Data di Pubblicazione:
2012
Citazione:
Fabry disease presenting with sudden hearing loss and otosclerosis : a case report / G. Felisati, E. Salvatici, C. Pipolo, S.M. Portaleone, E. Riva, M. Giovannini. - In: JOURNAL OF MEDICAL CASE REPORTS. - ISSN 1752-1947. - 6:1(2012 Apr 16), p. 112.112. [10.1186/1752-1947-6-112]
Abstract:
Introduction: 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. 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.
Conclusions: Although 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 decisionmaking.
Tipologia IRIS:
01 - Articolo su periodico
Elenco autori:
G. Felisati, E. Salvatici, C. Pipolo, S.M. Portaleone, E. Riva, M. Giovannini
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