[Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome].
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.
Undas
Anetta
A
II Katedra Chorób Wewnetrznych, Collegium Medicum UJ Kraków.
Ryś
Donata
D
Wegrzyn
Wojciech
W
Musiał
Jacek
J
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