Wang C, Lin H J, Chan T K, Salen G, Chan W C, Tse T F
Am J Med. 1981 Aug;71(2):313-9. doi: 10.1016/0002-9343(81)90134-0.
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, changes in bile acid composition due to the defective synthesis of chenodeoxycholic acid. Coexisting beta-sitosterolemia was confirmed by the finding of large amounts of the plant sterols such as beta-sitosterol and campesterol. This is the first report of these two rare lipid storage disorders in the same patient.
一名成年中国男性出现肌腱和结节性黄瘤病以及冠状动脉严重动脉粥样硬化改变。此外，他患有慢性溶血性贫血，伴有球形口形红细胞。根据其血浆、红细胞和黄瘤中胆甾烷醇水平升高，以及由于鹅去氧胆酸合成缺陷导致的胆汁酸组成变化，诊断为脑腱性黄瘤病。通过发现大量植物甾醇如β-谷甾醇和菜油甾醇，证实并存β-谷甾醇血症。这是同一患者中这两种罕见脂质贮积病的首次报告。
