title: Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature.
abstract: OBJECTIVE
  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 ≥ 2 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 >1 vessel is involved or if there is coarctation of the aorta.
authors.affiliation: Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA. dsiegel@mcw.edu
authors.forename: Dawn H
authors.initials: DH
authors.lastname: Siegel
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Tefft
authors.forename: Teresa
authors.initials: T
authors.lastname: Kelly
authors.forename: Craig
authors.initials: C
authors.lastname: Johnson
authors.forename: Denise
authors.initials: D
authors.lastname: Metry
authors.forename: Patricia
authors.initials: P
authors.lastname: Burrows
authors.forename: Elena
authors.initials: E
authors.lastname: Pope
authors.forename: Maria
authors.initials: M
authors.lastname: Cordisco
authors.forename: Kristen E
authors.initials: KE
authors.lastname: Holland
authors.forename: Mohit
authors.initials: M
authors.lastname: Maheshwari
authors.forename: Phillip
authors.initials: P
authors.lastname: Keith
authors.forename: Maria
authors.initials: M
authors.lastname: Garzon
authors.forename: Christopher
authors.initials: C
authors.lastname: Hess
authors.forename: Ilona J
authors.initials: IJ
authors.lastname: Frieden
authors.forename: Heather J
authors.initials: HJ
authors.lastname: Fullerton
authors.forename: Beth A
authors.initials: BA
authors.lastname: Drolet
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000792:Angiography / Q000379:methods; D001017:Aortic Coarctation / Q000150:complications / Q000000981:diagnostic imaging; D001921:Brain / Q000002:abnormalities; D015331:Cohort Studies; D005124:Eye Abnormalities / Q000150:complications / Q000000981:diagnostic imaging; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006391:Hemangioma / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D012307:Risk Factors; D020521:Stroke / Q000000981:diagnostic imaging* / Q000209:etiology*; D013577:Syndrome