Cholesteryl ester storage disease: Case report during childhood

Authors
Akcoren, Z Gogus, S Kocak, N Gurakan, F Ozen, H Yuce, A
Citation
Z. Akcoren et al., Cholesteryl ester storage disease: Case report during childhood, PEDIATR D P, 2(6), 1999, pp. 574-576
Citations number
13
Categorie Soggetti
Pediatrics
Journal title
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
ISSN journal
10935266 → ACNP
Volume
2
Issue
6
Year of publication
1999
Pages
574 - 576
Database
ISI
SICI code
1093-5266(199911/12)2:6<574:CESDCR>2.0.ZU;2-G
Abstract
Cholesteryl ester storage disease (CESD) is rare and characterized by accum ulation 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.