Diagnóstico por imagem de arteriopatia cerebral associada a mutação ACTA2: relato de caso

Abstract

Objectives: To describe the radiological characteristics that allow the recognition of cerebral arteriopathy cssociated with ACTA2 mutation in magnetic resonance imaging. Methodology: Magnetic resonance (MRI) and magnetic resonance angiography of the brain (MRA) images were analyzed. Results: Female patient, 19 years old, with cognitive deficit and occipital headache, evolving with paraparesis on the right and bilateral amaurosis. She had brain MRI and MRA performed, which showed characteristic findings: arterial structures rectification, hypoplasia and anterior bending of the corpus callosum, “V” aspect of the corpus callosum genu and prominent impression of the basilar artery over the pons. Signal alteration foci were also seen in the right frontal vascular border area. Conclusion: ACTA2 mutations are rare and are characterized by systemic smooth muscle dysfunction, causing cerebrovascular changes, aortic dissections and aneurysms, pulmonary hypertension, among others. Cerebral arteriopathy is responsible for episodes of stroke in childhood, being characterized by rectification of arterial structures and progressive occlusion of the terminal internal carotid arteries and their branches. It has unique image characteristics, which differentiate it from Moya- Moya disease, as described above. Radiologists must, therefore, recognize these findings since the correct diagnosis has important implications for management and prognosis.