Phace syndrome with anomalous circle of Willis, absent cervical vertebral and internal carotid arteries

Introduction: The PHACE syndrome is a neurocutaneous disorder, acronym coined in referring to the main characteristics: Posterior fossa malformations, infantile Hemangiomas, extra and intracranial Arterial anomalies, aortic Coarctation, Eye abnormalities and middle-line malformations of the Sternum, chest wall and abdomen.

Case Report: A 3-year-old girl with right throat hemangioma, cognitive delay, visual impairment and congenital nose defect. Digital subtraction angiography (DSA) showed: aortogram with hypoplasic right neck vessels and left vessels dominance; right common carotid artery (CCA) and aberrant ascending cervical artery with intracranial path; agenesis of the cervical right internal carotid artery (ICA) and ipsilateral vertebral artery (VA); right external carotid artery (ECA) was therefore the continuation of the right CCA, compatible with hemangioma extending up to 8cm; The cervical left CCA was ectasic, but in supraclinoid segment the left posterior communicating artery had fetal pattern. The left VA irrigated the contralateral hypoplastic V4 segment. The patient was treated with propranolol without additional symptoms or neurological deficits in a 3-years follow-up.

Discussion: In the described case, although the hemangioma was not apparent in the skin, it was located in throat and DSA showed the real size. The patient presented also 4 other major criteria fitting the request to diagnose: (a) dysplasia of large cerebral arteries (PCA); (b) absence of large-caliber cerebral arteries (right ICA and VA); (c) origin or aberrant path of large-caliber cerebral arteries (right ascending cervical artery); and (d) cerebral aneurysm. These hemangiomas, specifically when larger than 5cm, should raise the possibility of PHACE syndrome. Posterior fossa malformations include Dandy-Walker and cerebellar hypoplasia4. The main ophthalmological alterations were microphthalmia, optic nerve hypoplasia, persistent fetal vasculature, congenital cataract, heterochromia and refractive error4. Cognitive delay as in our patient was observed in studies, especially affecting speech, being one of the less discussed aspects within the PHACE syndrome. Treatment options for infantile hemangiomas also include corticosteroids.

Conclusion: This report demonstrates the wide polymorphism of PHACE syndrome, and this diagnose should be remembered in pediatric patients presenting with facial hemangioma larger than 5cm.