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Neuro-otological and peripheral nerve involvement in Fabry disease

Sergio Carmona, Romina Weinschelbaum, Ana Pardal, Cintia Marchesoni, Paz Zuberbuhler, Patricia Acosta, Guillermo Caceres, Isaac Kisinovsky, Luciana Bayón, Ricardo Reisin
  • Sergio Carmona
    Department of Neuro-otology INEBA, Buenos Aires, Argentina | scarmona@ineba.net
  • Romina Weinschelbaum
    Department of Neuro-otology INEBA, Buenos Aires, Argentina
  • Ana Pardal
    Department of Neurology, British Hospital, Buenos Aires, Argentina
  • Cintia Marchesoni
    Department of Neurology, British Hospital, Buenos Aires, Argentina
  • Paz Zuberbuhler
    Department of Neurology, British Hospital, Buenos Aires, Argentina
  • Patricia Acosta
    Department of Neurology, British Hospital, Buenos Aires, Argentina
  • Guillermo Caceres
    Community Hospital, Pinamar, Argentina
  • Isaac Kisinovsky
    Medical Institute, Quilmes, Argentina
  • Luciana Bayón
    Department of Neuro-otology INEBA, Buenos Aires, Argentina
  • Ricardo Reisin
    Department of Neurology, British Hospital, Buenos Aires, Argentina

Abstract

Fabry disease (FD) is an X-linked lysosomal storage disease, with multisystemic glycosphingolipids deposits. Neuro-otological involvement leading to hearing loss and vestibular dysfunctions has been described, but there is limited information about the frequency, site of lesion, or the relationship with peripheral neuropathy. The aim was to evaluate the presence of auditory and vestibular symptoms, and assess neurophysiological involvement of the VIII cranial nerve, correlating these findings with clinical and neurophysiological features of peripheral neuropathy. We studied 36 patients with FD with a complete neurological and neuro-otological evaluation including nerve conduction studies, quantitative sensory testing (to evaluate small fiber by warm and cold threshold detection and cold and heat pain), vestibular evoked myogenic potentials, videonistagmography, audiometry and brainstem auditory evoked potentials. Neuro-otologic symptoms included hearing loss (22.2%), vertigo (27.8%) or both (25%). An involvement of either cochlear or vestibular function was identified in most patients (75%). In 70% of our patients the involvement of both cochlear and vestibular function could not be explained by a neural or vascular mechanism. Small fiber neuropathy was identified in 77.7%. There were no significant associations between neurootological and QST abnormalities. Neuro-otologic involvement is frequent and most likely under-recognized in patients with FD. It lacks a specific neural or vascular pattern, suggesting multi-systemic, end organ damage. Small fiber neuropathy is an earlier manifestation of FD, but there is no correlation between the development of neuropathy and neuro-otological abnormalities.

Keywords

Fabry disease; vertigo, hearing loss; VEMP; peripheral neuropathy; QST.

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Submitted: 2017-03-05 00:58:21
Published: 2017-07-28 14:41:45
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Copyright (c) 2017 Sergio Carmona, Romina Weinschelbaum, Ana Pardal, Cintia Marchesoni, Paz Zuberbuhler, Patricia Acosta, Guillermo Cáceres, Isaac Kisinovsky, Luciana Bayón, Ricardo Reisin

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