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Sturge-Weber Syndrome

  • G. Tamburrini
  • M. Mohsen Amen
  • C. Di RoccoEmail author
Living reference work entry

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Abstract

Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis, is a rare, sporadic, neurocutaneous syndrome affecting the cephalic microvasculature. Its prevalence is actually estimated at 1 per 50,000 live births, although the identification of milder forms has recently led to an increase of this frequency estimate. Men and women are equally affected and there is no racial bias. Familial cases are rare; this aspect, together with the lack of clinical similarity in monozygotic twins, has suggested a somatic mutation as a possible mean of disease transmission. Differently from other neurocutaneous syndromes, such as von Hippel-Lindau, von Recklinghausen, and the Bourneville-Pringle disease, Sturge-Weber syndrome is not associated with intracranial neoplasms. However, in this syndrome an extensive capillary-venous malformation affecting one and occasionally both cerebral hemispheres may be associated with intractable epilepsy and progressive mental retardation, which may eventually require extensive neurosurgical procedures (lobectomy or hemispherectomy).

References

  1. Alexander GL (1972) Sturge–Weber disease. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology. The phakomatoses, vol 14. Elsevier, New York, pp 223–240Google Scholar
  2. Alkonyi B, Chugani HT, Behen M et al (2010) The role of the thalamus in neuro-cognitive dysfunction in early unilateral hemispheric injury: a multimodality imaging study of children with Sturge-Weber syndrome. Eur J Paediatr Neurol 14:425–433CrossRefPubMedPubMedCentralGoogle Scholar
  3. Arzimanoglou A, Andermann F, Aicardi J, Sainte-Rose C, Beaulieu MA, Villemure JG, Olivier A, Rasmussen T (2000) Sturge-Weber syndrome. Indications and results of surgery in 20 patients. Neurology 55:1472–1479CrossRefPubMedGoogle Scholar
  4. Bachur CD, Comi AM (2013) Sturge-Weber syndrome. Curr Treat Options Neurol 15(5):607–617CrossRefPubMedPubMedCentralGoogle Scholar
  5. Barbagallo M, Ruggieri M, Incorpora G et al (2009) Infantile spasms in the setting of Sturge-Weber syndrome. Childs Nerv Syst 25:111–118CrossRefPubMedGoogle Scholar
  6. Batista CE, Chugani HT, Hu J et al (2008) Magnetic resonance spectroscopic imaging detects abnormalities in normal-appearing frontal lobe of patients with Sturge-Weber syndrome. J Neuroimaging 18:306–313CrossRefPubMedPubMedCentralGoogle Scholar
  7. Bergstrand H, Olivecrona H, Tonnis W (1936) Gefassmissbildungen and gefassgeschwulte des gehrins. Thieme, Leipzig, p 181Google Scholar
  8. Chapieski L, Friedman A, Lachar D (2000) Psychological functioning in children and adolescents with Sturge-Weber syndrome. J Child Neurol 15(10):660–665CrossRefPubMedGoogle Scholar
  9. Comi AM (2003) Pathophysiology of Sturge-Weber syndrome. J Child Neurol 18:509–516CrossRefPubMedGoogle Scholar
  10. Cushing H (1906) Cases of spontaneous intracranial hemorrhage associated with trigeminal nevi. JAMA 47:178–183CrossRefGoogle Scholar
  11. Di Rocco C, Tamburrini G (2006) Sturge-Weber syndrome. Childs Nerv Syst 22(8):909–921CrossRefPubMedGoogle Scholar
  12. Evans AL, Widjaja E, Connolly DJ, Griffiths PD (2006) Cerebral perfusion abnormalities in children with Sturge-Weber syndrome shown by dynamic contrast bolus magnetic resonance perfusion imaging. Pediatrics 117:2119–2125CrossRefPubMedGoogle Scholar
  13. Ewen JB, Kossoff EH, Crone NE, Lin DDM, Lakshmanan BM, Ferenc LM, Comi AM (2009) Use of quantitative EEG in infants with port-wine birthmark to assess for Sturge-Weber brain involvement. Clin Neurophysiol 120(8):1433–1440CrossRefPubMedPubMedCentralGoogle Scholar
  14. Falconer MA, Rushworth RG (1960) Treatment of encephalotrigeminal angiomatosis (Sturge-Weber disease) by hemispherectomy. Arch Dis Child 35:433–447CrossRefPubMedPubMedCentralGoogle Scholar
