J Pediatr Gastroenterol Nutr 1991 Apr;12(3):376-8

Liver transplantation for cholesteryl ester storage disease

Ferry GD, Whisennand HH, Finegold MJ, Alpert E, Glombicki A
Department of Pediatrics, Baylor College of Medicine, Houston, Texas.

Abstract
This case describes a patient with cholesteryl ester storage disease who
underwent liver transplantation for progressive cirrhosis, portal hypertension,
ascites, and uncontrollable gastrointestinal bleeding. Four and one-half years
posttransplant, her growth improved, cholesterol levels have returned to normal,
and she is clinically well except for mild hypersplenism and an elevated blood
urea nitrogen (BUN) and creatinine. Serum triglycerides remain elevated, but
there have been no signs of progressive renal, intestinal, vascular, or
pulmonary disease