[Cholesterol ester storage disease in two siblings]

Two children, male y and female brothers, with a cholesterol ester storage disease are presented. Some pathogenic, clinical biochemical and histopathological aspects are commented. The ultrastructural hepatic finding of microcrystallized cholesterol in the Von Kupffer's cells was the determinant diagnostic parameter in both cases. The clinical expression and evolution was different, with a biggest functional impairement in the male, which was submitted to hepatic transplantation.