Patohistološka dijagnostika bolesti nagomilavanja estra holesterola

Abstract

Cholesteryl ester storage disease (CESD) is rare and characterised by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report on a 2 1/2-year old child with CESD. The diagnosis was made by liver biopsy and finding of heat-sensitive birefrigent crystals seen in frozen liver tissue under polarized light. In world literature the number of cases previously described is small (in paediatric age group does not exceed 40), and this was the reason for the presentation of our patient.

Keywords: Cholesteryl ester storage disease, liver biopsy diagnosis, child.