CT Findings in Acid Lipase Deficiency

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Abstract
Acid lipase deficiency leads to the abnormal accumulation of cholesteryl esters and triglycerides in many tissues. It is manifested clinically in 2 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 child with Wolman disease, computed tomography (CT) showed an enlarged liver of diminished density and enlarged adrenals with cortical calcification. CT of the child 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.

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