The cerebral vasculopathy of PHACES syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
Heyer
Geoffrey L
GL
Department of Neurology, Columbia University, New York, NY 10032, USA. gheyer@neuro.columbia.edu
Dowling
Michael M
MM
Licht
Daniel J
DJ
Tay
Stacey Kiat-Hong
SK
Morel
Kimberly
K
Garzon
Maria C
MC
Meyers
Philip
P
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D002536:Cerebral Arteries / Q000002:abnormalities*; D002560:Cerebrovascular Circulation; D002675:Child, Preschool; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D013249:Sternum / Q000002:abnormalities*; D013577:Syndrome; D013684:Telangiectasis / Q000473:pathology