title: Sitosterolaemia and xanthomatosis in a child.
abstract: A 4-year-old boy presented with multiple tuberous xanthomata and a fasting plasma sterol concentration of 18.3 mmol/L, consisting primarily of cholesterol. Two months after changing from an unrestricted diet to a cholesterol-lowering diet, the plasma sterol concentration decreased to 4 mmol/L. Fasting plasma cholesterol levels for his father and mother were 7.3 mmol/L and 6.0 mmol/L, respectively. The degree and rapidity of the child's response to dietary control, together with the fasting cholesterol results of both parents suggested a diagnosis of sitosterolaemia. Gas chromatography and mass spectrometry of the patient's plasma sterol levels showed that the percentage of beta-sitosterol was raised at 12.76%, as was campesterol (6.26%), and stigmasterol (0.71%), confirming the diagnosis of sitosterolaemia. The addition of cholestyramine 4 g/day to a low sterol diet maintained the plasma sterol concentration at 4 to 5 mmol/L, and gradual regression of the xanthoma was observed. These findings indicate that a diagnosis of sitosterolaemia, a treatable cause of premature atherosclerosis, should be considered in children with severe hypercholesterolaemia whose plasma cholesterol level is highly responsive to dietary manipulation.
authors.affiliation: Department of Paediatrics, Princess Margaret Hospital, 2-10 Princess Margaret Hospital Road, Laichikok, Kowloon, Hong Kong.
authors.forename: W F
authors.initials: WF
authors.lastname: Cheng
authors.forename: Y P
authors.initials: YP
authors.lastname: Yuen
authors.forename: C B
authors.initials: CB
authors.lastname: Chow
authors.forename: K M
authors.initials: KM
authors.lastname: Au
authors.forename: Y W
authors.initials: YW
authors.lastname: Chan
authors.forename: S C
authors.initials: SC
authors.lastname: Tam
mesh_terms: D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D006801:Humans; D008297:Male; D012855:Sitosterols / Q000097:blood*; D014973:Xanthomatosis / Q000209:etiology*
chemical_list: D012855:Sitosterols; C025473:gamma-sitosterol; D002784:Cholesterol