Adult presentation of PHACES syndrome

Interv Neuroradiol. 2011 Jun;17(2):137-46. doi: 10.1177/159101991101700201. Epub 2011 Jun 20.

Abstract

A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aortic Coarctation / diagnostic imaging
  • Aortic Coarctation / pathology*
  • Cerebral Angiography
  • Cerebrovascular Disorders / diagnostic imaging
  • Cerebrovascular Disorders / pathology*
  • Cranial Fossa, Posterior / abnormalities*
  • Cranial Fossa, Posterior / diagnostic imaging
  • Diffusion Magnetic Resonance Imaging
  • Eye Abnormalities / diagnostic imaging
  • Eye Abnormalities / pathology*
  • Female
  • Hemangioma / pathology*
  • Humans
  • Neurocutaneous Syndromes / diagnostic imaging
  • Neurocutaneous Syndromes / pathology*
  • Tomography, X-Ray Computed

Supplementary concepts

  • PHACE association