| cholesterinosis | Synonym: cholesterolosis. (05 Mar 2000) |
|---|
| cerebrotendinous cholesterinosis | A disorder with deposition of cholestanol in the brain and other tissues and high levels in plasma but with normal cholesterol level; characterised by progressive cerebellar ataxia beginning after puberty, juvenile cataracts, spinal cord involvement, and tendinous or tuberous xanthomata; autosomal recessive inheritance. Probably due to a defect in hepatic mitochondrial 26-hydroxylase in bile acid biosynthesis. Synonym: cerebrotendinous cholesterinosis. (05 Mar 2000) |
|---|