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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 26:2635-2639, November-December 2005
© 2005 American Society of Neuroradiology

Case Report
HEAD AND NECK

Agenesis of Bilateral Internal Carotid Arteries and Posterior Fossa Abnormality in a Patient with Facial Capillary Hemangioma: Presumed Incomplete Phenotypic Expression of PHACE Syndrome

Young-Cheol Weon^a, Jin-Il Chung^b, Hyung-Jin Kim^a and Hong sik Byun^a

^a Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
^b Department of Radiology, Medimoa Hospital, Seoul, Korea

Address correspondence to Young-Cheol Weon, MD, Department of Diagnostic Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-Dong, Kangnam-Ku Seoul 135-710, Korea

Summary: PHACE syndrome is a neurocutaneous syndrome with the following features: posterior fossa malformations of the brain, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities. We report a rare case of bilateral internal carotid artery agenesis with transcranial collaterals from the external carotid arteries and agenesis of the vertebrobasilar system in a possible PHACE syndrome. We suggest that the patient had an incomplete phenotypic expression of the PHACE syndrome. Although the phenotypic spectrum is broad and is still largely unexplored, the extent of the cephalic neural crest cells insulted genetically or by other causes at a certain time during the development of the embryo might explain the variable phenotypic expression of PHACE syndrome.

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