ABSTRACT
Cerebrotendinous xanthomatosis (CTX), first described by van Bogaert et al in 1937, is a rare (<100 cases reported), autosomal recessive disease characterized by accumulation of cholesterol and cholestanol in tissues. CTX results from a deficiency of a hepatic microsomal enzyme necessary for primary bile acid synthesis from cholesterol. Cholestanol appears to be highly atherogenic and has been demonstrated in most tissues, including the coronary arteries. Although accelerated coronary atherosclerosis is believed to be characteristic of this lipid disorder, coronary angiographic findings have not been reported in CTX. L.S., a 39-year-old black woman, born in Mississippi, developed xanthomas of the elbows at age 9 and tendon and tuberous xanthomas later, which became progressively enlarged. She never smoked cigarettes or had neurologic symptoms, cataracts or diabetes mellitus. Endoscopic duodenal aspirate demonstrated virtually undetected amounts of chenodeoxycholic acid and 3 times normal cholestanol (normal biliary cholestanol <1% of biliary cholesterol).
