Neuro-otological and peripheral nerve involvement in Fabry disease

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Sergio Carmona *
Romina Weinschelbaum
Ana Pardal
Cintia Marchesoni
Paz Zuberbuhler
Patricia Acosta
Guillermo Caceres
Isaac Kisinovsky
Luciana Bayón
Ricardo Reisin
(*) Corresponding Author:
Sergio Carmona | scarmona@ineba.net

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