Isolated lacunar infarct: an early clinical presentation of CADASIL?

Clinical examination revealed right-sided proportional hemiparesis, brisk deep tendon reflexes on the right side and normal blood pressure. Brain MRI showed a left capsular and thalamic infarction of 12 mm diameter on diffusion-weighted images, with an absence of white-matter abnormalities on FLAIR and T2 sequences ( fig. 1 ) or microbleeds on gradient echo imaging. Transesophageal echocardiography, intraand extracranial MRI angiography, and ECG were normal. Screening for antiphospholipid antibody syndrome and autoimmune diseases was negative. Because of the absence of cardiovascular risk factors, a genetic condition was suspected. Screening of NOTCH 3 gene was performed and revealed a pathogenic mutation in exon 22 (c.3769C>T).