  15. Freilinger T, Peters N, Rémi J, Linn J, Hacker M, Straube A, Pfefferkorn T (2009) A case of Sturge-Weber syndrome with symptomatic hemiplegic migraine: clinical and multimodality imaging data during a prolonged attack. J Neurol Sci 287(1–2):271–274CrossRefPubMedGoogle Scholar
  16. Gilbert DL, Sethuraman G, Kotagal U, Buncher CR (2003) Meta-analysis of EEG test performance shows wide variation among studies. Neurology 60:564–570CrossRefPubMedGoogle Scholar
  17. Goscinski I, Kunicki A (1972) On surgical treatment of Sturge-Weber syndrome. Acta Med Pol 13:229–236PubMedGoogle Scholar
  18. Griffiths PD, Coley SC, Romanowski CA et al (2003) Contrast-enhanced fluid-attenuated inversion recovery imaging for leptomeningeal disease in children. AJNR Am J Neuroradiol 24:719–723. Brain Dev. ;30:447–53PubMedGoogle Scholar
  19. Happle R (1987) Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16:899–906CrossRefPubMedGoogle Scholar
  20. Hatfield LA, Crone NE, Kossoff EH, Ewen JB, Pyzik PL, Lin DD, Comi AM (2007) Quantitative EEG asymmetry correlates with clinical severity in unilateral Sturge-Weber syndrome. Epilepsia 48(1):191–195CrossRefPubMedGoogle Scholar
  21. Horita H, Nozaki H, Hamano S, Aihara T (1990) SPECT of the brain in Sturge-Weber syndrome using N-isopropyl-p[123-I]. No To Hattatsu 22:341–348PubMedGoogle Scholar
  22. Huq AH, Chugani DC, Hukku B, Serajee FJ (2002) Evidence of somatic mosaicism in Sturge-Weber syndrome. Neurology 59:780–782CrossRefPubMedGoogle Scholar
  23. Ichinose T, Tsuyuguchi N, Morino M, Sunada I, Ohata K, Takami T, Shimonishi Y, Kwabe J, Shiomi S, Hara M (2003) Discrepancy between 18F FDG and 11C-methionine positron emission tomography findings in Sturge-Weber syndrome – case report. Neurol Med Chir 43(9):461–464CrossRefGoogle Scholar
  24. Jagtap S, Srinivas G, Harsha KJ, Radhakrishnan N, Radhakrishnan A (2013) Sturge Weber syndrome: clinical spectrum, disease course, and outcome of 30 patients. J Child Neurol 28(6):725–731CrossRefPubMedGoogle Scholar
  25. Juhasz C, Lai C, Behen ME et al (2007a) White matter volume as a major predictor of cognitive function in Sturge-Weber syndrome. Arch Neurol 64:1169–1174CrossRefPubMedGoogle Scholar
  26. Juhasz C, Haacke EM, Hu J et al (2007b) Multimodality imaging of cortical and white matter abnormalities in Sturge-Weber syndrome. AJNR Am J Neuroradiol 28:900–906PubMedGoogle Scholar
  27. Juhasz C, Batista CE, Chugani DC, Muzik O, Chugani HT (2007c) Evolution of cortical metabolic abnormalities and their clinical correlates in Sturge-Weber syndrome. Eur J Paediatr Neurol 11:277–284CrossRefPubMedPubMedCentralGoogle Scholar
  28. Kalischer S (1897) Demonstration des Gehirns eines kindes mit teleangiektasie der linksseitigen gesichts-kopfhaut und hirnoberflache. Berl Klin Wochenschr 34:1059–1067Google Scholar
  29. Klapper J (1994) Headache in Sturge-Weber syndrome. Headache 34:521–522CrossRefPubMedGoogle Scholar
  30. Kossoff EH, Buck C, Freeman JM (2002) Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology 59(1):1735–1738CrossRefPubMedGoogle Scholar
  31. Krabbe KH (1934) Facial and meningeal angiomatosis associated with calcification of the brain cortex: a clinical and anatomopathological contribution. AMA Arch Neurol Psych 32:737–755CrossRefGoogle Scholar
  32. Lin DD, Barker PB, Hatfield LA, Comi AM (2006) Dynamic MR perfusion and proton MR spectroscopic imaging in Sturge-Weber syndrome: correlation with neurological symptoms. J Magn Reson Imaging 24:274–281CrossRefPubMedGoogle Scholar
  33. Maria BL, Neufeld JA, Rosainz LC, Drane WE, Quisling RG, Ben David K, Hamed LM (1998) Central nervous system structure and function in Sturge-Weber syndrome: evidence of neurologic and radiologic progression. J Child Neurol 13:606–618CrossRefPubMedGoogle Scholar
