Cerebrotendinous xanthomatosis: A report of 3 cases

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, metabolic disease affecting bile acid synthesis. CYP27A1 gene mutations result in a faulty sterol 27-hydroxylase, leading to derangements in lipid metabolism, with the accumulation of cholestanol and cholesterol in the form of xanthomas throughout the central nervous system, eyes, and tendons.1 The incidence is as high as 5 per 100,000 individuals of European ancestry, with approximately 300 reported cases worldwide.1,2 While individuals often develop signs and symptoms early in life, most are diagnosed during the fourth decade, when their disease has progressed to an advanced state.