Abstract
CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) is a rare neurological disease, associated with the c.2452G>A mutation in the ATP1A3 gene. We herein report on the phenotypic and genotypic findings of 3 members of an affected Spanish family and the experience of cochlear implant treatment in the youngest of them, a boy who had experienced sensorineural hearing loss with a pattern of auditory neuropathy for 5 years following an initial encephalitic episode when aged 3 years old with very poor outcome using hearing aids. A cochlear implant trial was performed at age 8 years in order to ameliorate his progressive deterioration in audioverbal skills with very poor discrimination. Results evaluation after an 18 months period using CI showed > 80% discrimination in open contexts.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
