Skip to main content
SpringerLink
Log in

Sturge–Weber syndrome: an update for the pediatrician

  • Review Article
  • Published:
World Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Background

Sturge–Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by the simultaneous presence of both cutaneous and extracutaneous capillary malformations. SWS usually presents as a facial port-wine birthmark, with a varying presence of leptomeningeal capillary malformations and ocular vascular abnormalities. The latter may lead to significant neurological and ocular morbidity such as epilepsy and glaucoma. SWS is most often caused by a somatic mutation involving the G protein subunit alpha Q or G protein subunit alpha 11 gene causing various alterations in downstream signaling pathways. We specifically conducted a comprehensive review focusing on the current knowledge of clinical practices, the latest pathophysiological insights, and the potential novel therapeutic avenues they provide.

Data sources

A narrative, non-systematic review of the literature was conducted, combining expert opinion with a balanced review of the available literature. A search of PubMed, Google Scholar and Embase was conducted, using keywords “Sturge–Weber Syndrome” OR “SWS”, “Capillary malformations”, “G protein subunit alpha 11” OR “G protein subunit alpha Q”.

Results

One of the hallmark features of SWS is the presence of a port-wine birthmark at birth, and forehead involvement is most indicative for SWS. The most common ocular manifestations of SWS are glaucoma and choroidal hemangioma. Glaucoma presents in either in infancy (0–3 years of age) or later in life. Neurological complications are common in SWS, occurring in about 70%–80% of patients, with seizures being the most common one. SWS significantly impacts the quality of life for patients and their families, and requires a multidisciplinary approach for diagnosis and treatment. Currently, no disease-modifying therapies exist, and treatment is mostly focused on symptoms or complications as they arise. 

Conclusions

SWS remains a complex and heterogeneous disorder. Further research is needed to optimize diagnostic and therapeutic strategies, and to translate insights from molecular pathogenesis to clinical practice.

Graphical Abstract

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

Data availability

Not applicable.

References

  1. Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am. 1992;39:591–620.

    Article  CAS  PubMed  Google Scholar 

  2. Kanada KN, Merin MR, Munden A, Friedlander SF. A prospective study of cutaneous findings in newborns in the United States: correlation with race, ethnicity, and gestational status using updated classification and nomenclature. J Pediatr. 2012;161:240–5.

    Article  PubMed  Google Scholar 

  3. Tallman B, Tan OT, Morelli JG, Piepenbrink J, Stafford TJ, Trainor S, et al. Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics. 1991;87:323–7.

    Article  CAS  PubMed  Google Scholar 

  4. Sanchez-Carpintero I, Mihm MC, Mizeracki A, Waner M, North PE. Epithelial and mesenchymal hamartomatous changes in a mature port-wine stain: morphologic evidence for a multiple germ layer field defect. J Am Acad Dermatol. 2004;50:608–12.

    Article  PubMed  Google Scholar 

  5. Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D. Port-wine birthmarks: update on diagnosis, risk assessment for sturge-weber syndrome, and management. Pediatr Rev. 2022;43:507–16.

    Article  PubMed  Google Scholar 

  6. Van Trigt WK, Kelly KM, Hughes CCW. GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: a review of pathobiology, therapies, and current models. Front Hum Neurosci. 2022;16:1006027.

    Article  PubMed  PubMed Central  Google Scholar 

  7. Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, et al. Consensus statement for the management and treatment of port-wine birthmarks in Sturge–Weber syndrome. JAMA Dermatol. 2021;157:98–104.

    Article  PubMed  PubMed Central  Google Scholar 

  8. Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, et al. Sturge-weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368:1971–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. Kunimoto K, Yamamoto Y, Jinnin M. ISSVA classification of vascular anomalies and molecular biology. Int J Mol Sci. 2022;23:2358.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Thorpe J, Frelin LP, McCann M, Pardo CA, Cohen BA, Comi AM, et al. Identification of a mosaic activating mutation in GNA11 in atypical Sturge-Weber syndrome. J Invest Dermatol. 2021;141:685–8.

