title: Progressive hearing loss in Fabry's disease: a case report.
abstract: Fabry's disease is a chromosomal X-linked inherited disease, which causes a lack of the lysosomal alpha-galactosidase A enzyme leading to a cellular accumulation of glycosphingolipids. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness. This article proposes to describe a clinical case of a patient suffering from Fabry's disease with inner ear associated problems and to review the literature focusing on this subject.
authors.affiliation: Department of Oto-Rhino-Laryngology and Cervico-Facial Surgery, Lausanne University Hospital (CHUV), 1011, Lausanne, Switzerland. florian.barras@chuv.hospvd.ch
authors.forename: Florian M
authors.initials: FM
authors.lastname: Barras
authors.forename: Raphaël
authors.initials: R
authors.lastname: Maire
mesh_terms: D001301:Audiometry, Pure-Tone; D001302:Audiometry, Speech; D001309:Auditory Threshold; D018450:Disease Progression; D004244:Dizziness / Q000209:etiology* / Q000503:physiopathology; D007758:Ear, Inner / Q000473:pathology*; D000795:Fabry Disease / Q000150:complications* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008875:Middle Aged