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Difficulties in Diagnosis and Treatment of a Case of Cerebrotendinous Xanthomatosis (CBX)

Violeta Claudia Bojinca, Teodora Serban, Oana Vutcanu, Catrina E, Degeratu D, Predescu G, Mihaela Milicescu and Mihai Bojinca

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.