期刊
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
卷 91, 期 -, 页码 121-123出版社
ELSEVIER IRELAND LTD
DOI: 10.1016/j.ijporl.2016.10.003
关键词
Otology; X-linked stapes gusher syndrome; Genetics; Cochlear implant
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. (C) 2016 Published by Elsevier Ireland Ltd.
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