The site of the hearing loss in Refsum's disease.

Refsum's disease is a disorder of lipid metabolism with pigmentary retinopathy, demyelinating neuropathy, ataxia, and hearing loss. Previous histological studies have located the site of hearing impairment in the inner ear, but it has never been confirmed audiologicaly in the literature. In this reported case of Refsum's disease, despite hearing loss and absence of response in ABR, robust otoacoustic emissions were measured. Together with these and other audiological findings, we conclude that our case might be the first reported case of Refsum's disease with auditory neuropathy. The site of the hearing abnormality in Refsum's disease may be 'post-outer hair cells' in some cases as in the current case. Because of their limited benefits and risk of noise-induced damage to outer hair cells, the use of hearing aids before otoacoustic emission measurements should be considered cautiously in Refsum's disease.