Cerebrotendinous xanthomatosis: a rare and multisystemic disease still little known. When should we suspect?

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare, multisystemic autosomal-recessive disease of biliary acid metabolism that leads to accumulation of cholesterol intermediates in multiple tissues. Its primary presentation is progressive and irreversible neurological damage, beginning in childhood and progressing to neurological dysfunction in adulthood. There also are characteristic non-neurological symptoms, including tendinous xanthomas, cataracts beginning in childhood, and chronic infantile diarrhea. In Brazil, there is no available treatment for CTX. The primary therapeutic approach to slow disease progression is a palliative one, with multidisciplinary team. While CTX symptoms begin in childhood, most patients are diagnosed at approximately age 16, when neurological damage is extensive and therapeutic approaches are no longer effective. Here, we report a case of a 47-year-old female patient with CTX with symptoms beginning in childhood, with neurological worsening at the age of 38 and diagnosis at 44, at which neurodegeneration was already severe and irreversible. Laboratory tests and magnetic resonance imaging indicated characteristic symptoms. It is important to consider CTX as a differential diagnosis in the presence of a progressive, wide, and varied neurological picture, with tendinous xanthomas and other specific symptoms. Because it is a chronic and degenerative disease, early diagnosis is essential to establish measures to improve the quality of life.