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

Barras, Florian ; Maire, Raphaël

In: European Archives of Oto-Rhino-Laryngology and Head & Neck, 2006, vol. 263, no. 7, p. 688-691

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    Titre
    • Progressive hearing loss in Fabry's disease: a case report
    Auteur
    • Barras, Florian. Department of Oto-Rhino-Laryngology and Cervico-Facial Surgery, Lausanne University Hospital (CHUV), 1011, Lausanne, Switzerland
    • Maire, Raphaël. Department of Oto-Rhino-Laryngology and Cervico-Facial Surgery, Lausanne University Hospital (CHUV), 1011, Lausanne, Switzerland
    Type de document
    • Postprint
    Langue
    • Anglais
    Publié dans
    • European Archives of Oto-Rhino-Laryngology and Head & Neck, 2006, vol. 263, no. 7, p. 688-691. Springer-Verlag
    Autre version électronique
    Identifiant OAI-PMH
    • oai:doc.rero.ch:309818
    Summary
    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