An Adult Form of Gaucher Disease Associated With Portal Hypertension: a Case

Abstract

Gaucher disease (GD) is an inborn error of metabolism that affects the recycling of cellular glycolipids. Glucosylceramide (also called glucocerebroside) accumulate within the lysosomes of cells. Gaucher's disease is most common lysosomal storage disease and its incidence is 1/75.000. Three types of this disease have been defined. During the course of disease, it was reported that hepatosplenomegaly, portal hypertension, hyperferritinemia, splenic infarcts and splenic nodules might develop. Therefore, as in our case; Gaucher's disease must be remembered in the setting of hepatosplenomegaly, portal hypertension, hyperferritinemia, splenic infarcts and splenic nodules of unknown etiology.