Cadasil and cerebral venous angioma. Clinical case and literature review

The article presents a review of scientific literature and a description of a clinical case of combined arterial and venous cerebrovascular pathology — cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and venous brain angioma. CADASIL is a rare disease of the nervous system; however, it is also the most common monogenic angiopathy of the brain, leading to the early onset of acute and chronic cerebrovascular disorders. The work reflects modern views on epidemiology, etiopathogenesis, clinic, diagnosis, and management of the described pathology. Updated data on the prevalence of typical and atypical NOTCH3 gene mutations, the significance of the accumulation of pathologically altered proteins in the vascular wall for the development of selective vasoconstriction and other stages of the cascade of pathological vascular disorders, as well as the role of pericytes in the development of genetically determined vasculopathy are presented. The results of studies of correlative relationships between NOTCH3 gene mutation variants and the clinical picture of the disease, as well as analysis of genotype and phenotype features in patients with CADASIL in different regions of the world, are shown. A retrospective analysis of modern CADASIL clinical criteria was conducted, showing high sensitivity and specificity, facilitating rapid patient screening for genetic testing to confirm the diagnosis. The use of clinical criteria as a diagnostic tool is shown in the example of our own clinical observation. The evolution of therapeutic approaches and secondary prevention of cerebrovascular lesions in the presence of CADASIL is described.