Wolman's disease: a microscopic and biochemical study showing accumulation of ceroid and esterified cholesterol.
A case of Wolman's disease is described in a female infant who died at 7 weeks of age. This rare familial disorder is characterized by bilateral adrenal calcification and the accumulation of esterified cholesterol in many tissues. For the first time large quantities of ceroid have been demonstrated in the liver, spleen, adrenals, lymph nodes and particularly within the lamina propria of the small intestine. It is postulated that there exists in these patients a decreased activity of cholesterol esterases. The accumulated cholesterol esters may then be oxidized to form ceroid. Since ceroid is quite impermeable, intestinal absorption is progressively impaired, leading ultimately to death.
D000311:Adrenal Glands / Q000378:metabolism; D001344:Autopsy; D001923:Brain Chemistry; D002114:Calcinosis / Q000000981:diagnostic imaging; D002784:Cholesterol / Q000378:metabolism*; D004950:Esterases / Q000378:metabolism; D004952:Esters / Q000378:metabolism; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D007421:Intestine, Small / Q000378:metabolism; D050356:Lipid Metabolism; D008064:Lipidoses / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008099:Liver / Q000378:metabolism; D008198:Lymph Nodes / Q000378:metabolism; D010860:Pigments, Biological / Q000378:metabolism*; D011859:Radiography; D014973:Xanthomatosis / Q000201:enzymology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D004952:Esters; D005227:Fatty Acids; D010860:Pigments, Biological; D002784:Cholesterol; D004950:Esterases