Cochlear Implantation in Brown–Vialetto–Van-Laere syndrome

• Published in: Journal of laryngology and otology Vol. 125; no. 3; pp. 314 - 317
• Main Authors: Sinnathuray, A R, Watson, D R, Fruhstorfer, B, Olarte, J R, Toner, J G
• Format: Journal Article
• Language: English
• Published: Cambridge, UK Cambridge University Press 01.03.2011
• Subjects: Adult; Age; Auditory Threshold - physiology; Biological and medical sciences; Bulbar Palsy, Progressive - pathology; Bulbar Palsy, Progressive - physiopathology; Bulbar Palsy, Progressive - surgery; Cochlear Implantation; Cochlear Implants; Disease Progression; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; Evoked Potentials, Auditory; Female; Hearing Aids; Hearing loss; Hearing Loss, Sensorineural - pathology; Hearing Loss, Sensorineural - physiopathology; Hearing Loss, Sensorineural - surgery; Humans; Lipreading; Male; Malformations of the eye; Medical sciences; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Non tumoral diseases; Ophthalmology; Ostomy; Otorhinolaryngology. Stomatology; Patients; Reading comprehension; Siblings; Speech Discrimination Tests; Speech Perception; Treatment Outcome; Sydney New South Wales Australia; Australia; Cochlear Implantation; Sensorineural Hearing Loss; Brown–Vialetto–Van Laere Syndrome; Progressive Bulbar Palsy; Auditory Evoked Potentials; Brown-Vialetto-Van Laere Syndrome; Motor system disorder; Auditory disorder; ENT; Electrodiagnosis; ENT disease; Perception hearing loss; Paralysis; Oculomotor syndrome; Neurological disorder; Nervous system diseases; Brown syndrome; Internal ear disease; Implantation; Congenital disease; Progressive; Eye disease; Malformation; Auditory evoked potential; Ophthalmoplegia; Cochlea; Sensory hearing loss
• ISSN: 0022-2151; 1748-5460
• DOI: 10.1017/S0022215110001982

To report outcomes for the first known cochlear implantation procedures in two patients with Brown-Vialetto-Van-Laere syndrome. Two adult patients (a brother and sister) with post-lingual sensorineural deafness associated with Brown-Vialetto-Van-Laere syndrome. The female patient presented with a milder form of the syndrome. Cochlear implantation. Post-implantation speech discrimination scores. Auditory evoked potential testing suggested pathological changes in both patients' cochleae, auditory nerves, brainstem and (probably) central auditory pathways. In the male patient, despite implantation of the better ear, the Bamford-Kowal-Bench sentence score was zero at 21 months post-implantation. In the female patient, Bamford-Kowal-Bench sentence scores at six months post-implantation were 25 per cent in quiet and 3 per cent in noise. These poor clinical outcomes appear to be related to retrocochlear and probable central auditory pathway degeneration.