Spontaneous Coronary Artery Dissection in a Patient with Cerebrotendinous Xanthomatosis.

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 [...]