Gaucher's disease involving the spleen

Gaucher's disease is a rare inherited disorder that results from progressive accumulation of glucocerebrosides within the reticuloendothelial system and affects the liver, the spleen, the bone marrow and the lymph nodes. Ultrasonography of the spleen typically demonstrates hypoechoic focal masses; however, the lesions may be hyperechoic if they contain extensive fibrosis or infarction. The authors describe a young Ashkenazi man who presented with splenomegaly as the single clinical manifestation and in whom were found splenic masses of mixed echogenicity, none of which demonstrated fibrosis or infarction when studied pathologically.