    Article  CAS  PubMed  Google Scholar 

  11. Polubothu S, Al-Olabi L, del Carmen BM, Chacko A, Eleftheriou G, Glover M, et al. GNA11 mutation as a cause of Sturge-Weber syndrome: expansion of the phenotypic spectrum of Gα/11 mosaicism and the associated clinical diagnoses. J Invest Dermatol. 2020;140:1110–3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Wang S, Pan J, Zhao M, Wang X, Zhang C, Li T, et al. Characteristics, surgical outcomes, and influential factors of epilepsy in Sturge-Weber syndrome. Brain. 2022;145:3431–43.

    Article  PubMed  Google Scholar 

  13. Nguyen V, Hochman M, Mihm MC, Nelson JS, Tan W. The pathogenesis of port wine stain and Sturge Weber syndrome: complex interactions between genetic alterations and aberrant MAPK and PI3K activation. Int J Mol Sci. 2019;20:2243.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  14. Okudaira Y, Arai H, Sato K. Hemodynamic compromise as a factor in clinical progression of Sturge-Weber syndrome. Childs Nerv Syst. 1997;13:214–9.

    Article  CAS  PubMed  Google Scholar 

  15. Aylett SE, Neville BG, Cross JH, Boyd S, Chong WK, Kirkham FJ. Sturge-Weber syndrome: cerebral haemodynamics during seizure activity. Dev Med Child Neurol. 1999;41:480–5.

    Article  CAS  PubMed  Google Scholar 

  16. Yeom SE, Comi AM. Updates on Sturge-Weber syndrome. Stroke. 2022;53:3769–79.

    Article  PubMed  Google Scholar 

  17. Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, et al. GNAQ/GNA11 mosaicism is associated with abnormal serum calcium indices and microvascular neurocalcification .J Invest Dermatol. 2024;144:820–32.e9.

    Article  PubMed  Google Scholar 

  18. Zecchin D, Knöpfel N, Gluck AK, Stevenson M, Sauvadet A, Polubothu S, et al. GNAQ/GNA11 mosaicism causes aberrant calcium signaling susceptible to targeted therapeutics. J Invest Dermatol. 2024;144:811–9.e4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  19. Moccia F, Negri S, Shekha M, Faris P, Guerra G. Endothelial Ca2+ signaling, angiogenesis and vasculogenesis: just what it takes to make a blood vessel. Int J Mol Sci. 2019;20:3962.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Comi AM. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist. 2011;17:179–84.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Yeom S, Cohen B, Weiss CR, Montano C, Wohler E, Sobreira N, et al. Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome. Am J Med Genet A. 2023;191:983–94.

    Article  CAS  PubMed  Google Scholar 

  22. Setty BA, Wusik K, Hammill AM. How we approach genetics in the diagnosis and management of vascular anomalies. Pediatr Blood Cancer. 2022;69(Suppl 3):e29320.

    Article  PubMed  Google Scholar 

  23. Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, et al. Consensus statement for the management and treatment of Sturge-Weber syndrome: neurology, neuroimaging, and ophthalmology recommendations. Pediatr Neurol. 2021;121:59–66.

    Article  PubMed  PubMed Central  Google Scholar 

  24. Sujansky E, Conradi S. Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet. 1995;57:35–45.

    Article  CAS  PubMed  Google Scholar 

  25. Waelchli R, Aylett SE, Robinson K, Chong WK, Martinez AE, Kinsler VA. New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol. 2014;171:861–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Dymerska M, Kirkorian AY, Offermann EA, Lin DD, Comi AM, Cohen BA. Size of facial port-wine birthmark may predict neurologic outcome in sturge-weber syndrome. J Pediatr. 2017;188:205–9.e1.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Kaseka ML, Bitton JY, Décarie JC, Major P. Predictive factors for epilepsy in pediatric patients with Sturge-Weber syndrome. Pediatr Neurol. 2016;64:52–8.

    Article  PubMed  Google Scholar 

  28. Boos MD, Bozarth XL, Sidbury R, Cooper AB, Perez F, Chon C, et al. Forehead location and large segmental pattern of facial port-wine stains predict risk of Sturge-Weber syndrome. J Am Acad Dermatol. 2020;83:1110–7.

    Article  PubMed  Google Scholar 

  29. Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E. Sturge-Weber syndrome: a review of pathophysiology, genetics, clinical features, and current management approache. Appl Clin Genet. 2023;16:63–81.

    Article  PubMed  PubMed Central  Google Scholar 

  30. Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, et al. A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol. 2015;72:473–80.

