title: PHACE syndrome is associated with intracranial cavernous malformations.
abstract: BACKGROUND
  PHACE syndrome is a neurocutaneous disorder involving large facial hemangiomas in association with posterior fossa abnormalities, cerebral arterial anomalies, cardiac defects, and eye abnormalities. A recent consensus statement has delineated criteria necessary for the diagnosis of PHACE syndrome. Extracutaneous manifestations of PHACE syndrome predominately affect the cerebrovascular system. To date, there are no reports of cerebral cavernous malformations (CCMs) in children with PHACE syndrome.
  
  
  METHODS
  We reviewed the charts of children admitted to the Children''s Hospital of Pittsburgh who met criteria for PHACE syndrome, and evaluated neuroimaging for cerebrovascular abnormalities, including the finding of CCMs.
  
  
  RESULTS
  Six children met criteria for PHACE syndrome at our institution over a 10-year period. All children were female. All children had cerebrovascular abnormalities sufficient to meet major criteria for diagnosis. Four children (66.7 %) were found incidentally to have CCMs; all lesions measured less than 5 mm at the time of diagnosis and were asymptomatic.
  
  
  CONCLUSIONS
  At present, CCMs are not listed among the diagnostic criteria for PHACE syndrome, and they have not previously been reported in association with PHACE syndrome. Hypoxic injury in utero may be the common denominator in the pathogenesis of many of the abnormalities already accepted in the criteria for PHACE syndrome and the formation of CCMs. In the setting of PHACE syndrome, we encourage clinicians to evaluate children for CCMs, which are readily apparent on the already-recommended screening MRIs.
authors.affiliation: Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, 4401 Penn Ave, Faculty Pavilion, 4th Floor, Pittsburgh, PA, 15224, USA. kafoster@gmail.com.
authors.forename: Kimberly A
authors.initials: KA
authors.lastname: Foster
authors.affiliation: Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, 4401 Penn Ave, Faculty Pavilion, 4th Floor, Pittsburgh, PA, 15224, USA.
authors.forename: William J
authors.initials: WJ
authors.lastname: Ares
authors.affiliation: Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, 4401 Penn Ave, Faculty Pavilion, 4th Floor, Pittsburgh, PA, 15224, USA.
authors.forename: Zachary J
authors.initials: ZJ
authors.lastname: Tempel
authors.affiliation: Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Andrew A
authors.initials: AA
authors.lastname: McCormick
authors.affiliation: Department of Neuroradiology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Ashok
authors.initials: A
authors.lastname: Panigrahy
authors.affiliation: Department of Plastic and Reconstructive Surgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Lorelei J
authors.initials: LJ
authors.lastname: Grunwaldt
authors.affiliation: Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, 4401 Penn Ave, Faculty Pavilion, 4th Floor, Pittsburgh, PA, 15224, USA.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Greene
mesh_terms: D001017:Aortic Coarctation / Q000150:complications* / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007223:Infant; D002538:Intracranial Arteriovenous Malformations / Q000150:complications* / Q000000981:diagnostic imaging; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000000981:diagnostic imaging
keywords: Cavernous malformation; PHACE syndrome; Pediatric