Cervico-cerebrovascular anomalies in children with PHACE syndrome

Background: The acronym PHACE describes a rare neurocutaneous syndrome encompassing the following features: posterior fossa brain malformation, hemangioma, arterial anomalies, coarctation of aorta and cardiac defects, and eye abnormalities. This report describes the cerico-cerebrovascular anomalies (CCVA) in 7 patients with PHACE syndrome. Methods: The medical records of 7 children (4 girls and 3 boys) with the diagnosis of PHACE syndrome who underwent cranial computed tomography and magnetic resonance imaging as well as computer cerebral angiography were retrospectively studied. Results: All 7 patients had underlying CCVA. Neurologic symptoms were present in 5 of the 7 patients. CCVA included vascular stenosis and/or occlusion (n = 5), aberrant course or origin of arteries (n = 7), persistent embryonic carotid-vertebrobasilar anastomoses (n = 2) and fusiform or berry aneurysm formation (n = 5). Arterial agenesis or absence was found in 2 patients and hypoplastic arteries were present in 3 children. Conclusions: PHACE syndrome is associated with a high incidence of wide-spectrum CCVA. The most common CCVA is aberrant course or origin of arteries, followed by arterial stenosis and/or occlusion, aneurysm formation, arterial agenesis or hypoplasia and persistant carotid-vertebrobasilar anastomosis. Part of the CCVA may be associated with secondary neurologic sequelae. PHACE syndrome should be considered in any children with extensive facial hemangioma. Neuroimaging such as brain computed tomography, magnetic resonance imaging, and magnetic resonance angiography are recommended in order to search for structural cerebral defects and intracranial vascular alterations.