See Also: cerebrotendinous cholesterinosis(medicine)
cholesterinosis(medicine)
cerebrotendinous xanthomatosis(medicine)
xanthomatosis, cerebrotendinous(medicine)
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cerebrotendinous cholesterinosis (medicine)


cerebrotendinous cholesterinosis -->
cerebrotendinous xanthomatosis


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.