Wolman disease is the infantile-onset form of lysosomal acid lipase deficiency.
Clinical and laboratory findings:
(1) onset as a neonate or during infancy
(2) malabsorption with malnutrition and failure to thrive
(3) recurrent vomiting
(4) hepatomegaly and liver disease secondary to hepatic accumulation of cholesterol esters and triglycerides (steatosis), with progression to liver failure
(5) splenomegaly
(6) adrenal gland enlargement with calcifications, with progression to adrenal insufficiency
(7) abnormally high serum lipid concentrations (hyperlipidemia)
Death occurs during infancy unless a hematopoietic stem cell transplant is performed.
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