    Article  PubMed  Google Scholar 

  31. Gupta D, Hochman M. Capillary malformation. In: Perkins JA, Balakrishnan K, editors. Evidence-based management of head and neck vascular anomalies. Cham: Springer International Publishing; 2018. p. 149–59.

    Chapter  Google Scholar 

  32. Jordan M, Carmignac V, Sorlin A, Kuentz P, Albuisson J, Borradori L, et al. Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. J Invest Dermatol. 2020;140:1106-1110.e2.

    Article  CAS  PubMed  Google Scholar 

  33. Fry MV, Williams BK, Kim HJ, Di Nicola M. Choroidal melanoma in phakomatosis pigmentovascularis with overlapping sturge-weber syndrome and Klippel-Trenaunay syndrome. Retin Cases Brief Rep. 2023;17:130–3.

    Article  PubMed  Google Scholar 

  34. Van Raamsdonk CD, Bezrookove V, Green G, Bauer J, Gaugler L, O’Brien JM, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature. 2009;457:599–602.

    Article  PubMed  Google Scholar 

  35. Hassanpour K, Nourinia R, Gerami E, Mahmoudi G, Esfandiari H. Ocular manifestations of the Sturge-Weber syndrome. J Ophthalmic Vis Res. 2021;16:415–31.

    PubMed  PubMed Central  Google Scholar 

  36. Sharan S, Swamy B, Taranath DA, Jamieson R, Yu T, Wargon O, et al. Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome. J Am Assoc Pediatr Ophthalmol Strabismus. 2009;13:374–8.

    Article  Google Scholar 

  37. Hennedige AA, Quaba AA, Al-Nakib K. Sturge-Weber syndrome and dermatomal facial port-wine stains: Incidence, association with glaucoma, and pulsed tunable dye laser treatment effectiveness. Plast Reconstr Surg. 2008;121:1173–80.

    Article  CAS  PubMed  Google Scholar 

  38. Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus. 1992;29:349–56.

    Article  CAS  PubMed  Google Scholar 

  39. Silverstein M, Salvin J. Ocular manifestations of Sturge-Weber syndrome. Curr Opin Ophthalmol. 2019;30:301–5.

    Article  PubMed  Google Scholar 

  40. Formisano M, di Pippo MC, Scuderi L, Abdolrahimzadeh S. Current concepts on diffuse choroidal hemangioma in Sturge Weber syndrome. Ophthalmic Genet. 2021;42:375–82.

    Article  CAS  PubMed  Google Scholar 

  41. Scott IU, Alexandrakis G, Cordahi GJ, Murray TG. Diffuse and circumscribed choroidal hemangiomas in a patient with Sturge-Weber syndrome. Arch Ophthalmol. 1999;117:406–7.

    CAS  PubMed  Google Scholar 

  42. Pascual-Castroviejo I, Pascual-Pascual S-I, Velazquez-Fragua R, Viaño J. Sturge-Weber syndrome. Study of 55 patients. Can J Neurol Sci. 2008;35:301–7.

    Article  PubMed  Google Scholar 

  43. Jagtap S, Srinivas G, Harsha KJ, Radhakrishnan N, Radhakrishnan A. Sturge-Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. J Child Neurol. 2013;28:725–31.

    Article  PubMed  Google Scholar 

  44. Smegal LF, Sebold AJ, Hammill AM, Juhász C, Lo WD, Miles DK, et al. Multicenter research data of epilepsy management in patients with Sturge-Weber syndrome. Pediatr Neurol. 2021;119:3–10.

    Article  PubMed  PubMed Central  Google Scholar 

  45. Barbagallo M, Ruggieri M, Incorpora G, Pavone P, Nucifora C, Spalice A, et al. Infantile spasms in the setting of Sturge-Weber syndrome. Childs Nerv Syst. 2009;25:111–8.

    Article  PubMed  Google Scholar 

  46. Sujansky E, Conradi S. Sturge-Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol. 1995;10:49–58.

    Article  CAS  PubMed  Google Scholar 

  47. Raches D, Hiscock M, Chapieski L. Behavioral and academic problems in children with Sturge-Weber syndrome: differences between children with and without seizures. Epilepsy Behav. 2012;25:457–63.

    Article  PubMed  Google Scholar 

  48. Sudarsanam A, Ardern-Holmes SL. Sturge-Weber syndrome: From the past to the present. Eur J Paediatr Neurol. 2014;18:257–66.

