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Sturge-Weber Syndrome
Gilbert V├ęzina, MD; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Abbreviations

              • Sturge-Weber syndrome (SWS)
            • Synonyms

              • Sturge-Weber-Dimitri, encephalotrigeminal angiomatosis
            • Definitions

              • Usually sporadic congenital (but not inherited) malformation in which fetal cortical veins fail to develop normally
                • Imaging features are sequelae of progressive venous occlusion and chronic venous ischemia

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Angiographic Findings

                        • Nuclear Medicine Findings

                          • Imaging Recommendations

                            DIFFERENTIAL DIAGNOSIS

                              PATHOLOGY

                              • General Features

                                • Staging, Grading, & Classification

                                  • Microscopic Features

                                    CLINICAL ISSUES

                                    • Presentation

                                      • Demographics

                                        • Natural History & Prognosis

                                          • Treatment

                                            DIAGNOSTIC CHECKLIST

                                            • Consider

                                              • Image Interpretation Pearls

                                                Selected References

                                                1. Dutkiewicz AS et al: A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol. 72(3):473-80, 2015
                                                2. Tripathi AK et al: Sturge-Weber syndrome: oral and extra-oral manifestations. BMJ Case Rep. 2015, 2015
                                                3. Nakashima M et al: The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet. 59(12):691-3, 2014
                                                4. Ragupathi S et al: Sturge-Weber syndrome: CT and MRI illustrations. BMJ Case Rep. 2014, 2014
                                                5. Cagneaux M et al: Pre- and postnatal imaging of early cerebral damage in Sturge-Weber syndrome. Pediatr Radiol. 43(11):1536-9, 2013
                                                6. Fogarasi A et al: Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 66(1-2):53-7, 2013
                                                7. Jeong JW et al: Quantitative Assessment of Brain Networks in Children With Sturge-Weber Syndrome Using Resting State Functional Magnetic Resonance Imaging (MRI). J Child Neurol. 28(11):1448-1455, 2013
                                                8. Prabhu SP: Imaging parameters are important to completely rule out Sturge-Weber syndrome. Pediatr Neurol. 49(1):e1, 2013
                                                9. Shirley MD et al: Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 368(21):1971-9, 2013
                                                10. Siri L et al: Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases. Eur J Paediatr Neurol. 17(1):91-6, 2013
                                                11. Lo W et al: Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Dev Med Child Neurol. 2012 Mar;54(3):214-23. Epub 2011 Dec 23. Review. Erratum in: Dev Med Child Neurol. 54(10):957, 2012
                                                12. Hu J et al: MR susceptibility weighted imaging (SWI) complements conventional contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber Syndrome. J Magn Reson Imaging. 28(2):300-7, 2008
                                                13. Comi AM: Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients. Expert Rev Neurother. 7(8):951-6, 2007
                                                14. Di Rocco C et al: Sturge-Weber syndrome. Childs Nerv Syst. 22(8):909-21, 2006
                                                15. Evans AL et al: Cerebral perfusion abnormalities in children with Sturge-Weber syndrome shown by dynamic contrast bolus magnetic resonance perfusion imaging. Pediatrics. 117(6):2119-25, 2006
                                                16. Comi AM et al: Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue. Pediatr Res. 53(5):762-9, 2003
                                                17. Pfund Z et al: Quantitative analysis of gray- and white-matter volumes and glucose metabolism in Sturge-Weber syndrome. J Child Neurol. 18(2):119-26, 2003
                                                Related Anatomy
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                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Pathology

                                                      • Clinical Issues

                                                        • Diagnostic Checklist

                                                          TERMINOLOGY

                                                          • Abbreviations

                                                            • Sturge-Weber syndrome (SWS)
                                                          • Synonyms

                                                            • Sturge-Weber-Dimitri, encephalotrigeminal angiomatosis
                                                          • Definitions

                                                            • Usually sporadic congenital (but not inherited) malformation in which fetal cortical veins fail to develop normally
                                                              • Imaging features are sequelae of progressive venous occlusion and chronic venous ischemia

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Ultrasonographic Findings

                                                                    • Angiographic Findings

                                                                      • Nuclear Medicine Findings

                                                                        • Imaging Recommendations

                                                                          DIFFERENTIAL DIAGNOSIS

                                                                            PATHOLOGY

                                                                            • General Features

                                                                              • Staging, Grading, & Classification

                                                                                • Microscopic Features

                                                                                  CLINICAL ISSUES

                                                                                  • Presentation

                                                                                    • Demographics

                                                                                      • Natural History & Prognosis

                                                                                        • Treatment

                                                                                          DIAGNOSTIC CHECKLIST

                                                                                          • Consider

                                                                                            • Image Interpretation Pearls

                                                                                              Selected References

                                                                                              1. Dutkiewicz AS et al: A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol. 72(3):473-80, 2015
                                                                                              2. Tripathi AK et al: Sturge-Weber syndrome: oral and extra-oral manifestations. BMJ Case Rep. 2015, 2015
                                                                                              3. Nakashima M et al: The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. J Hum Genet. 59(12):691-3, 2014
                                                                                              4. Ragupathi S et al: Sturge-Weber syndrome: CT and MRI illustrations. BMJ Case Rep. 2014, 2014
                                                                                              5. Cagneaux M et al: Pre- and postnatal imaging of early cerebral damage in Sturge-Weber syndrome. Pediatr Radiol. 43(11):1536-9, 2013
                                                                                              6. Fogarasi A et al: Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 66(1-2):53-7, 2013
                                                                                              7. Jeong JW et al: Quantitative Assessment of Brain Networks in Children With Sturge-Weber Syndrome Using Resting State Functional Magnetic Resonance Imaging (MRI). J Child Neurol. 28(11):1448-1455, 2013
                                                                                              8. Prabhu SP: Imaging parameters are important to completely rule out Sturge-Weber syndrome. Pediatr Neurol. 49(1):e1, 2013
                                                                                              9. Shirley MD et al: Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 368(21):1971-9, 2013
                                                                                              10. Siri L et al: Clinical features of Sturge-Weber syndrome without facial nevus: five novel cases. Eur J Paediatr Neurol. 17(1):91-6, 2013
                                                                                              11. Lo W et al: Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Dev Med Child Neurol. 2012 Mar;54(3):214-23. Epub 2011 Dec 23. Review. Erratum in: Dev Med Child Neurol. 54(10):957, 2012
                                                                                              12. Hu J et al: MR susceptibility weighted imaging (SWI) complements conventional contrast enhanced T1 weighted MRI in characterizing brain abnormalities of Sturge-Weber Syndrome. J Magn Reson Imaging. 28(2):300-7, 2008
                                                                                              13. Comi AM: Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients. Expert Rev Neurother. 7(8):951-6, 2007
                                                                                              14. Di Rocco C et al: Sturge-Weber syndrome. Childs Nerv Syst. 22(8):909-21, 2006
                                                                                              15. Evans AL et al: Cerebral perfusion abnormalities in children with Sturge-Weber syndrome shown by dynamic contrast bolus magnetic resonance perfusion imaging. Pediatrics. 117(6):2119-25, 2006
                                                                                              16. Comi AM et al: Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue. Pediatr Res. 53(5):762-9, 2003
                                                                                              17. Pfund Z et al: Quantitative analysis of gray- and white-matter volumes and glucose metabolism in Sturge-Weber syndrome. J Child Neurol. 18(2):119-26, 2003