerebrospinal fluid leakage and preliminary genetic research of it / 临床耳鼻咽喉头颈外科杂志
Lin chuang er bi yan hou ke za zhi
; (24): 874-877, 2015.
Article
de Zh
| WPRIM
| ID: wpr-747891
Bibliothèque responsable:
WPRO
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.@*METHOD@#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.@*RESULT@#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.@*CONCLUSION@#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.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Anatomopathologie
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Protéines de transport membranaire
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Cochlée
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Fistule
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Fuite de liquide cérébrospinal
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Transporteurs de sulfate
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Génétique
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Hyperplasie
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Méningite
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Mutation
Limites du sujet:
Humans
langue:
Zh
Texte intégral:
Lin chuang er bi yan hou ke za zhi
Année:
2015
Type:
Article