A rare metabolic disease: cerebrotendinous xanthomatosis

Abstract

Cerebrotendinous xanthomatosis is a rare autosomal recessive disorder. It occurs as a mutation in the CYP27A1 gene with nine exons in the Long arm of chromosome 2. The patient was diagnosed with epilepsy in our clinic for seven years and was diagnosed with cerebrotendinous xanthomatosis with a weakness in the lower extremities that appeared a few years ago. We think that especially it is worth mentioning that it is a rare disease in childhood and it is diagnosed early.

Keywords

• cerebrotendinous xanthomatosis
• cyp27a1 gene
• polyneuropathy
• xanthomas