A unique patient with coexisting cerebrotendinous xanthomatosis and β-sitosterolemia

An adult Chinese man presented with tendinous and tuberous xanthomatosis and severe atheromatous changes in the coronary arteries. In addition, he had chronic hemolytic anemia, with spherostomatocytic erythrocytes. Cerebrotendinous xanthomatosis was diagnosed on the basis of increased cholestanol levels in his plasma, red cells and xanthoma, and changes in bile acid composition due to the defective synthesis of chenodeoxycholic acid. Coexisting β-sitosterolemia was confirmed by the finding of large amounts of the plant sterols such as β-sitosterol and campesterol. This is the first report of these two rare lipid storage disorders in the same patient.