Cerebrotendine xantomatose: a rare and multisystemic disease still little known. When should we suspect?

Abstract

Cerebrotendinous Xanthomatosis (CTX) is a multisystemic rare autosomal-recessive congenital disease of biliary acid metabolism that leads to accumulation of cholesterol intermediates in several tissues. The main presentation of the disease is the progressive and irreversible neurological damage that begins in childhood and evolves with severe neurological dysfunction in adulthood. The patients also can present with characteristic non-neurological symptoms, such as tendinous xanthomas, cataracts beginning in childhood and chronic infantile diarrhea. In Brazil, there is no medical treatment for the disease. The main therapeutic approach to slow the progression of the disease is the multidisciplinary follow-up with the aim of improving the quality of life. Even though the symptoms begin in childhood, most patients take an average of 16 years to receive the diagnosis, at which stage neurological damage is already extensive and therapeutic approaches are no longer effective. In this study it is reported a case of a 47-years-old female patient with CTX that started her symptoms in childhood, with neurological worsening at the age of 38 and diagnosis at 44, a phase in which neurodegeneration was already severe and irreversible. Laboratory tests and Magnetic Resonance Imaging indicated characteristic alterations of the disease. It is important to have CTX as a differential diagnosis in the presence of a progressive, wide and varied neurological picture, associated with tendinous xanthomas and other specific signs and symptoms. Because it is a chronic and degenerative disease, early diagnosis is essential to establish measures to improve the quality of life.