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Rigshospitalet - a part of Copenhagen University Hospital
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Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Auditory verbal habilitation is associated with improved outcome for children with cochlear implant

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Functional Assessment of Variants Associated with Wolfram Syndrome

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Research output: Contribution to journalLetterResearchpeer-review

  4. The Natural History of Hearing Loss in Pendred Syndrome and Non-Syndromic Enlarged Vestibular Aqueduct

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Cochlear implantation hos patienter med Pendred Syndrom

    Research output: Book/ReportPh.D. thesisResearch

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A 10-year-old boy with fluctuating sensorineural hearing loss (SNHL) and biallelic mutations in the SLC26A4 gene and with inner ear anomalies received a cochlear implantation. SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic EVA or classic Pendred syndrome; the latter also associated with thyroid dysfunction. The inner ear malformations in this group of patients have been considered a relative contraindication against cochlear implantation because of the potential per- and postoperative complications such as peroperative cerebrospinal fluid leak or postoperative vestibular symptoms. In the current case there were no surgical or postoperative complications, indicating that extremely enlarged endolymphatic sacs are not as such a contraindication for cochlear implantation. This case also illustrates the management dilemma of an appropriate timing for cochlear implantation.

Original languageEnglish
JournalCochlear Implants International
Volume20
Pages (from-to)100-103
ISSN1467-0100
DOIs
Publication statusPublished - 2019

ID: 56213188