A Case of Fabry's Disease with Sensorineural Hearing Loss and Imbalance

Abstract

We reported a case of Fabry disease in 40-year old man. The patient complained bilateral hearing loss, tinnitus, non-rotational nystagmus. The disease occurred in virtually all areas of the body, including chronic renal insufficiency, simple angioma, angiokeratoma, and left ventricular hypertrophy. Analysis of the clinical data from DPOAE, ABR and nystagmus test revealed cochlear deafness, retrolabyrinthine deafness and peripheral and central imbalance. These findings suggested that the accumulation of glycosphingolipids in the stria vascularis and nerve cell into the brainstem caused deafness. In addition, it is also possible that deposits in glomeruli and tubules of the kidney were secondary to bilateral hearing loss.