A Patient with Combined CADASIL and MTHFR Homozygosity

A Patient with Combined CADASIL and MTHFR Homozygosity

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is an inherited disorder caused by a mutation in the NOTCH 3 gene, characterized by early onset of subcortical lacunar infarcts in the absence of vascular risk factors and cerebral microbleeds.Homozygosity for the factor B2 Vitamins / Riboflavin Methylenetetrahydrofolate Reductase (MTHFR) is also associated with lacunar stroke risk and cerebral small-vessel disease regardless of the homocysteine level.The coexistence of MTHFR C677T homozygosity and NOTCH 3 mutation has never been reported in the literature previously, and that brings up the challenge Acqua Profumata of antithrombotic treatment in the presence of cerebral microbleeds.