    Article  PubMed  Google Scholar 

  49. Arkush L, Prabhakar P, Scott RC, Aylett SE. Headache in children with Sturge-Weber syndrome—prevalence, associations and impact. Eur J Paediatr Neurol. 2020;27:43–8.

    Article  CAS  PubMed  Google Scholar 

  50. Tillmann RP, Ray K, Aylett SE. Transient episodes of hemiparesis in Sturge Weber syndrome—causes, incidence and recovery. Eur J Paediatr Neurol. 2020;25:90–6.

    Article  PubMed  Google Scholar 

  51. Taddeucci G, Bonuccelli A, Polacco P. Migraine-like attacks in child with Sturge-Weber syndrome without facial nevus. Pediatr Neurol. 2005;32:131–3.

    Article  PubMed  Google Scholar 

  52. Iizuka T, Sakai F, Yamakawa K, Suzuki K, Suzuki N. Vasogenic leakage and the mechanism of migraine with prolonged aura in Sturge-Weber syndrome. Cephalalgia. 2004;24:767–70.

    Article  CAS  PubMed  Google Scholar 

  53. De la Torre AJ, Luat AF, Juhász C, Ho ML, Argersinger DP, Cavuoto KM, et al. A multidisciplinary consensus for clinical care and research needs for Sturge-Weber syndrome. Pediatr Neurol. 2018;84:11–20.

    Article  PubMed  PubMed Central  Google Scholar 

  54. Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth hormone deficiency in Sturge-Weber syndrome. Arch Dis Child. 2006;91:340–1.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  55. Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL. Central hypothyroidism and Sturge-Weber syndrome. Pediatr Neurol. 2008;39:58–62.

    Article  PubMed  Google Scholar 

  56. Mapara PN, Taur SM, Hadakar SG, Devendrappa SN, Gaonkar NN, Gugawad S, et al. Sturge-Weber syndrome: roots to a cure a nightmare in pediatric dentistry. Int J Clin Pediatr Dent. 2021;14:145–8.

    Article  PubMed  PubMed Central  Google Scholar 

  57. Tripathi AK, Kumar V, Dwivedi R, Saimbi CS. Sturge-Weber syndrome: oral and extra-oral manifestations. BMJ Case Rep. 2015;2015:bcr2014207663.

    Article  PubMed  PubMed Central  Google Scholar 

  58. Brightman LA, Geronemus RG, Reddy KK. Laser treatment of port-wine stains. Clin Cosmet Investig Dermatol. 2015;8:27–33.

    PubMed  PubMed Central  Google Scholar 

  59. Alegre-Sánchez A, Pérez-García B, Boixeda P. Pulsed-dye laser treatment of port-wine stains in children: useful tips to avoid general anesthesia. Pediatr Dermatol. 2017;34:619–21.

    Article  PubMed  Google Scholar 

  60. Fitzpatrick RE, Lowe NJ, Goldman MP, Borden H, Behr KL, Ruiz-Esparza J. Flashlamp-pumped pulsed dye laser treatment of port-wine status. J Dermatol Surg Oncol. 1994;20:743–8.

    Article  CAS  PubMed  Google Scholar 

  61. Chapas AM, Eickhorst K, Geronemus RG. Efficacy of early treatment of facial port wine stains in newborns: a review of 49 cases. Lasers Surg Med. 2007;39:563–8.

    Article  PubMed  Google Scholar 

  62. Updyke KM, Khachemoune A. Port-wine stains: a focused review on their management. J Drugs Dermatol. 2017;16:1145–51.

    PubMed  Google Scholar 

  63. Cantatore JL, Kriegel DA. Laser surgery: an approach to the pediatric patient. J Am Acad Dermatol. 2004;50:165–88.

    Article  PubMed  Google Scholar 

  64. Gaitan S, Markus R. Anesthesia methods in laser resurfacing. Semin Plast Surg. 2012;26:117–24.

    Article  PubMed  PubMed Central  Google Scholar 

  65. Huang N, Zeng J, Liang J, Qiu H, Wang Y, Gu Y. A randomized, double-blind, placebo-controlled study of oral oxycodone plus acetaminophen for the treatment of pain in photodynamic therapy on port wine stains. Photodiagn Photodyn Ther. 2014;11:134–40.

