Pathophysiology of Sturge-Weber syndrome

J Child Neurol. 2003 Aug;18(8):509-16. doi: 10.1177/08830738030180080701.

Abstract

Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Children with Sturge-Weber syndrome often develop progressive neurologic problems. Data on the pathophysiology of Sturge-Weber syndrome are briefly reviewed. The embryologic, genetic, and pathologic considerations are discussed, as are theories regarding the mechanisms of the degenerative brain changes. Sturge-Weber syndrome likely results from an early embryologic malformation of vascular development affecting the development of the nearby skin, eye, and brain structures. Studies suggest that complex molecular interactions contribute to the abnormal development and function of blood vessels in Sturge-Weber syndrome. Neurologic deterioration in Sturge-Weber syndrome is likely secondary to impaired blood flow to the brain and is worsened by the presence of seizures. Insights from related areas are discussed, and future research studies are suggested.

Publication types

  • Review

MeSH terms

  • Blood Vessels / physiopathology
  • Cerebrovascular Circulation
  • Humans
  • Neurodegenerative Diseases / physiopathology
  • Seizures / physiopathology
  • Sturge-Weber Syndrome / embryology
  • Sturge-Weber Syndrome / genetics
  • Sturge-Weber Syndrome / pathology
  • Sturge-Weber Syndrome / physiopathology*