Xantomatosis cerebrotendinosa. A propósito de un caso

Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive inherited lipid storage disease, characterized by the accumulation of cholesterol and cholestanol in various human tissues, especially tendons and central nervous system. The characteristic clinical features include neurologic dysfunction, tendon xanthomas, cataracts and arterial atherosclerosis. Most cases develop in the first or second decades of life, but unfortunately, the presence of the disease is usually not discovered untill the third or fourth decades. Treatment consists in the administration or chenodeoxycholic acid with privastatin or simvastatin, where early treatment may arrest the progression of the disease. We present a patient with this pathology and make a brief review of the literature. (Dermatol. Argent., 2011, 17(6): 477-480).