Xanthomatosis, Cerebrotendinous
Synonyms
Bogaert-Scherer-Epstein Disease, Van
Cerebral Cholesterinoses
Cerebral Cholesterinosis
Cerebrotendinous Xanthomatoses
Cerebrotendinous Xanthomatosis
Disease, Van Bogaert-Scherer-Epstein
Van Bogaert Scherer Epstein Disease
Van Bogaert-Scherer-Epstein Disease
Xanthomatoses, Cerebrotendinous
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. 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.