Gaucher Disease: A Case Report

Gaucher disease is an autosomal ressesive, lysosomal storage disease, characterized by glycosylcerebroside deposition in reticulo-endothelial cells, due to deficiency of lysosomal glucocerebrosidase. Enzyme and gene therapy are new curative therapies for Gaucher disease and due to it's rarity, we present a case report and reviewed the diasease.