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Article

Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease

1
Department of Neuro-otology INEBA, Buenos Aires, Argentina
2
Department of Neurology, British Hospital, Buenos Aires, Argentina
3
Community Hospital, Pinamar, Argentina
4
Medical Institute, Quilmes, Argentina
*
Author to whom correspondence should be addressed.
Audiol. Res. 2017, 7(2), 176; https://doi.org/10.4081/audiores.2017.176
Submission received: 5 March 2017 / Revised: 19 January 2017 / Accepted: 19 January 2017 / Published: 28 July 2017

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

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MDPI and ACS Style

Carmona, S.; Weinschelbaum, R.; Pardal, A.; Marchesoni, C.; Zuberbuhler, P.; Acosta, P.; Caceres, G.; Kisinovsky, I.; Bayón, L.; Reisin, R. Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease. Audiol. Res. 2017, 7, 176. https://doi.org/10.4081/audiores.2017.176

AMA Style

Carmona S, Weinschelbaum R, Pardal A, Marchesoni C, Zuberbuhler P, Acosta P, Caceres G, Kisinovsky I, Bayón L, Reisin R. Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease. Audiology Research. 2017; 7(2):176. https://doi.org/10.4081/audiores.2017.176

Chicago/Turabian Style

Carmona, Sergio, Romina Weinschelbaum, Ana Pardal, Cintia Marchesoni, Paz Zuberbuhler, Patricia Acosta, Guillermo Caceres, Isaac Kisinovsky, Luciana Bayón, and Ricardo Reisin. 2017. "Neuro-Otological and Peripheral Nerve Involvement in Fabry Disease" Audiology Research 7, no. 2: 176. https://doi.org/10.4081/audiores.2017.176

APA Style

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), 176. https://doi.org/10.4081/audiores.2017.176

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