title: Cochlear implantation in Refsum's disease.
abstract: Refsum's disease is a rare disorder characterized by accumulation of phytanic acid in plasma and tissues. The main clinical features are retinitis pigmentosa, cerebellar ataxia and chronic polyneuropathy. Sensorineural hearing loss of varying severity can be an additional feature. This study reports our experience with two patients with Refsum's disease who underwent successful cochlear implantation. Both patients had good audiological outcomes after implantation and were overall very satisfied. Bilateral implantation should be considered with patients with severe dual sensory loss. One patient was implanted bilaterally the other unilaterally, primarily due to prolonged duration of unaided unilateral profound hearing loss.
authors.affiliation: Yorkshire Cochlear Implant Service, Bradford Royal Infirmary, Duckworth Lane, Bradford, UK. CHRraine@aol.com
authors.forename: C H
authors.initials: CH
authors.lastname: Raine
authors.forename: M F
authors.initials: MF
authors.lastname: Kurukulasuriya
authors.forename: Y
authors.initials: Y
authors.lastname: Bajaj
authors.forename: D R
authors.initials: DR
authors.lastname: Strachan
mesh_terms: D000368:Aged; D000758:Anesthesia; D019929:Cochlear Implantation; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000209:etiology / Q000628:therapy*; D006801:Humans; D008875:Middle Aged; D012035:Refsum Disease / Q000150:complications*