    Article  Google Scholar 

  66. Comi AM. Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients. Expert Rev Neurother. 2007;7:951–6.

    Article  PubMed  Google Scholar 

  67. Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, et al. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE task force on nosology and definitions. Epilepsia. 2022;63:1349–97.

    Article  PubMed  Google Scholar 

  68. Day AM, Hammill AM, Juhász C, Pinto AL, Roach ES, McCulloch CE, et al. Hypothesis: presymptomatic treatment of Sturge-Weber syndrome with aspirin and antiepileptic drugs may delay seizure onset. Pediatr Neurol. 2019;90:8–12.

    Article  PubMed  Google Scholar 

  69. Ville D, Enjolras O, Chiron C, Dulac O. Prophylactic antiepileptic treatment in Sturge-Weber disease. Seizure. 2002;11:145–50.

    Article  CAS  PubMed  Google Scholar 

  70. Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, et al. Treatment of seizures in the neonate: guidelines and consensus-based recommendations-special report from the ILAE Task Force on Neonatal Seizures. Epilepsia. 2023;64:2550–70.

    Article  CAS  PubMed  Google Scholar 

  71. Bachur CD, Comi AM. Sturge-weber syndrome. Curr Treat Options Neurol. 2013;15:607–17.

    Article  PubMed  PubMed Central  Google Scholar 

  72. Wilmshurst JM, Gaillard WD, Vinayan KP, Tsuchida TN, Plouin P, Van Bogaert P, et al. Summary of recommendations for the management of infantile seizures: TASK FORCE REPORT for the ILAE commission of pediatrics. Epilepsia. 2015;56:1185–97.

    Article  PubMed  Google Scholar 

  73. Glauser T, Ben-Menachem E, Bourgeois B, Cnaan A, Guerreiro C, Kälviäinen R, et al. Updated ILAE evidence review of antiepileptic drug efficacy and effectiveness as initial monotherapy for epileptic seizures and syndromes. Epilepsia. 2013;54:551–63.

    Article  CAS  PubMed  Google Scholar 

  74. Kaplan EH, Kossoff EH, Bachur CD, Gholston M, Hahn J, Widlus M, et al. Anticonvulsant efficacy in Sturge-Weber syndrome. Pediatr Neurol. 2016;58:31–6.

    Article  PubMed  PubMed Central  Google Scholar 

  75. Jehi L, Jette N, Kwon CS, Josephson CB, Burneo JG, Cendes F, et al. Timing of referral to evaluate for epilepsy surgery: expert consensus recommendations from the surgical therapies commission of the international league against epilepsy. Epilepsia. 2022;63:2491–506.

    Article  PubMed  PubMed Central  Google Scholar 

  76. Arzimanoglou AA, Andermann F, Aicardi J, Sainte-Rose C, Beaulieu MA, Villemure JG, et al. Sturge-Weber syndrome. Neurology. 2000;55:1472–9.

    Article  CAS  PubMed  Google Scholar 

  77. Bourgeois M, Crimmins DW, De Oliveira RS, Arzimanoglou A, Garnett M, Roujeau T, et al. Surgical treatment of epilepsy in Sturge-Weber syndrome in children. J Neurosurg Pediatr. 2007;106:20–8.

    Article  Google Scholar 

  78. Lance EI, Sreenivasan AK, Zabel TA, Kossoff EH, Comi AM. Aspirin use in Sturge-Weber syndrome: side effects and clinical outcomes. J Child Neurol. 2013;28:213–8.

    Article  PubMed  Google Scholar 

  79. Pinto AL, Chen L, Friedman R, Grant PE, Poduri A, Takeoka M, et al. Sturge-Weber syndrome: brain magnetic resonance imaging and neuropathology findings. Pediatr Neurol. 2016;58:25–30.

    Article  PubMed  Google Scholar 

  80. Kanda T, Ishii K, Kawaguchi H, Kitajima K, Takenaka D. High signal intensity in the dentate nucleus and globus pallidus on unenhanced T1-weighted MR images: relationship with increasing cumulative dose of a gadolinium-based contrast material. Radiology. 2014;270:834–41.

