title: [Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome].
abstract: A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.
authors.affiliation: II Katedra Chorób Wewnetrznych, Collegium Medicum UJ Kraków.
authors.forename: Anetta
authors.initials: A
authors.lastname: Undas
authors.forename: Donata
authors.initials: D
authors.lastname: Ryś
authors.forename: Wojciech
authors.initials: W
authors.lastname: Wegrzyn
authors.forename: Jacek
authors.initials: J
authors.lastname: Musiał
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D004562:Electrocardiography; D000795:Fabry Disease / Q000175:diagnosis*; D006312:Hearing Loss, Bilateral / Q000150:complications* / Q000175:diagnosis; D003639:Hearing Loss, Sudden / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D035002:Lower Extremity; D008151:Lown-Ganong-Levine Syndrome / Q000150:complications* / Q000175:diagnosis; D008209:Lymphedema / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging