Wolman disease

A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea

A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life.

Signs and symptoms

• Vomiting
• Failure to thrive
• Hepatomegaly
• Abdominal distention
• Acute hepatic failure
• Fever
• Reduced lysosomal acid lipase activity
• Splenomegaly
• Adrenal calcification

Also known as: Acid esterase deficiency; Acid lipase deficiency; Wolman xanthomatosis; Wolman's disease; Wolman's or triglyceride storage type III disease