Sturge-Weber syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20. 000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages157-168
Number of pages12
DOIs
StatePublished - 2015

Publication series

NameHandbook of Clinical Neurology
Volume132
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Keywords

  • Epilepsy
  • GNAQ
  • Glaucoma
  • Port-wine birthmark
  • Somatic mosaic mutation
  • Sturge-Weber syndrome

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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  • Cite this

    Comi, A. M. (2015). Sturge-Weber syndrome. In Handbook of Clinical Neurology (pp. 157-168). (Handbook of Clinical Neurology; Vol. 132). Elsevier B.V.. https://doi.org/10.1016/B978-0-444-62702-5.00011-1