Progressive hearing loss in Fabry's disease: a case report

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
Florian M Barras, Raphaël Maire

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.

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Citations

Apr 18, 2012·Journal of Medical Case Reports·Giovanni FelisatiMarcello Giovannini
Jan 22, 2013·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Melanie D Sivley

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