Abstract
IntroductionFabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes.Case presentationWe describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis. This case demonstrates the partial and transient beneficial effect of standard treatment for sudden hearing loss not related to Fabry disease and analyzes the possible connection between typical Fabry disease inner-ear lesions and otosclerosis. Whereas hearing loss has been described in connection with Fabry disease, otosclerosis-associated hearing loss in Fabry disease has not yet been described.ConclusionsAlthough progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available. The lack of literature concerning the pathogenesis of the otological involvement in Fabry disease makes it impossible to identify a connection between the latter and otosclerosis. Therefore, this report may help to reinforce the importance of a thorough evaluation of hearing in patients with Fabry disease and may be of help with therapeutic decision-making.
Highlights
Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes.Case presentation: We describe the case of a 26-year-old European Caucasian man who had Fabry disease and who presented with episodic sudden unilateral hearing loss and was treated with glucocorticoids, pentoxifylline, hyperbaric oxygen, and fluoride because of concomitant audiometric evidence of otosclerosis
Conclusions: progressive hearing loss in patients with Fabry disease seems to be influenced by replacement therapy, few data concerning treatment of sudden hearing loss are available
Fabry disease (FD) is an X-linked lysosomal storage disorder that is due to the deficient activity of the enzyme alpha-galactosidase A (GLA enzyme), a lysosomal hydrolase encoded by the alpha-galactosidase gene (GLA gene; EC 3.2.1.22) [1]
Summary
As this case report demonstrates, there is only a partial and transient beneficial effect of ERT and hyperbaric oxygen treatment combined with corticotherapy and pentoxifylline for hearing loss in patients with FD. The etiology of SHL is difficult to demonstrate even in otherwise healthy patients because the involved anatomical structures may be evaluated only partially in vivo. The involved structures are the same and the spiral ligament has been described in both otosclerosis and FD atrophy of the stria vascularis [14,15]. A careful follow-up is essential to evaluate the degree of cochlear involvement, understand the fundamental pathophysiological mechanisms, and prevent SHL and the irreversible progression of hearing damage in patients who have already undergone ERT. Author details 1Department of Otorhinolaryngology, San Paolo Hospital, University of Milan, Via A. GF was involved in the therapeutic approach of the sudden hearing loss and provided a major review of the ear, nose, and throat part of the manuscript. Competing interests The authors declare that they have no competing interests
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