title: Cochlear implantation in a child with CINCA syndrome who also has wide vestibular aqueducts.
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 non-inflammatory 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 auto-inflammatory 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.
authors.affiliation: ENT Department, University of Manchester, Manchester Royal Infirmary, Manchester, UK. jamesbates@doctors.net.uk
authors.forename: J E H M
authors.initials: JE
authors.lastname: Bates
authors.forename: I A
authors.initials: IA
authors.lastname: Bruce
authors.forename: L
authors.initials: L
authors.lastname: Henderson
authors.forename: C
authors.initials: C
authors.lastname: Melling
authors.forename: K M J
authors.initials: KM
authors.lastname: Green
mesh_terms: D000293:Adolescent; D018501:Antirheumatic Agents / Q000627:therapeutic use; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation / Q000379:methods*; D003131:Combined Modality Therapy; D056587:Cryopyrin-Associated Periodic Syndromes / Q000175:diagnosis / Q000601:surgery*; D005260:Female; D005500:Follow-Up Studies; D006310:Hearing Aids; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D007805:Language Development Disorders / Q000175:diagnosis / Q000601:surgery; D010349:Patient Compliance; D013063:Speech Discrimination Tests; D013069:Speech Reception Threshold Test; D014723:Vestibular Aqueduct / Q000002:abnormalities*
chemical_list: D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein