WOLMAN-DISEASE - ULTRASONOGRAPHIC AND COMPUTED TOMOGRAPHIC FINDINGS

Acid lipase deficiency which is an inborn error of lipid metabolism leads to an abnormal accumulation of cholesteryl esters and triglycerides in many tissues. It is manifested in two clinical forms: Wolman's disease (WD) which is fatal in infancy and cholesteryl ester storage disease (CESD) which is a milder form and usually presented in adulthood. An infant with a clinical diagnosis of WD was examined with CT and ultrasound. Where as CT showed an enlarged liver with decreased density and heavily calcified adrenal glands, ultrasound revealed an enlarged liver with normal echogenicity, adrenal calcification and thickening of bowel loops. Bowel wall thickening in WD was not demonstrated in the literature before with any imaging modality.