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

Eur Arch Otorhinolaryngol. 2006 Jul;263(7):688-91. doi: 10.1007/s00405-006-0023-0. Epub 2006 Mar 7.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Audiometry, Pure-Tone
  • Audiometry, Speech
  • Auditory Threshold
  • Disease Progression
  • Dizziness / etiology*
  • Dizziness / physiopathology
  • Ear, Inner / pathology*
  • Fabry Disease / complications*
  • Fabry Disease / physiopathology
  • Hearing Loss, Sensorineural / etiology*
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Male
  • Middle Aged