Article
Three Pediatric Siblings With CADASIL.
Pediatric neurology - 1 Apr 2022
Torres Marcela, Hamby Tyler, Tilley Jo, Schenk Allyson, Acosta Fernando, Kurjee Nehel, Russell Katherine
Abstract excerpt
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a congenital small vessel disease of the brain due to NOTCH3 gene mutations. Although adult-onset CADASIL is well documented, more cases are being described within the pediatric population. We describe three siblings with NOTCH3 mutations with various symptomatic presentations of early-onset CADASIL...
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