  34. Mentzel HJ, Dieckmann A, Fitzek C, Brandl U, Reichenbach JR, Kaiser WA (2005) Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography. Pediatr Radiol 35:85–90CrossRefPubMedGoogle Scholar
  35. Miao Y, Juhász C, Wu J et al (2011) Clinical correlates of white matter blood flow perfusion changes in Sturge-Weber syndrome: a dynamic MR perfusion-weighted imaging study. AJNR Am J Neuroradiol 32:1280–1285CrossRefPubMedPubMedCentralGoogle Scholar
  36. Parsa CF (2008) Sturge-Weber syndrome: a unified pathophysiologic mechanism. Curr Treat Options Neurol 10:47–54CrossRefPubMedGoogle Scholar
  37. Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viano J (2008) Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci 35:301–307CrossRefPubMedGoogle Scholar
  38. Rappaport ZH (1988) Corpus Callosum section in the treatment of intractable seizures in the Sturge-Weber syndrome. Childs Nerv Syst 4:231–232CrossRefPubMedGoogle Scholar
  39. Roach ES (1992) Neurocutaneous syndromes. Pediatr Clin N Am 39:591–620CrossRefGoogle Scholar
  40. Rydh M, Malm M, Jernbeck J et al (1991) Ectatic blood vessels in port-wine stains lack innervation: possible role in pathogenesis. Plast Reconstr Surg 87:419–422CrossRefPubMedGoogle Scholar
  41. Schrimer R (1860) Ein fall von telangiektasie. Albrecht von Graefes. Arch Ophtalmol 7:119–121Google Scholar
  42. Sehgal V, Delproposto Z, Haacke EM et al (2005) Clinical applications of neuroimaging with susceptibility-weighted imaging. J Magn Reson Imaging 22:439–450CrossRefPubMedGoogle Scholar
  43. Sivaswamy L, Rajamani K, Juhasz C, Maqbool M, Makki M, Chugani HT (2008) The corticospinal tract in Sturge-Weber syndrome: a diffusion tensor tractography study. Brain and Development 30(7):447–453CrossRefPubMedGoogle Scholar
  44. Smoller BR, Rosen S (1986) Port-wine stains: a disease of altered neural modulation of blood vessels? Arch Dermatol 122:177–179CrossRefPubMedGoogle Scholar
  45. Sturge WA (1879) A case of partial epilepsy apparently due to a lesion of the vasomotor centers of the brain. Trans Clin Soc Lond 12:162–167Google Scholar
  46. Sudarsanam A, Ardern-Holmes SL (2014) Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 18(3):257–266CrossRefPubMedGoogle Scholar
  47. Thomas-Sohl KA, Vaslow DF, Maria BL (2004) Sturge-Weber syndrome: a review. Pediatr Neurol 30:303–310CrossRefPubMedGoogle Scholar
  48. Tuxhorn IEB, Pannek HW (2002) Epilepsy surgery in bilateral Sturge-Weber syndrome. Pediatr Neurol 26(5):394–397CrossRefPubMedGoogle Scholar
  49. Udani V, Pujar S, Munot P, Maheshwari S, Mehta N (2007) Natural history and magnetic resonance imaging follow-up in 9 Sturge-Weber syndrome patients and clinical correlation. J Child Neurol 22:479–483CrossRefPubMedGoogle Scholar
  50. Vainionpää LK, Mikkonen K, Rättyä J, Knip M, Pakarinen AJ, Myllylä VV, Isojärvi JI (2004) Thyroid function in girls with epilepsy with carbamazepine, oxcarbazepine, or valproate monotherapy and after withdrawal of medication. Epilepsia 45(3):197–203CrossRefPubMedGoogle Scholar
  51. Weber FP (1922) Right-sided hemi-hypertrophy resulting from right sided congenital spastic hemiplegia. J Neurol Psychopathol 3:134–139CrossRefPubMedPubMedCentralGoogle Scholar
  52. Zolkipli Z, Aylett S, Rankin PM, Neville BGR (2007) Transient exacerbation of hemiplegia following minor head trauma in Sturge-Weber syndrome. Dev Med Child Neurol 49(9): 697–699CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Pediatric NeurosurgeryCatholic University Medical SchoolRomeItaly
  2. 2.Pediatric NeurosurgeryInternational Neuroscience InstituteHannoverGermany

Section editors and affiliations

  • Concezio Di Rocco
    • 1
  • Gianpiero Tamburrini
    • 2
  1. 1.International Neuroscience InstituteHannoverGermany
  2. 2.Pediatric NeurosurgeryFondazione Policlinico Universitario A. Gemelli, Catholic University Medical SchoolRomeItaly

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