    Article  PubMed  Google Scholar 

  81. Hu HH, Pokorney A, Towbin RB, Miller JH. Increased signal intensities in the dentate nucleus and globus pallidus on unenhanced T1-weighted images: evidence in children undergoing multiple gadolinium MRI exams. Pediatr Radiol. 2016;46:1590–8.

    Article  PubMed  Google Scholar 

  82. Flood TF, Stence NV, Maloney JA, Mirsky DM. Pediatric brain: repeated exposure to linear gadolinium-based contrast material is associated with increased signal intensity at unenhanced T1-weighted MR imaging. Radiology. 2017;282:222–8.

    Article  PubMed  Google Scholar 

  83. Ramalho J, Ramalho M, AlObaidy M, Nunes RH, Castillo M, Semelka RC. T1 signal-intensity increase in the dentate nucleus after multiple exposures to gadodiamide: intraindividual comparison between 2 commonly used sequences. Am J Neuroradiol. 2016;37:1427–31.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  84. Roberts DR, Chatterjee AR, Yazdani M, Marebwa B, Brown T, Collins H, et al. Pediatric patients demonstrate progressive T1-weighted hyperintensity in the dentate nucleus following multiple doses of gadolinium-based contrast agent. Am J Neuroradiol. 2016;37:2340–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  85. Choi JW, Moon W-J. Gadolinium deposition in the brain: current updates. Korean J Radiol. 2019;20:134–47.

    Article  PubMed  Google Scholar 

  86. Holowka S, Shroff M, Chavhan GB. Use and safety of gadolinium based contrast agents in pediatric MR imaging. Indian J Pediatr. 2019;86:961–6.

    Article  PubMed  Google Scholar 

  87. Klapper J. Headache in Sturge-Weber syndrome. Headache. 1994;34:521–2.

    Article  CAS  PubMed  Google Scholar 

  88. Gallop F, Fosi T, Prabhakar P, Aylett SE. Flunarizine for headache prophylaxis in children with Sturge-Weber syndrome. Pediatr Neurol. 2019;93:27–33.

    Article  PubMed  Google Scholar 

  89. Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, et al. Sirolimus treatment in Sturge-Weber syndrome. Pediatr Neurol. 2021;115:29–40.

    Article  PubMed  Google Scholar 

  90. Liu L, Li X, Zhao Q, Yang L, Jiang X. Pathogenesis of port-wine stains: directions for future therapies. Int J Mol Sci. 2022;23:12139.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  91. Sasaki M, Jung Y, North P, Elsey J, Choate K, Toussaint MA, et al. Introduction of mutant GNAQ into endothelial cells induces a vascular malformation phenotype with therapeutic response to imatinib. Cancers. 2022;14:413.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

We thank M. Vantongerloo for his creative work on the design of the original illustrations.

Funding

The authors declare that no funds, grants, or other support were received during the preparation of this manuscript.

Author information

Authors and Affiliations

  1. Ghent University Faculty of Medicine and Health Sciences, Ghent, Belgium

    Emilie Dingenen & Damien Segers

  2. Department of Pediatrics, O.L.Vrouw Hospital Aalst, Moorselbaan 164, 9300, Aalst, Belgium

    Hannelore De Maeseneer & Dirk Van Gysel

  3. Interdisciplinary Unit of Pediatric Dermatology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium

    Dirk Van Gysel

Authors
  1. Emilie Dingenen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Damien Segers
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Hannelore De Maeseneer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Dirk Van Gysel
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

DE: conceptualization, writing—original draft, writing—review and editing. SD: conceptualization, writing—original draft, writing—review and editing, visualization. DMH: writing—review and editing. VGD: supervision, project administration, writing—review and editing, conceptualization. DE and SD contributed equally to this paper. 

Corresponding author

Correspondence to Dirk Van Gysel.

Ethics declarations

Conflict of interest

No financial or non-financial benefits have been received or will be received from any party related directly or indirectly to the subject of this article.

Ethical approval

The present article is a review paper and thus did not involve any new studies of human or animal subjects performed by any authors. Accordingly, specific ethical approval was not sought.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 (PDF 1282 KB)

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Dingenen, E., Segers, D., De Maeseneer, H. et al. Sturge–Weber syndrome: an update for the pediatrician. World J Pediatr (2024). https://doi.org/10.1007/s12519-024-00809-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: https://doi.org/10.1007/s12519-024-00809-y

Keywords

Search

Navigation