Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency.

ABSTRACTObjective:LIPA gene mutations result in deficiency of lysosomal acid lipase and present phenotypically as Wolman disease or cholesteryl ester storage disease (CESD) depending on the level of deficiency. Patients with CESD may often be misdiagnosed because symptoms may be nonspecific. Symptom