%0 Case Reports %T Sitosterolaemia and heterozygous familial hypercholesterolaemia in a three year old girl: case report. %A Nye ER %A Sutherland WH %A Mortimer JG %A Stringer HC %J N Z Med J %V 101 %N 848 %D Jun 1988 22 %M 3393330 暂无%R %X A case of a 3 1/2 year old female child is described in which symptomless cutaneous xanthomatosis led to the diagnosis of sitosterolaemia in the presence of a defect of low-density lipoprotein uptake by cultured fibroblasts. The condition responded to treatment by cholestyramine with normalisation of the blood lipid levels. Normal growth and development continued for three years of observation.