Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation

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• 作者：Jacob L. Wester^a ; Catherine Merna^a ; Kevin A. Peng^a ; Rebecca Lewis^b ; Ali R. Sepahdari^c ; Gail Ishiyama^d ; Kumiko Hosokawa^e ; Kozo Kumakawa^f ; Akira Ishiyama^a ; ^{ishiyama@ucla.edu" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Otology ; X-linked stapes gusher syndrome ; Genetics ; Cochlear implant
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：91
• 期：Complete
• 页码：121-123
• 全文大小：623 K

文摘

We report a case of a nine-year-old male who presented with facial nerve stimulation four years after cochlear implantation. Computed tomography was performed revealing a dilated internal auditory meatus and the cochlear implant electrode was found to be protruding into the fallopian canal at the level of the geniculate ganglion. Subsequent genetic analysis demonstrated X-linked deafness type 2 (DFNX2) caused by a novel c.769C > T nucleotide change in the POU domain, class 3, transcription factor 4 gene (POU3F4). Inactivation of electrodes 1 and 19–21 successfully abated facial nerve stimulation.