Long-Term Trajectories of Cerebral Vasculopathy In Children With Phace Syndrome

Background: The trajectory of cerebral vasculopathy and stroke risk in patients with PHACE syndrome (PHACES) is largely unknown. We aimed to characterize cerebral vasculopathy, its long-term course, and stroke risk in patients with PHACES. Methods: Retrospective, consecutive cohort study of patients followed at the multidisciplinary PHACES clinic at the Hospital for Sick Children. Clinical and radiological rates of stroke, the characteristics of the vasculopathy, and its evolution with time were studied. Progression of vasculopathy was defined as worsening in pre-existing and/or appearance of new vascular findings. Results: Thirty-four PHACES patients were included. Overall, 5 (15%) patients had evidence of transient ischemic attack (TIA) (n=4) and/or arterial ischemic stroke (AIS) (n=2) [perinatal and watershed in one each]. Overall, 10 (29%) patients had radiological progression of vasculopathy at some point during the follow-up time with a cumulative 5-year progression-free survival of 73% and TIA/AIS-free survival of 83%. At the last follow-up, the vasculopathy stabilized in 4 patients and was still progressive in 6 (18%) patients. All patients with evidence of TIA/ ischemic stroke had progressive vasculopathy, mostly of the steno-occlusive type. Both patients with ischemic stroke had a middle cerebral artery progressive steno-occlusive disease with moyamoya-like collaterals. Three patients had aneurysms, evident from the 1st year of life, and none of them were progressive. Conclusion: The cerebrovascular disease in patients with PHACES appears to be mostly non-progressive and is associated with low rates of AIS. Larger studies are needed to better characterize the vascular disease trajectory and longer-term outcome.