Two cases of cholesteryl ester storage disease (CESD) acid lipase deficiency.
The deficiency of lysosomal acid lipase is expressed in two phenotypes: Wolman's disease and cholesteryl ester storage disease (CESD), which is more benign and rare. We report two cases of cholesteryl ester storage disease; we emphasize the clinical heterogeneity and present the EM picture of the conjunctiva with cholesteryl esters stored in the lysosomes.
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D002788:Cholesterol Esters / Q000378:metabolism*; D003228:Conjunctiva / Q000473:pathology; D005260:Female; D006801:Humans; D008049:Lipase / Q000172:deficiency*; D008052:Lipid Metabolism, Inborn Errors / Q000473:pathology*; D008247:Lysosomes / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron
D002788:Cholesterol Esters; D008049:Lipase