See Also: cerebrotendinous xanthomatosis(medicine)
xanthomatosis, cerebrotendinous(medicine)
cerebrotendinous cholesterinosis(medicine)
Herbal medicine (botanical medicine, herbology, phytomedicine)(health)
Xanthomatosis(medicine)
Wolman's xanthomatosis(medicine)
xanthomatosis bulbi(medicine)
biliary xanthomatosis(medicine)
familial hypercholesteraemic xanthomatosis(medicine)
normal cholesteraemic xanthomatosis(medicine)

cerebrotendinous xanthomatosis (medicine)


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.