Case Report
Violeta Claudia Bojinca, Te
Abstract
The tendon pathology is very complex including traumatic, inflammatory and storage disorders. Cerebrotendinous Xanthomatosis (CBX) is a rare lipid storage disorder, characterized by the accumulation of fats in various areas of the body (mainly central nervous system and tendons). A mutation in the CYP27A1 gene leads to a deficient break down of cholesterol, who is responsible to the formation of a molecule called cholestanol which accumulates in different tissues. We present the case of a young woman presenting with bilateral Achilles tendon painful swelling and mild mental retardation.