cerebrotendinous xanthomatosis


Also found in: Acronyms.

cer·e·bro·ten·di·nous xan·tho·ma·to·sis

[MIM*213700]
a metabolic disorder associated with deposition of cholestanol and cholesterol in the brain and other tissues; plasma cholestanol level is high but plasma cholesterol level is normal; characterized by progressive cerebellar ataxia beginning after puberty, cataracts, spinal cord involvement, premature atherosclerosis, and tendinous or tuberous xanthomata; due to a defect in hepatic mitochondrial sterol 27-hydroxylase in bile acid biosynthesis; autosomal recessive inheritance, caused by mutation in the gene involved in cytochrome P-450 in the C27 position (CYP27) on chromosome 2q.

cer·e·bro·ten·di·nous xan·tho·ma·to·sis

(serĕ-brō-tendi-nŭs zanthōmă-tōsis) [MIM*213700]
Metabolic disorder associated with bodily deposition of cholestanol and cholesterol.
Mentioned in ?
References in periodicals archive ?
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
Neurological outcome in cerebrotendinous xanthomatosis treated with chenodeoxycholic acid: early versus late diagnosis.
Cerebrotendinous xanthomatosis treatment includes chenodeoxycholic acid and HMG-CoA-reductase inhibitors.
Mosbach, A biochemical abnormality in cerebrotendinous xanthomatosis: impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain, J.
(5.) Cruysberg R., Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease, Arch.
A neurological rarity not to bemissed: cerebrotendinous xanthomatosis. Pract Neurol 2011; 11 (5): 296-300.Gallus GN, Dotti MT, Federico A.