Background and Purpose-PHACE is an acronym for posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Several case reports of arterial ischemic stroke (AIS) in individuals with PHACE have been published, but risk factors for AIS in PHACE have not been clearly defined. The objective of this article is to review all cases of stroke in PHACE in children and describe clinical characteristics that may be associated with an increased risk of AIS. Methods-A literature and registry search was conducted to identify patients with PHACE who had experienced AIS. Data were analyzed to determine age of onset, presenting signs and symptoms, and clinical features among this cohort compared with PHACE without AIS. Results-Twenty-two individuals with PHACE and AIS were identified. Imaging of the arteries of the head and neck was reported in 20 of 22. Narrowing or nonvisualization of at least 1 great cerebral vessel was present in 19 of 20 and of those, 15 had Ն2 vessels involved. Aortic arch anomalies were reported in 13 of 22 individuals. Conclusions-Aplasia, hypoplasia, or occlusion of a major cerebral artery appears to be a significant risk factor for AIS in children with PHACE, especially when Ͼ1 vessel is involved or if there is coarctation of the aorta. (Stroke. 2012;43:1672-1674.)Key Words: arterial ischemic syndrome Ⅲ hemangioma Ⅲ Pascual-Castroviejo Type II syndrome Ⅲ PHACE syndrome Ⅲ PHACES association Ⅲ propranolol F rieden coined the term PHACE syndrome to describe the association of infantile hemangiomas of the head and neck with developmental anomalies. 1 PHACE is an acronym for Posterior fossa brain malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities. Approximately 30% of infants with large, facial hemangiomas meet diagnostic criteria for definite PHACE with the most common extracutaneous finding being abnormalities of the craniocervical arteries. The relationship between arteriopathy and arterial ischemic stroke (AIS), a rare but devastating complication affecting a subset of individuals with PHACE, is poorly understood.In this study we review all known cases of PHACE-related stroke to determine age of onset, presenting symptoms, clinical characteristics, and associated comorbidities to further understand potential risk factors.
Methods
Data Extraction and Methodologic QualityAbstracts were reviewed to identify cases of stroke, and the relevant articles were reviewed in full by 3 authors. A pediatric neurologist (H.J.F.) independently reviewed the selected articles to confirm the stroke diagnosis and data regarding cerebrovascular imaging. For inclusion in this analysis, stroke was defined by (1) clinical symptoms such as sudden onset of focal neurological deficit, headaches, loss of consciousness, or seizure; and (2) CT or MRI documenting a large-territory infarct for arterial ischemic stroke or intracerebral, subarachnoid, and/or intraventricular hemorrhage in a lo...
