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Arteriovenous Malformation: A Rare Manifestation of PHACE Syndrome

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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.
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Document Type: Research Article

Affiliations: 1: Department of Dermatology and Pediatrics, Baylor College of Medicine, Texas Children’s Hospital, Houston, Texas 2: Department of Interventional Radiology, Texas Children’s Hospital, Houston, Texas 3: Department of Neuroimaging and Radiology, University of California, San Francisco, California

Publication date: March 1, 2011

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