Definition: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding sterol 27-hydroxylase. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
Other names Xanthomatoses, Cerebrotendinous; Van Bogaert Scherer Epstein Disease; Disease, Van Bogaert-Scherer-Epstein; Cerebrotendinous Xanthomatoses; Cerebral Cholesterinoses; Bogaert-Scherer-Epstein Disease, Van; Cerebrotendinous Xanthomatosis; Cerebral Cholesterinosis; Van Bogaert-Scherer-Epstein Disease
