Neuro-otological and peripheral nerve involvement in Fabry disease

  • Sergio Carmona | scarmona@ineba.net Department of Neuro-otology INEBA, Buenos Aires, Argentina.
  • 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.

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Author Biographies

Sergio Carmona, Department of Neuro-otology INEBA, Buenos Aires
Chairman. Department of Neurotology. INEBA (Instituto de Neurociencias de Buenos Aires)
Romina Weinschelbaum, Department of Neuro-otology INEBA, Buenos Aires
Staff. Department of Neurotology. INEBA (Instituto de Neurociencias de Buenos Aires)
Ana Pardal, Department of Neurology, British Hospital, Buenos Aires
Staff. Department of Neurology. Hospital Britanico. Buenos Aires
Cintia Marchesoni, Department of Neurology, British Hospital, Buenos Aires
Staff. Department of Neurology. Hospital Británico. Buenos Aires
Paz Zuberbuhler, Department of Neurology, British Hospital, Buenos Aires
Staff. Department of Neurology. Hospital Britanico. Buenos Aires.
Patricia Acosta, Department of Neurology, British Hospital, Buenos Aires
Staff. Department of Neurology. Hospital Británico. Buenos Aires.
Guillermo Caceres, Community Hospital, Pinamar
Staff. Hospital Comunitario de Pinamar. Pinamar
Isaac Kisinovsky, Medical Institute, Quilmes
Staff. Instituto Médico Quilmes
Ricardo Reisin, Department of Neurology, British Hospital, Buenos Aires
Chairman. Department of Neurology. Hospital Británico. Buenos Aires
Published
2017-07-28
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Original Articles
Keywords:
Fabry disease, vertigo, hearing loss, VEMP, peripheral neuropathy, QST.
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How to Cite
Carmona, S., Weinschelbaum, R., Pardal, A., Marchesoni, C., Zuberbuhler, P., Acosta, P., Caceres, G., Kisinovsky, I., Bayón, L., & Reisin, R. (2017). Neuro-otological and peripheral nerve involvement in Fabry disease. Audiology Research, 7(2). https://doi.org/10.4081/audiores.2017.176