Cerebrotendinous Xanthomatosis: Literally an Orphan Disease in Brazil: Case Report

Abstract

Cerebrotendinous Xanthomatosis (CX) is an exceedingly rare autosomal recessive lipid storage disorder due to homozygous mutation of the mitochondrial enzyme sterol 27-hydroxylase, which is responsible for conversion of cholesterol to cholic and Chenodeoxycholic Acid (CheA), thus playing a key role in maintaining normal cholesterol levels in the body. Its clinical signs include juvenile cataracts, tendon xanthomas, premature atherosclerosis, and neurologic disturbances (dementia, pyramidal and extrapyramidal signs, ataxia, seizures, psychiatric disorders, and peripheral neuropathy).