Sturge-Weber syndrome

Semin Cutan Med Surg. 2004 Jun;23(2):87-98. doi: 10.1016/j.sder.2004.01.002.

Abstract

Sturge-Weber syndrome is a sporadic neurocutaneous disease characterized by facial port-wine stain, ocular abnormalities (glaucoma and choroidal hemangioma) and leptomeningeal angioma. Although the precise pathogenesis is unknown, available data regarding genetics, embryogenesis, and pathologic features are briefly reviewed. Clinical features vary from mild incomplete forms to full-blown disease with facial stain, seizures, and glaucoma. Frequencies of associated complications are reviewed. To plan treatment and further follow-up, diagnosis of glaucoma and intracranial involvement, even if asymptomatic, is fundamental in children at risk. Early neuroimaging features are important to recognize. Management of patients with Sturge-Weber syndrome is focused on treating associated neurologic and ocular abnormalities.

Publication types

  • Review

MeSH terms

  • Electroencephalography
  • Epilepsy / etiology
  • Humans
  • Magnetic Resonance Imaging
  • Sturge-Weber Syndrome / complications
  • Sturge-Weber Syndrome / diagnosis*
  • Sturge-Weber Syndrome / genetics
  • Sturge-Weber Syndrome / therapy