Wolman disease
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Definition: Wolman’s disease is a rare autosomal recessive lysosomal storage disease.
Synopsis
failing to thrive
progressive hepatosplenomegaly
abdominal calcifications
Peripheral blood: vacuolated lymphocytes
Bone marrow aspiration: foamy histiocytes.
Liver (hepatic Wolman disease)
- macroscopy: markedly enlarged, orange or butter-yellow with smooth and soft texture
- marked steatosis
- elliptical empty clefs predominantly in the Kupffer cells (cholesterol storage in the reticulo-endothelial cells)
- foamy histiocytes in portal tracts and periportal areas
- enlarged and vacuolated Kupffer cells
- portal fibrosis and periportal fibrosis
- lobular clusters of foamy macrophages
- polarisation: massive storage of birefringent material
esophageal varices
Intestine
- intestinal infiltration
Spleen (splenic Wolman disease)
Lymph nodes
Bone marrow, thymus, tonsils, blood
kidneys
thyroid
adrenals (adrenal Wolman disease)
- early fatty streaks
pulmonary hypertension
diffuse punctate adrenal calcification
acid cholesteryl ester hydrolase deficiency
disseminated organ foam cell infiltration
- bone marrow foam cells
- vacuolated blood lymphocytes
- liver, adrenal, spleen, lymph nodes, bone marrow, small intestine, lungs and thymus, skin, retina, central nervous system
Ultrastructure
large lipid droplets in enlarged lysosomes
dilated and distended endoplasmic reticulum
Laboratory
deficient acid lipase activity in the leukocytes and fibroblasts (by 4-methylumbelliferyl palmitate assay)
Etiology
mutations in the lysosomal acid lipase (LIPA) gene at 10q24-q25
See also
lysosomal acid lipase deficiency