Abstrakt
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare, hereditary, small vessel disease caused by mutations in the NOTCH3 gene encoding a transmembrane receptor of vascular smooth muscle cells. Clinical symptoms include recurrent strokes, migraine, and dementia in mid-adulthood.
We report a patient with stroke who turned out to have CADASIL. The diagnosis was suspected because of the family history, absent vascular risk factors and magnetic resonance imaging findings with typical involvement of anterior temporal lobes, periventricular regions and external capsule.
The diagnosis of the first Czech patient with CADASIL was confirmed by electron microscopical and immunohistochemical findings in the skin biopsy specimen and by genetic analysis, which identified a novel NOTCH3 mutation. The mutation is located in an EGF-like repeat in exon 6 and it results in change of glycine 296 residue for a cysteine residue, which is typical for CADASIL.