The site of the hearing loss in Refsum's disease

Refsum's disease is a disorder of lipid metabolism with pigmentary retinopa thy, demyelinating neuropathy, ataxia, and hearing loss. Previous histologi cal studies have located the site of hearing impairment in the inner ear, b ut it has never been confirmed audiologicaly in the literature. In this rep orted case of Refsum's disease, despite hearing loss and absence of respons e in ABR, robust otoacoustic emissions were measured. Together with these a nd other audiological findings, we conclude that our case might be the firs t reported case of Refsum's disease with auditory neuropathy. The site of t he hearing abnormality in Refsum's disease may be 'post-outer hair cells' i n 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 b efore otoacoustic emission measurements should be considered cautiously in Refsum's disease. (C) 2001 Elsevier Science Ireland Ltd. All rights reserve d.