Wolman's disease in an infant

Wolman's disease in an infantA 5-week-old infant presented with failure to thrive with diarrhoea.He was the second child of consanguineous parents.The pregnancy was full term and uncomplicated.He gained 280 g in the first week of life, but only 60 g in the subsequent 4 weeks.Examination revealed massive hepatosplenomegaly and hypotonia.Investigation showed a leucoerythroblastic blood picture, hypoglycaemia and low albumin.Bone marrow aspiration showed a marked increase in foamy macrophages, consistent with a lysosomal storage disorder (top and bottom left).Culture of peripheral blood leucocytes showed absence of acid lipase, indicative of acid lipase deficiency (Wolman's Disease).The patient deteriorated rapidly with liver failure, coagulopathy and pancytopenia and died in the eighth week of life.Post-mortem liver section showed microsteatosis and macrosteatosis and cholesterol crystals in hepatocyte cytoplasm, consistent with Wolman's disease (bottom right).Lysosomal acid lipase deficiency is an autosomal recessive condition, which results in massive accumulation of cholesteryl ester and triglycerides in cells and tissues throughout the body.Wolman's disease is the severest form, leading to death during infancy.Cholesteryl ester storage disease has a variable phenotype, which may be benign and remain undetected into adulthood.