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(Stroke. 2008;39:308.)
© 2008 American Heart Association, Inc.

Original Contributions

The Cerebral Vasculopathy of PHACES Syndrome

Geoffrey L. Heyer, MD; Michael M. Dowling, MD, PhD; Daniel J. Licht, MD; Stacey Kiat-Hong Tay, MBBS; Kimberly Morel, MD; Maria C. Garzon, MD Philip Meyers, MD

From the Departments of Neurology and Pediatrics (G.L.H.) Dermatology and Pediatrics (K.M., M.C.G.), and Radiology and Neurological Surgery (P.M.), Columbia University, New York, NY; the Departments of Neurology and Pediatrics (M.M.D.), University of Texas Southwestern Medical Center and Children’s Medical Center Dallas, Dallas, Texas; the Departments of Neurology and Pediatrics (D.J.L.), The Children’s Hospital of Philadelphia, Philadelphia, Pa; and the Department of Pediatrics (S.K.-H.T.), Yong Loo Lin School of Medicine, National University of Singapore, Singapore.

Correspondence to Geoffrey L. Heyer, MD, Division of Pediatric Neurology, HP-5, 180 Ft. Washington Avenue, New York, NY 10032. E-mail gheyer{at}neuro.columbia.edu

Background and Purpose— PHACES syndrome is a neurocutaneous disorder of unknown etiology. We studied the spectrum of associated congenital and progressive cerebral vascular anomalies.

Methods— The medical records of 7 patients with PHACES syndrome were reviewed and combined with an additional 108 PHACES cases identified from the literature. We reviewed the clinical characteristics, calculated the relative frequencies of each type of vascular anomaly, and assessed site of vessel involvement relative to hemangioma location.

Results— Among a total of 115 PHACES cases, 89 (77.4%) had congenital and/or progressive cerebral vascular anomalies. The most commonly detected congenital arterial anomalies included dysplasia, aberrant origin or course, hypoplasia, and absence or agenesis. Arterial occlusions and stenoses were detected in 24 (20.9%) and 21 (18.3%) cases, respectively. Twenty (17.4%) had persistent embryonic arteries; 15 (13%) had saccular aneurysms. There appears to be a close relation between the regional distributions of cervicofacial hemangiomas and the locations of intracranial and extracranial vascular (and cardiac) anomalies.

Conclusion— The vasculopathy of PHACES chiefly comprises a spectrum of congenital and progressive large artery lesions. Based on known embryology and the relative frequencies of specific congenital vascular anomalies, we can predict that the initial cerebral vascular changes occur early in embryogenesis, by the fifth gestational week or earlier. There appears to be both a temporal and a regional link between the arterial anomalies of PHACES and the cutaneous infantile hemangioma.

Key Words: hemangioma • moyamoya • PHACE • PHACES • vasculopathy