Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy – CADASIL

• Autor(a) principal: Brondani, Rosane
• Data de Publicação: 2017
• Outros Autores: Almeida, Andrea Garcia, de Araújo, Vicenzo Zarpellon, Bianchin, Larissa, Mota, Suelen Mandelli, Krammer, Bárbara Reis, Marafon, Martina Camerini, Mazzocato, Eduardo de Carvalho, Bianchin, Marino Muxfeldt
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Clinical and Biomedical Research
• Texto Completo: https://seer.ufrgs.br/index.php/hcpa/article/view/66306
• topic: stroke; headache; migraine; CADASIL

We report here neuroimaging findings of a  41 years-old female with molecular diagnosis of CADASIL (Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). CADASIL, the most common form of hereditary stroke, is characterized by headaches and relapsing strokes. More than 95% of patients present mutations of NOTCH3 gene. MRI, the best neuroimaging modality to investigate CADASIL can show lacunar infarcts and less-well demarcated T2 weighted hyperintensities characteristically located in subcortical white matter. There is no specific treatment for CADASIL. Anti-platelet agents such as aspirin might help to prevent new strokes. Other symptoms, like headache, seizures, or other neuropsychiatric manifestations should be appropriately treated.