Abstract
Gaucher's disease (GD), the most common lysosomal storage disease, is an autosomal recessive, multi-systemic glycosphingolipid disorder. It is caused by reduced activity of the enzyme glucocerebrosidase, a lysosomal acid β-glucosidase, which results in the accumulation of glucosylceramide in lysosomes of the monocyte-macrophage system. Audiological assessment of GD patients has been performed in previous studies. Auditory brainstem response (ABR) still remains the main tool to evaluate the involvement of the auditory pathway in the progression of disease. Nevertheless, the relationship between abnormal findings and brainstem involvement remains unclear. We report our data and review the scientific literature.
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