Dissecção Coronária Espontânea em Paciente com Xantomatose Cerebrotendinosa

• DOI: 10.36660/abc.20190456
• Publication Date: 2020-10-13T19:46:16Z
• Authors: Maria Júlia Silve...; Marcos Antônio Al...; Eduardo José Pere...; Luiz Flávio Galvã...; Joselina Luzia Me...; Antônio Carlos So...
• Keywords: Diagnosis, Imaging; Xanthomatosis Cerebrotendinous; Criança; Relato de Caso; Chenodeoxycholic Acid/adverse effects; 3. Good health; Cholestanol; 03 medical and health sciences; Cholesterol; 0302 clinical medicine; Doença da Artéria Coronariana/cirurgia; RC666-701; Diagnóstico por Imagem; Ácido Quenodesoxicólico/efeitos adversos; Diseases of the circulatory (Cardiovascular) system; Child, Adolescent; Xantomatose Cerebrotendinosa; Colestanol; Colesterol; Adolescente

Introduction Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease characterized by the formation of xanthomatous lesions in many tissues, particularly the brain and tendons. The disorder is a consequence of the reduced production of bile acids, predominantly chenodeoxycholic acid (CDCA), and an increased formation of cholestanol. Common clinical manifestations include infant-onset diarrhea and juvenile-onset bilateral cataract, usually followed by tendon xanthomas and progressive neurological dysfunction. The final diagnosis is based on biochemical abnormalities, including elevated plasma cholestanol level and increased [...]