Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts

J. E H M Bates, I. A. Bruce, L. Henderson, C. Melling, K. M J Green

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe auto-inflammatory disease, due to mutation of the CIAS1 gene. CINCA syndrome should be considered the most severe of a spectrum of three disorders all due to mutation of the CIAS1 gene. CINCA syndrome produces a triad of symptoms of neonatal onset: maculopapular urticarial rash, chronic meningitis, and chronic noninflammatory arthropathy with recurrent fever. CINCA syndrome is also associated with sensory organ damage, especially progressive hearing loss and loss of vision. In this case report, we present the first case of cochlear implantation in a 13-year-old child with CINCA syndrome. Cochlear implantation was successful at rehabilitating the hearing loss with the child able to continue mainstream education, with her academic performance and speech discrimination both showing marked improvement. Anakinra (an interleukin 1 receptor antagonist) is now in widespread use to treat CINCA syndrome and is known to rapidly reverse the inflammatory features of CINCA syndrome. However, current evidence suggests that anakinra has limited effectiveness in reversing the sensorineural hearing loss seen in CINCA syndrome. We therefore propose that cochlear implantation is a viable treatment option in this rare yet severe autoinflammatory disease, if the patient has failed to respond to anakinra. Owing to the unknown pathogenesis of the progressive hearing loss seen in CINCA syndrome and the limited effectiveness of anakinra in reversing the progressive hearing loss, we suggest that cochlear implantation is the modality of choice in rehabilitating severe-to-profound hearing loss not responsive to anakinra. © W.S. Maney & Son Ltd 2012.
    Original languageEnglish
    Pages (from-to)173-176
    Number of pages3
    JournalCochlear Implants International
    Volume13
    Issue number3
    DOIs
    Publication statusPublished - Aug 2012

    Keywords

    • Chronic infantile neurological cutaneous and articular
    • Cochlear implant
    • Neonatal-onset multisystem inflammatory disease

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