A case of mild CADASIL patient with a novel heterozygous NOTCH3 variant

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disease caused by mutations in the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The spectrum of clinical manifestations is broad, ranging from asymptomatic to typical ischemic stroke, and mainly depends on the location of the mutations. We describe the case of a 76-year-old female without apparent neurological deficits. However, brain magnetic resonance imaging revealed confluent lesions in the white matter. Direct sequencing of the NOTCH3 gene revealed a novel pathogenic mutation, c.811T>A, which results in a mild phenotype. Therefore, this report will expand the current knowledge in regards to the mutations that can cause CADASIL.

Acute Ischemic Stroke Caused by Detachment of Cardiac Papillary Fibroelastomas

Cardiac papillary fibroelastomas are associated with a high risk of systemic embolization in spite of benign nature. We report a case of 85-year-old patient with left supraclinoid internal carotid artery occlusion who treated with aspiration thrombectomy. Despite of the absence of residual mass on echocardiography, we could analyze pathologic specimens using retrieved embolus and confirmed cardiac papillary fibroelastoma as a rare cause of stroke.