Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature

World Neurosurg. 2017 Dec;108:291-302. doi: 10.1016/j.wneu.2017.08.176. Epub 2017 Sep 5.


Background: PHACE syndrome (Posterior fossa malformations, large cervicofacial infantile Hemangiomas, Arterial anomalies, aortic coarctation and Cardiac abnormalities, and Eye abnormalities) is a neurocutaneous disorder including posterior fossa malformations, hemangiomas, arterial lesions, cardiac defects, and eye abnormalities. PHACE arteriopathies may be progressive and recently have been categorized based on the risk of acute ischemic stroke, increasing attention to the potentially devastating consequences of cerebrovascular complications in this syndrome. In contrast, the natural history of arteriopathy in PHACE syndrome remains poorly understood. At the moment, there are no established surgical guidelines for high-risk vasculopathies, including quasi-moyamoya, in this syndrome.

Case description: We described the clinicoradiologic features of a small series of 6 patients with PHACE syndrome and quasi-moyamoya (5 female, age range 4 months to 12 years), focusing on the clinical course and surgical outcome of 3 children who were treated with encephaloduroarteriosynangiosis and encephalomyosynangiosis. In addition, we reviewed the radiologic, clinical, and surgical aspects of moyamoya vasculopathy in PHACE syndrome, providing information on 15 additional published cases.

Conclusions: Although the natural history of arteriopathy in PHACE syndrome is poorly understood, patients with high-risk vasculopathies, such as quasi-moyamoya disease, may benefit of revascularization by using encephaloduroarteriosynangiosis and encephalomyosynangiosis.

Keywords: Brain MRI; Encephaloduroarteriosynangiosis; Encephalomyosynangiosis; PHACE syndrome; Quasi-moyamoya disease.

Publication types

  • Review

MeSH terms

  • Aortic Coarctation / complications
  • Aortic Coarctation / diagnostic imaging*
  • Cerebral Angiography
  • Cerebral Revascularization / methods
  • Child
  • Child, Preschool
  • Eye Abnormalities / complications
  • Eye Abnormalities / diagnostic imaging*
  • Female
  • Humans
  • Imaging, Three-Dimensional
  • Infant
  • Magnetic Resonance Angiography
  • Male
  • Moyamoya Disease / complications
  • Moyamoya Disease / diagnostic imaging*
  • Moyamoya Disease / surgery
  • Neurocutaneous Syndromes / complications
  • Neurocutaneous Syndromes / diagnostic imaging*
  • Perfusion Imaging

Supplementary concepts

  • PHACE association