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.


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*


  • POU4F1 protein, human
  • Transcription Factor Brn-3A

Supplementary concepts

  • Progressive hearing loss stapes fixation