cholesteryl ester storage disease /kōles″təril/ , an inherited disorder in which there is an accumulation of neutral lipids, such as cholesterol esters and glycerides, in body tissues. The disease may be asymptomatic or be characterized by hepatosplenomegaly, fat in the stools (steatorrhea), and adrenal calcification. The cause is a deficiency of the enzyme cholesterol ester hydrolase. There is no specific treatment. A form of the disorder affecting infants, with symptoms in the first weeks after birth, is Wolman’s disease.
