This patient was a 6-year old female with history of stroke and TIAs. Images demonstrate characteristic cerebral vascular anomalies for this genotype, which was confirmed on genetic testing. ACTA2 mutation results in multisystem smooth muscle dysfunction, which can result in cerebral arteriopathy and present as a pediatric stroke. An important distinguishing feature from Moyamoya vasculopathy is the lack of lenticulostriate collateral in this condition.
Patient underwent an encephaloduroarteriosynangiosis (EDAS) to indicate blood flow the cerebrum and has improved clinically.