Arteriovenous malformation: a rare manifestation of PHACE syndrome

Abstract

We present two cases of PHACE syndrome (an acronym for the neurocutaneous association of posterior fossa defects, hemangiomas, arterial anomalies, cardiac anomalies, and eye defects) associated with arteriovenous fistulae/malformation (AVF/AVM). While cerebral arterial anomalies are a main feature of this syndrome, the diagnostic criteria do not include AVF/AVM. To our knowledge, our cases are the fifth and sixth reported cases of PHACE syndrome and AVF/AVM occurring in the same patient. Given the rarity of both PHACE syndrome and AVM, and the known relationship between cerebrovascular anomalies and segmental infantile hemangioma, we suggest that the simultaneous occurrence in these patients is related.