A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia.

Abstract

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.

• Authors: C Wang, H J Lin, T K Chan, G Salen, W C Chan, T F Tse
• Journal: The American journal of medicine (Am J Med) Vol. 71 Issue 2 Pg. 313-9 (Aug 1981) ISSN: 0002-9343 [Print] United States
• PMID: 7258222 (Publication Type: Case Reports, Journal Article)

Chemical References

• Cholestanols
• Phytosterols
• Sitosterols
• Chenodeoxycholic Acid
• campesterol
• gamma-sitosterol
• Cholesterol

Topics

• Adult
• Anemia, Hemolytic (complications)
• Chenodeoxycholic Acid (biosynthesis)
• Cholestanols (blood)
• Cholesterol (analogs & derivatives, blood)
• Coronary Disease (complications)
• Humans
• Lipidoses (complications, metabolism)
• Phytosterols
• Sitosterols (blood)
• Spherocytes
• Xanthomatosis (complications, metabolism)