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Sturge-Weber syndrome

John B Bodensteiner, MD
Section Editors
Marc C Patterson, MD, FRACP
Moise L Levy, MD
Deputy Editor
John F Dashe, MD, PhD


Sturge-Weber syndrome (SWS) is a rare congenital vascular disorder characterized by facial capillary malformation (port wine stain) and associated capillary-venous malformations affecting the brain and eye. It is not a heritable disorder. Thus, recurrence is unlikely.


The cause of SWS is somatic mosaic mutations in the GNAQ gene, as identified in a study that performed whole-genome sequencing of affected and normal tissue samples from three patients with SWS [1]. This process identified a GNAQ single-nucleotide variant (c.548G→A, p.Arg183Gln) shared by affected tissue from all three patients. The mutation was also found in samples of affected tissue from 23 of 26 subjects (88 percent) with SWS and 12 of 13 subjects (92 percent) with nonsyndromic (isolated) port wine stains, but in none of 4 subjects with other cerebrovascular malformations and in none of 6 control subjects. The prevalence of the mutation in affected tissues ranged from 1 to 18 percent. These findings confirm the longstanding hypothesis that the capillary-venous malformations of SWS, historically called angiomata, result from somatic mutations in fetal ectodermal tissues that cause inappropriate control or maturation of capillary blood vessel formation [2,3].

The GNAQ gene encodes a guanine nucleotide binding protein, G-alpha-q, that functions to regulate intracellular signaling pathways. The p.Arg183Gln somatic GNAQ mutation activates a set of signalling pathways that are thought to result in either nonsyndromic port wine stains or SWS, depending upon what stage of embryonic development is affected [1]. Somatic mutations in GNAQ occurring at a later stage in embryogenesis may affect only precursors of vascular endothelial cells and lead to nonsyndromic port wine stains, while those occurring at an earlier stage may affect a greater variety of precursor cells and lead to SWS.


SWS is characterized by a facial capillary malformation (port wine stain) and an associated leptomeningeal capillary-venous malformation (leptomeningeal angioma) involving the brain and eye [4]. These vascular malformations are associated with specific neurologic and ocular abnormalities.

The neurologic features of SWS may be progressive and include seizures, focal neurologic deficits, and mental retardation. Visual field defects are common when the occipital cortex is affected. These manifestations occur with variable severity. Hydrocephalus also may occur [5]. This complication is thought to result from increased venous pressure caused by thrombosis of the deep venous channels or extensive arteriovenous anastomoses. A small proportion of patients have no neurologic abnormalities.


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Literature review current through: Sep 2016. | This topic last updated: Aug 23, 2016.
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