Gaucher disease: sonographic appearance of the spleen

Abstract

Ultrasonographic (US) examinations of the upper abdomen were performed in 80 patients with Gaucher disease. Of the 49 patients that had not undergone splenectomy, 47 had splenic enlargement. Sixteen patients had multiple lesions in the spleen. Most patients had discrete hypoechoic lesions that corresponded pathologically to focal homogeneous clusters of Gaucher cells. Several patients had similar lesions that were hyperechoic and were composed of Gaucher cells and fibrosis or infarction. A few patients had a geographic pattern of irregular areas of involvement of Gaucher cells among normal splenic parenchyma. The liver was often enlarged but otherwise sonographically unremarkable. Patients with Gaucher disease often have US examinations of the left upper quadrant for abdominal pain. A variety of US findings in the spleen typical for Gaucher disease should be recognized and not interpreted as acute changes.