The objective was to describe a case of bilateral cochlear implantation in a 59-year-old man with hearing and visual impairment due to Refsum’s disease.
Method:
A retrospective case review was performed.
Results:
After cochlear implantation, the patient demonstrated much improved audiometric performance and reported improved sound localization.
Conclusions:
Bilateral cochlear implantation is an important strategy in the improvement of hearing and quality of life in individuals with Refsum’s disease.
GloerichJVan VliesNJansenGA, et al. A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARα-dependent and -independent pathways. J Lipid Res. 2005;46:716-726.
3.
JansenGAOfmanRFerdinandusseS, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. 1997;17(2):190-193.
4.
van den BrinkDMBritesPHaasjesJ, et al. Identification of PEX7 as the second gene involved in Refsum disease. Am J Hum Genet. 2003;72(2):471-477.
5.
BaldwinEJBaldwinEJGibberdFBHarleyC, et al. The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease. J Neurol Neurosurg Psychiatry. 2010;81(9):954-957.
6.
RaineCHKurukulasuriyaMFBajajYStrachanDR.Cochlear implantation in Refsum’s disease. Cochlear Implants Int. 2008;9(2):97-102.
7.
OysuCAslanIBasaranBBasererN.The site of the hearing loss in Refsum’s disease. Int J Pediatr Otorhinolaryngol. 2001;61(2):129-134.
8.
BamiouDESpraggsPRGibberdFB, et al. Hearing loss in adult Refsum’s disease. Clin Otolaryngol Allied Sci. 2003;28(3):227-230.
9.
ItoJ.Tinnitus suppression in cochlear implant patients. Otolaryngol Head Neck Surg. 1997;117(6):701-703.
