A Rare Case of Cerebrotendinous Xanthomatosis Associated With a Mutation on COG8 Gene

Abstract

Cerebrotendinous xanthomatosis ( CTX) is a rare hereditary disease described by a mutation in the CYP27A1 gene, which encodes the sterol 27-hydroxylase enzyme involved in the synthesis of bile acid. Accumulation of cholesterol and its metabolite, cholestanol, in multiple body organs causes the symptoms of this disease. In addition, a mutation in the COG8 gene, which encodes a subunit of conserved oligomeric Golgi (COG) complex, causes another rare disorder attributed to type IIh of congenital disorder of glycosylation ( CDG). We described a rare case of CTX disorder associated with a mutation on COG8 gene, which presented by unusual symptoms.