Cholesteryl ester storage disease: case report during childhood.
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.
Akçören
Z
Z
Pediatric Pathology Unit, Hacettepe University Children's Hospital, 06100 Ankara, Turkey.
Göğüş
S
S
Koçak
N
N
Gürakan
F
F
Ozen
H
H
Yüce
A
A
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*
D008049:Lipase