Introduction Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease characterized by the formation of xanthomatous lesions in many tissues, particularly the brain and tendons. The disorder is a consequence of the reduced production of bile acids, predominantly chenodeoxycholic acid (CDCA), and an increased formation of cholestanol. Common clinical manifestations include infant-onset diarrhea and juvenile-onset bilateral cataract, usually followed by tendon xanthomas and progressive neurological dysfunction. The final diagnosis is based on biochemical abnormalities, including elevated plasma cholestanol level and increased […]