Jarmila Vojtková, Miriam Čiljaková, Alena Szökeová, Peter Ďurdík
Hypocholesterolemia is characterized as the presence of abnormally low serum concentration of cholesterol below the 5th percentile regarding age, sex and race. Considering the large spectrum of functions of cholesterol, its low concentration is associated with the increased risk of neurologic, hematologic, imunologic and other complications, in critically ill patients is associated with higher risk of morbidity and mortality. In children with disorders of psychomotoric development and abnormalities of ner-vous system it is necessary to think also about primary causes of hypocholesterolemia (the most frequently Smith-Lemli-Opitz syndrome) in differential diagnosis. In founded hypocholesterolemia from supposed secondary causes (low exogenous intake, low endogenous production, high consumption of cholesterol) the possible etiology should be elucidated and the causal therapy should be used. The substitution therapy lies in increase of exogenous intake of cholesterol and unsaturated fatty acids by food or supplements and the substitution of liposolubile vitamins is recommended.