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.

Synonyms: Xanthomatoses, Cerebrotendinous, Van Bogaert-Scherer-Epstein Disease, Cerebrotendinous Xanthomatosis, Cerebral Cholesterinoses, Disease, Van Bogaert-Scherer-Epstein, Cerebrotendinous Xanthomatoses, Bogaert-Scherer-Epstein Disease, Van, Cerebral Cholesterinosis, Van Bogaert Scherer Epstein Disease, Xanthomatosis, Cerebrotendinous