The Cerebral Vasculopathy of PHACES Syndrome

Abstract

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. (Stroke. 2008;39:308-316.)

Atypical Presentation of PHACE Syndrome: Hidden Facial Hemangioma

“…According to Heyer et al [7], arterial anomalies usually affect medium-and large-caliber vessels, as presented in this child, where the affected vessels are the main right cervicocranial vessels. This finding was similar to other studies; the ipsilaterality of the lesions reinforces the diagnosis, since it is almost universal in patients with the vasculopathy of this syndrome [4].…”

Bilateral pial synangiosis in a child with PHACE syndrome

“…This has resulted in some confusion between "typical and atypical" cases, as well as between PHACE(S) and conditions such as Sturge-Weber syndrome. 12,14,19,20 The relationship between conditions such as PHACE and the occurrence of sporadic hemangiomas is, at present, unclear. PHACE syndrome affects females far more often than males (9:1 female:male ratio), in contrast to sporadic hemangioma, which has a 3:1 female:male ratio.…”

“…Although the etiology is speculative, the broad spectrum of phenotypic abnormalities is explained in part by an early insult to neural crest cells and neural plate cells occurring before or early in vasculogenesis. 2,14 However, as previously outlined, 2 the precise insult, location, and timing thereof has yet to be elucidated. Despite the diagnostic and etiological challenges, consensus on criteria (major and minor) for definite and possible PHACE diagnosis has been reported.…”

“…13 Although rates of intracranial structural and cerebrovascular anomalies vary among PHACE patients, these represent the most common extracutaneous abnormalities associated with the condition, occurring in 72%-94% of patients. 13,14,19,22 The cerebrovascular anomalies found in PHACE syndrome are widely diverse, but they have been classified into 4 groups: dysplasia (including ectasia, looping, kinking, and/or fusiform dilation), narrowing (including developmental hypoplasia or agenesis and acquired stenosis or occlusion), vascular course or origin aberrancy, and persistent embryonic anastomoses. 19 Despite characterization of these vascular anomalies, little is known regarding their natural history.…”

“…Furthermore, retrospective studies have reported progressive arterial occlusions and stenosis occurring in 20.9% and 18.3% of PHACE patients, respectively, with progression being shown to occur as quickly as over the course of 1 month on follow-up neurovascular imaging. 4,14 It has been proposed that serial neuroimaging in patients with PHACE syndrome is justified given the progressive nature of the arteriopathy in some of these patients. 22 Moreover, neurosurgical revascularization procedures such as pial synangiosis could potentially reduce AIS-related morbidity and mortality.…”