Wolman disease in an Egyptian patient

ABSTRACT

Lysosomal acid lipase deficiency leads to accumulation of cholesteryl esters and triglycerides in different body tissues. This disorder is manifested in two clinical forms; cholesteryl ester storage disease which is a benign adult form and Wolman disease [WD], a fatal autosomal recessive form. We present an Egyptian infant with WD whose diagnosis was based on clinical, laboratory and imaging features. This is the first reported patient with WD from Egypt