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

Jacob L Wester; Catherine Merna; Kevin A Peng; Rebecca Lewis; Ali R Sepahdari; Gail Ishiyama; Kumiko Hosokawa; Kozo Kumakawa; Akira Ishiyama

doi:10.1016/j.ijporl.2016.10.003

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

Int J Pediatr Otorhinolaryngol. 2016 Dec:91:121-123. doi: 10.1016/j.ijporl.2016.10.003. Epub 2016 Oct 6.

Authors

Jacob L Wester¹, Catherine Merna¹, Kevin A Peng¹, Rebecca Lewis², Ali R Sepahdari³, Gail Ishiyama⁴, Kumiko Hosokawa⁵, Kozo Kumakawa⁶, Akira Ishiyama⁷

Affiliations

¹ Department of Head and Neck Surgery, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
² Department of Audiology and Speech Pathology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
³ Department of Radiological Sciences, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
⁴ Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
⁵ Department of Otolaryngology, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
⁶ Department of Otolaryngology, Toranomon Hospital, Minato-ku, Tokyo, Japan.
⁷ Department of Head and Neck Surgery, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA. Electronic address: ishiyama@ucla.edu.

PMID: 27863625
DOI: 10.1016/j.ijporl.2016.10.003

Abstract

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.

Keywords: Cochlear implant; Genetics; Otology; X-linked stapes gusher syndrome.

Publication types

Case Reports

MeSH terms

Child
Cochlear Implants / adverse effects*
Ear Canal / abnormalities
Electric Stimulation / adverse effects*
Facial Nerve*
Genetic Diseases, X-Linked / genetics*
Hearing Loss, Conductive / genetics*
Hearing Loss, Sensorineural / genetics*
Humans
Male
Mutation
Transcription Factor Brn-3A / genetics*

Substances

POU4F1 protein, human
Transcription Factor Brn-3A

Supplementary concepts

Progressive hearing loss stapes fixation