Sitosterolaemia and heterozygous familial hypercholesterolaemia in a three year old girl: case report.
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.
Nye
E R
ER
University of Otago Medical School, Dunedin.
Sutherland
W H
WH
Mortimer
J G
JG
Stringer
H C
HC
D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D008074:Lipoproteins / Q000097:blood; D012855:Sitosterols / Q000097:blood*
D008074:Lipoproteins; D012855:Sitosterols; C025473:gamma-sitosterol