Lysosomal acid lipase deficiency: Wolman disease/cholesteryl ester storage disease

Vomiting, diarrhea, failure to thrive, abdominal distension, hepatosplenomegaly, adrenal calcification, vacuolated peripheral lymphocytes and foam cells in the marrow, dyslipidemia, elevated aminotransferase in serum, storage of cholesterylesters and triglycerides in lysosomes, and deficiency of lysosomal acid lipase. The cholesteryl ester storage disease phenotype is of a later onset progressive hepatic fibrosis that may be progressive to cirrhosis; mutations in the LIPA gene.