Morphology of Wolman cholesteryl ester storage disease.


A 21-year-old man had presented at 3 months of age with failure to thrive, malabsorption, diarrhea, weight loss, ascites, and hepatosplenomegaly. A diagnosis of Wolman disease (lysosomal acid esterase deficiency) was made following demonstration of excess cholesterol ester in the bone marrow, liver, and jejunal mucosa. Enzyme studies confirmed severe… (More)
DOI: 10.1182/blood-2016-09-738989
View Slides