Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoancepahlopathy (CADASIL) due to ∼200 identified mutations in NOTCH 3 gene (chromosome 19) is the most common cause of inherited cerebral small vessel disease, inherited stroke and inherited vascular cognitive decline . Typically, symptom onset is with migraine with aura at about the age of 30 years or early stroke at 41–50 years.
Neuroimaging features include multiple and/or confluent ischemic lesions in the white matter and basal ganglia with characteristic involvement of the anterior temporal white matter and external capsule, usually in the absence of classical cardiovascular risk factors, such as hypertension, diabetes and dyslipidemia. As the disease progresses and ischemic lesion load increases, psychiatric–behavioral manifestations and cognitive decline become evident as well as bilateral pyramidal and pseudobulbar signs, leading to dementia, significant motor disability and premature death usually at or before 65–70 years [1,2]. A significant phenotypic variation exists among different families carrying the same mutation and even among patients of the same family, leading to deviations from the above described patterns, unusual presenting features and diagnostic difficulties. We present a CADASIL patient from a novel Greek family with atypical clinical and imaging features that have caused delay in the diagnosis.