Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Abstract

   Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic hereditary disease of the small vessels of the brain caused by mutations in the NOTCH3 gene. We present the case of a 46-year-old patient whose CADASIL diagnosis was confirmed by genetic testing. In March 2023, the patient suffered an acute cerebrovascular accident with an infarction in the right midbrain tegmentum, developing diplopia when looking to the left, ataxia, followed by regression of symptoms. In June 2024, the patient's behaviour changed and weakness appeared in his right arm. An MRI revealed a subacute infarction in the basal structures of the left hemisphere of the brain, diffuse changes in the white matter of the temporal and frontal lobes, multiple small deep (lacunar) infarcts in the basal structures of both hemispheres of the cerebrum, the left thalamus, periventricular white matter, and corpus callosum. Genetic testing revealed a heterozygous mutation in the NOTCH3 gene – p.R169C (g528933696). A distinctive feature of clinical observation is the absence of migraine in patients with genetically confirmed CADASIL syndrome, as well as clinically pronounced cognitive and neuropsychological disorders.