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

• Main Authors: Rosane Brondani, Andrea Garcia Almeida, Vicenzo Zarpellon de Araújo, Larissa Bianchin, Suelen Mandelli Mota, Bárbara Reis Krammer, Martina Camerini Marafon, Eduardo de Carvalho Mazzocato, Marino Muxfeldt Bianchin
• Format: Article
• Language: English
• Published: Hospital de Clinicas de Porto Alegre ; Universidade Federal do Rio Grande do Sul (UFRGS) 2017-01-01
• Series: Clinical and Biomedical Research
• Subjects: stroke, headache, migraine, CADASIL
• Online Access: http://seer.ufrgs.br/index.php/hcpa/article/view/66306

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.