title: A case of acid lipase deficiency: Wolman's disease.
abstract: We report a case of Wolman disease, an unusual autosomal recessive disease characterized by storage of lipid in histiocytes. Storage of cholesteryl esters and triglycerides is caused by lysosomal acid lipase deficiency. This enzyme hydrolyses the cholesteryl esters of LDL thus allowing their peripherical metabolism. Onset of the disease occurs after the first month of life with hepatosplenomegaly, diarrhea, vomiting, abdominal distension, failure to thrive. Diagnosis, suspected because of calcifications of the adrenals was achieved by demonstration of lysosomal acid lipase deficiency in lymphocytes and cultured skin fibroblasts. Carriers of the disease can be identified by enzyme assays in lymphocytes and fibroblasts and prenatal diagnosis can be accomplished by lysosomal acid lipase assays in cultured amniotic fluid cells and chorionic villi.
authors.forename: G
authors.initials: G
authors.lastname: Bona
authors.forename: G
authors.initials: G
authors.lastname: Bracco
authors.forename: M R
authors.initials: MR
authors.lastname: Gallina
authors.forename: A
authors.initials: A
authors.lastname: Iavarone
authors.forename: L
authors.initials: L
authors.lastname: Artesani
authors.forename: A
authors.initials: A
authors.lastname: Perona
authors.forename: M
authors.initials: M
authors.lastname: Zaffaroni
mesh_terms: D000307:Adrenal Gland Diseases / Q000473:pathology; D001774:Blood Chemical Analysis; D002114:Calcinosis / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008049:Lipase / Q000097:blood; D008074:Lipoproteins / Q000097:blood; D008099:Liver / Q000503:physiopathology; D008214:Lymphocytes / Q000201:enzymology; D015223:Wolman Disease / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism
chemical_list: D008074:Lipoproteins; D008049:Lipase