Clinical Diagnosis Of Targe Vestibular Aqueduct Syndrome And Cochlear Intervention

Objective Large vestibular conduit syndrome in vestibule conduit enlargement withchromatic sensorineural deafness characterized by a kind of syndrome type deafness, isautosomal recessive inheritance disease. In order to series study the clinical features of LVAS,diagnosis, gene mutation detection and cochlear implant intervention effect,409cases ofclinical diagnosed with severe sensorineural deafness, audiology, imaging in patients withclinical data and testing results of gene chip were analyzed, and to explore the clinicaldiagnosis of LVAS and genetic characteristics, and based on which four of cochlearimplantation in patients with preoperative and postoperative observation to analyze thecochlear implant intervention effect on patients with LVAS.Methods409cases of sensorineural deafness patients from January2010to January2013in the first hospital of jilin university otolaryngology-head and neck surgerydepartment.3ml of peripheral blood were collected and DNA extracted for deafness genechip detection of SLC26A4gene in Chinese with two IVS7hot spot mutations-2a and2168a> G> G, at the same time, application of DNA sequencing method to test negative samplein chip and positive imaging diagnosis for patients with LVAS.4deafen children withcochlear implants of LVAS, collection of preoperative and postoperative imaging,audiology test data for comparison and analysis.Results Of409patients tested children, deafness gene mutation in142patients,positive SLC26A4gene mutations detected61cases, accounting for42.96%of deafness genemutation positive children. In41patients with high-resolution temporal bone CT diagnosis ofLVAS and ABR test47ears of82patients with ASNR ear appear positive,35ears ASNRappear negative, and ASNR positive rate was57.3%.4patients with LVAS role of cochlearimplantation.Conclusions Large vestibular conduit syndrome through clinical manifestation for unilateral or bilateral progressive, fluctuations, sensorineural hearing loss, in combinationwith high-resolution temporal bone CT or MRI confirmed vestibular pipes, can detect withdeafness gene chip SCL26A4gene mutation hot spot to confirm the diagnosis. Syndrome inchildren with large vestibular pipe can be through the cochlear implant to restore hearing.