title: Cholesteryl ester storage disease: case report during childhood.
abstract: Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3(1/2)-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid lipase activity in leukocytes.
authors.affiliation: Pediatric Pathology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.
authors.forename: Z
authors.initials: Z
authors.lastname: Akçören
authors.forename: S
authors.initials: S
authors.lastname: Göğüş
authors.forename: N
authors.initials: N
authors.lastname: Koçak
authors.forename: F
authors.initials: F
authors.lastname: Gürakan
authors.forename: H
authors.initials: H
authors.lastname: Ozen
authors.forename: A
authors.initials: A
authors.lastname: Yüce
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D015217:Cholesterol Ester Storage Disease / Q000175:diagnosis* / Q000473:pathology; D004796:Clinical Enzyme Tests; D005260:Female; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008049:Lipase / Q000032:analysis; D008099:Liver / Q000473:pathology*
chemical_list: D008049:Lipase