Sturge-Weber Syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Sturge-Weber syndrome (SWS) is a sporadic, congenital, neurocutaneous disorder caused in most cases by an activating R183Q somatic mutation in GNAQ. The condition is usually defined by two or three of the following symptoms: a port-wine birthmark (PWB) in the ophthalmic division of the trigeminal nerve, a vascular malformation in the brain (leptomeningeal angiomatosis), and/or abnormal blood vessels in the eye causing increased ocular pressure (glaucoma). About 10% of cases of SWS have the typical brain involvement without the port-wine birthmark. Sturge-Weber syndrome is also linked to seizures, stroke-like episodes, hemiparesis, growth hormone deficiency, and visual field cuts, along with cognitive impairment. This cognitive deficit can manifest in a range of impairments from the mildest of symptoms, such as mild attention deficit disorder to severe neurological deterioration. The genetics, etiology, clinical characteristics, diagnosis, therapy options, prognosis, and future prospects are described in this chapter.

Original languageEnglish (US)
Title of host publicationNeurocutaneous Disorders
Subtitle of host publicationA Clinical, Diagnostic and Therapeutic Approach: Third Edition
PublisherSpringer International Publishing
Pages83-96
Number of pages14
ISBN (Electronic)9783030878931
ISBN (Print)9783030878924
DOIs
StatePublished - Jan 1 2022

Keywords

  • Activating somatic mutation
  • Glaucoma
  • GNAQ
  • Leptomeningeal angiomatosis
  • Port-wine birthmarks
  • Sturge-Weber syndrome

ASJC Scopus subject areas

  • General Medicine
  • General Biochemistry, Genetics and Molecular Biology

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