2004 Volume 47 Issue 4 Pages 263-267
Fabry disease is a rare X-linked recessive glycosphingolipid storage disorder that is caused by a deficiency of the lysosomal enzyme α-galactosidase A. This deficiency leads to widespread glycoshingolipid deposition in the endothelial and smooth muscle cells of the microvasculature throughout the body. Clinically, affected patients suffer from ischemic complications involving brain and heart as well as chronic renal insufficiency. A few reports have mentioned cochlear involvement in Fabry disease.
Here, we present two cases with Fabry disease. A 51-year-old male experienced a sudden hearing loss on the different occassions. He was diagnosed as having Fabry disease during a follow-up examination for chronic renal failure. A 47-year-old female exhibited a high frequency sensorineural hearing loss. Analysis of SISI and Bekesy test results showed inner ear hearing loss in both cases. We hypothesized that sudden hearing loss may be caused by vascular mechanisms as a result of the accumulation of glycosphingolipids within endothelial and smooth muscle cells, leading to ischemia and frank occlusion in the vessels feeding the cochlea. Slowly progressive hearing loss might be caused by the accumulation of glycosphingolipids within the spiral ganglion cells or cochlear vessels.
Fabry disease should be included in a differential diagnosis of unexplainable sensorineural hearing loss with renal insufficiency.
