Sturge–weber syndrome

Anne Marie Spalding Comi, Bernard L. Maria

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Sturge-Weber syndrome (SWS) is the third most common neurocutaneous disorder but unlike neurofibromatosis or tuberous sclerosis, it is sporadic. Although clinical and imaging features are heterogeneous, there is typically the presence of a facial port-wine stain, in the ophthalmic distribution of the trigeminal nerve, glaucoma and vascular eye abnormalities, and a parieto-occipital leptomeningeal angioma ipsilateral to the cutaneous and ocular anomalies. Somatic mutation has been proposed as a possible etiology, however the putative gene(s) is unknown.

Original languageEnglish (US)
Title of host publicationTreatment of Pediatric Neurologic Disorders
PublisherCRC Press
Pages539-544
Number of pages6
ISBN (Electronic)9780849340888
ISBN (Print)0824726936, 9780824726935
StatePublished - Jan 1 2005

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Comi, A. M. S., & Maria, B. L. (2005). Sturge–weber syndrome. In Treatment of Pediatric Neurologic Disorders (pp. 539-544). CRC Press.