P1201 CHOLESTEROL ESTERS DISEASE..2 CASES REPORT

Abstract

Introduction: Cholesterol esters disease (ENEC), is a lipid metabolism autosomic recesive disease, due to acid lipase lisosomal (ALL) deficiency, a glycoprotein which hydrolyzes cholesterol esters and triglycerides in order to be used by cells; these molecules are deposited in different organs such as liver, spleen, small bowel, lymphatic nodules, suprarenal glands. Methods: Case 1: 3 years old female. Who has initiated symptoms a year before with vomit, diarrhea, hiporexia, liver and spleen enlargement. Weight 11.6 kg, Height 82 cm. Liver was soft and smooth by palpation to 8 cm below costal edge, by total percussion 12 cm which cross medium line; spleen enlargement 4 cm. CBC: Hb 12.9, PMN 18,000, platelets 661,000. Glycemia 77, creatinine 0.3, AST 178, ALT 56, DHL 252, AP 271, GGT 62, TB 0.58, cholesterol 335, triglycerides 273. Ultrasonography study: liver and spleen enlargement with increase of echo-genicity. Endoscopy: showed edema and the presence of velvet yellow appearance from the duodenal bulb up to third portion. Duodenal biopsy: lamina propia partially infiltrated by granular and foamy macrophages. Liver biopsy: portal and pericelular fibrosis with granular and foamy macrophages. Case 2: 4 years old male. Who has initiated symptoms a year before with pale, vomit, weight loss, hiporexia, liver and spleen enlargement. Weight 13.5 kg, Height 94 cm. Liver was soft and smooth by palpation to 8 cm below costal edge, by total percussion 12.5 cm which cross medium line; spleen enlargement 4 cm. CBC: Hb 5.1, PMN 4,700, platelets 447,000. Glycemia 92, creatinine 0.25, AST 96, ALT 38, AP 158, GGT 59, cholesterol 266, triglycerides 258. Ultrasonography study: liver and spleen enlargement with normal echogenicity. Endoscopy: showed edema and the presence of velvet yellow appearance from the duodenal bulb up to third portion. Duodenal biopsy: lamina propia partially infiltrated by granular and foamy macrophages. Liver biopsy: small drops steatosis, portal and pericelular fibrosis with granular and foamy macrophages. Electronic microscopy: confirmed lipidic infiltration. Discussion: Both patients show by endoscopy lipidic deposits in small bowel; and the liver biopsy steatosis and granular and foamy macrophages. These findings confirmed the diagnosis. Results: Both patients show by endoscopy lipidic deposits in small bowel; and the liver biopsy steatosis and granular and foamy macrophages. These findings confirmed the diagnosis. Conclusion: Inborn errors of lipid metabolism should be consider in preschool children with hepato-splenomegaly and elevated serum cholesterol and triglycerides.