PP04.9 – 2616: Stroke and progressive cerebral vasculopathy in PHACE syndrome

Objective To contribute to current understanding of PHACE syndrome which is limited to case series reports in literature. Methods We present on outcome of a patient who suffered a single cerebrovascular event in infancy and had evidence of progressive cerebral vasculopathy over time. Results A female patient born at term had prominent plaque haemangioma (involving face, neck, trachea, mediastinum) and staphyloma of the left eye associated with amblyopia. She required tracheostomy in infancy and subsequent tracheal reconstruction. At seven months she presented with right focal seizure, mild ipsilateral hemiparesis, and large left middle cerebral artery infarct on MRI. She then developed recurrent headaches and repeat MRI/MRA at 5 years showed absent distal left internal carotid artery (ICA) and right supraclinoid ICA, presence of both occlusive and ectatic vascular disease in the intracranial circulation, and extensive collaterals. A diagnosis of PHACE syndrome (posterior fossa malformations, haemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal cleft and supra-umbilical raphe syndrome) was made on the basis of facial haemangioma and classical cerebral vasculopathy. She did not have sternal cleft or supra-umbilical raphe. Serial echocardiography was unremarkable. Over the subsequent 10 years, she has continued to have recurrent headaches associated with normal development. MRI has shown progression of the aneurysmal segments of the left posterior communicating artery and surgical revascularisation is being considered. Conclusion The majority of PHACE cases with arterial ischaemic stroke (AIS) have aplasia, hypoplasia and/or occlusion of a major cervical or cerebral artery. As in this patient the infarcted area often correlates with the site of ICA vasculopathy. Though the role of cerebral vasculopathy in causation of AIS is unclear, the three mechanisms proposed are dysplastic or stenotic anomaly, ischaemia and cardioembolism. Outcome correlates with progressive vasculopathy, which may lead to infarction and aneurysmal rupture.