Initial screening, follow-up, and referral of patients with PHACE syndrome

PHACE: posterior fossa anomalies, hemangiomas, arterial anomalies, cardiac anomalies, and eye anomalies; MRI: magnetic resonance imaging; MRA: magnetic resonance angiography.
* Ocular abnormalities that have been associated with PHACE syndrome:

• Retinal vascular abnormalities
• Persistent fetal vasculature
• Iris vessel hypertrophy
• "Morning-glory" disc
• Peripapillary staphyloma
• Optic nerve hypoplasia
• Microphthalmia
• Coloboma
• Congenital cataracts
• Sclerocornea
• Iris hypoplasia
• Exophthalmos
• Congenital third nerve palsy
• Horner syndrome

¶ Risk stratification in patients with PHACE syndrome based on severity of cerebral arterial anomalies:

• Low risk:
  • Anomalous origin of arteries
  • Variants in the circle of Willis
  • Persistent fetal vessels
• Intermediate risk:
  • Narrowing proximal to the circle of Willis but intact circle of Willis
  • Stenosis of the proximal internal carotid artery if there is normal collateral flow in anterior cerebral artery and posterior cerebral artery
• High risk:
  • >25% narrowing of principal cerebral vessels in association with an incomplete circle of Willis
  • Tandem stenosis that causes a risk of diminished cerebral perfusion
  • Signs of chronic or silent ischemia, existing infarction, border zone ischemic changes, presence of lenticulostriate collateral dilation, pial collaterals