cerebrotendineous xanthomatosis , CTX (skrót)
Van Bogaert-Scherer-Epstein syndrome

Sitosterolemia and cerebrotendineous xanthomatosis are two rare conditions that can also present with premature atherosclerosis and xanthomas.

Mutations in CYP27A1 are associated with cerebrotendineous xanthomatosis, a rare lipid storage disease.

Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis.

It is also known as "Van Bogaert-Scherer-Epstein syndrome".