Fetal Familial Cerebral Cavernous Malformation With a Novel Heterozygous KRIT1 Variation.
Dan ChengXiang ShangWanli GaoFrederik BarkhofYaou LiuPublished in: Neurology (2021)
This variation of the initial codon in the KRIT1 gene leads to a phenotype with an early-onset. To our knowledge, this is the first-ever reported case of fetal familial CCM and this novel variation. Brain MRI has excellent sensitivity and specificity, providing the best option for detecting CCMs, even in utero, primarily when SWI is used.