title: [Lysosomal acid lipase deficiency in children: our experience and a novel possibility of enzyme replacement therapy].
abstract: Lysosomal acid lipase deficiency is an autosomal recessive disorder with two distinct clinical phenotypes. Wolman disease is rapidly progressive with onset in early infancy. Complete enzyme deficiency results in massive accumulation of cholesterol esters and triglycerides in intestines, liver, spleen and other monocyte-macrophage system cells causing malabsorption, hepatosplenomegaly, liver failure and death in early infancy. Cholesterol ester storage disease may be diagnosed in childhood or later in life. It is characterized by chronic course and variable progression. Main features are variously expressed hepatopathy, including cirrhosis and liver failure, hypercholesterolemia and premature atherosclerosis. Characteristic is pathohistological finding of microvesicular steatosis and fibrosis and patognomonic are typical cholesterol ester crystals. Diagnosis is confirmed by enzyme assay and/or gene analysis. Until recently treatment was symptomatic. Ongoing clinical trials of enzyme replacement therapy have shown very promising results. We are presenting an infant with Wolman disease and two children with cholesterol ester storage disease with the aim to raise awareness about this disease and to start optimal care early.
authors.forename: Danijela Petković
authors.initials: DP
authors.lastname: Ramadža
authors.forename: Mario
authors.initials: M
authors.lastname: Ćuk
authors.forename: Karin
authors.initials: K
authors.lastname: Zibar
authors.forename: Marina
authors.initials: M
authors.lastname: Barić
authors.forename: Vladimir
authors.initials: V
authors.lastname: Sarnavka
authors.forename: Karmen
authors.initials: K
authors.lastname: Bilić
authors.forename: Ksenija
authors.initials: K
authors.lastname: Fumić
authors.forename: Jurica
authors.initials: J
authors.lastname: Vuković
authors.forename: Silvija
authors.initials: S
authors.lastname: Pušeljić
authors.forename: Marijana
authors.initials: M
authors.lastname: Ćorić
authors.forename: Ranka Štern
authors.initials: RŠ
authors.lastname: Padovan
authors.forename: Marko
authors.initials: M
authors.lastname: Kralik
authors.forename: Ivo
authors.initials: I
authors.lastname: Barić
mesh_terms: D002648:Child; D015217:Cholesterol Ester Storage Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D056947:Enzyme Replacement Therapy; D006801:Humans; D007223:Infant; D015223:Wolman Disease / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*