CT findings in acid lipase deficiency: wolman disease and cholesteryl ester storage disease

Abstract

Acid lipase deficiency leads to the abnormal accumulation of cholesteryl esters and triglycerides in many tissues. It is manifested clinically in two forms: Wolman disease, which is usually fatal in infancy, and cholesteryl ester storage disease (CESD), which is clinically milder. One case of each is presented. In the patient with Wolman disease, computed tomography (CT) showed an enlarged liver of diminished density and enlarged adrenals with cortical calcification. Computed tomography of the patient with CESD showed an enlarged liver of normal density and normal adrenals. In vitro CT density is inversely related to cholesterol content. However, CT is unreliable in assessing liver cholesterol in these patients due to their poor nutrition and concomitant changes in liver glycogen and fat.