Sturge–Weber syndrome: advances in diagnostic testing and treatment

References

• Nathan N, Thaller SR. Sturge–Weber syndrome and associated congenital vascular disorders: a review. J. Craniofac. Surg.17(4), 724–728 (2006).
   PubMedGoogle Scholar
• Sullivan TJ, Clarke MP, Morin JD. The ocular manifestations of the Sturge–Weber syndrome. J. Pediatr. Ophthalmol. Strabismus29(6), 349–356 (1992).
   PubMed Web of Science ®Google Scholar
• Sujansky E, Conradi S. Outcome of Sturge–Weber syndrome in 52 adults. Am. J. Med. Genet. (1), 35–45 (1995).
   PubMedGoogle Scholar
• Di Rocco C, Tamburrini G. Sturge–Weber syndrome. Childs Nerv. Syst.22(8), 909–921 (2006).
   PubMedGoogle Scholar
• Tallman B, Tan OT, Morelli JG et al. Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics87(3), 323–327 (1991).
   PubMed Web of Science ®Google Scholar
• Pascual-Castroviejo I, Díaz-Gonzalez C, García-Melian RM, Gonzalez-Casado I, Muñoz-Hiraldo E. Sturge–Weber syndrome: study of 40 patients. Pediatr. Neurol.9(4), 283–288 (1993).
   PubMed Web of Science ®Google Scholar
• Boltshauser E, Wilson J, Hoare RD. Sturge–Weber syndrome with bilateral intracranial calcification. J. Neurol. Neurosurg. Psychiatry39(5), 429–435 (1976).
   PubMedGoogle Scholar
• Baselga E. Sturge–Weber syndrome. Semin. Cutan. Med. Surg.23(2), 87–98 (2004).
   PubMed Web of Science ®Google Scholar
• Mentzel HJ, Dieckmann A, Fitzek C, Brandl U, Reichenbach JR, Kaiser WA. Early diagnosis of cerebral involvement in Sturge–Weber syndrome using high-resolution BOLD MR venography. Pediatr. Radiol.35(1), 85–90 (2005).
   PubMed Web of Science ®Google Scholar
• Griffiths PD, Coley SC, Romanowski CA, Hodgson T, Wilkinson ID. Contrast-enhanced fluid-attenuated inversion recovery imaging for leptomeningeal disease in children. Am. J. Neuroradiol.24(4), 719–723 (2003).
   PubMed Web of Science ®Google Scholar
• Juhasz C, Batista CE, Chugani DC, Muzik O, Chugani HT. Evolution of cortical metabolic abnormalities and their clinical correlates in Sturge–Weber syndrome. Eur. J. Paediatr. Neurol.11(5), 277–284 (2007).
   PubMed Web of Science ®Google Scholar
• Lin DD, Barker PB, Kraut MA, Comi A. Early characteristics of Sturge–Weber syndrome shown by perfusion MR imaging and proton MR spectroscopic imaging. Am. J. Neuroradiol.24(9), 1912–1915 (2003).
   PubMed Web of Science ®Google Scholar
• Lin DD, Barker PB, Hatfield LA, Comi AM. Dynamic MR perfusion and proton MR spectroscopic imaging in Sturge–Weber syndrome: correlation with neurological symptoms. J. Magn. Reson. Imaging24(2), 274–281 (2006).
   PubMed Web of Science ®Google Scholar
• Akpinar E. The tram-track sign: cortical calcifications. Radiology231(2), 515–516 (2004).
   PubMed Web of Science ®Google Scholar
• Welch K, Naheedy MH, Abroms IF, Strand RD. Computed tomography of Sturge–Weber syndrome in infants. J. Comput. Assist. Tomogr.4(1), 33–36 (1980).
   PubMedGoogle Scholar
• Martí-Bonmatí L, Menor F, Poyatos C, Cortina H. Diagnosis of Sturge–Weber syndrome: comparison of the efficacy of CT and MR imaging in 14 cases. Am. J. Roentgenol.158(4), 867–871 (1992).
   PubMedGoogle Scholar
• Duncan DB, Herholz K, Pietrzyk U, Heiss WD. Regional cerebral blood flow and metabolism in Sturge–Weber disease. Clin. Nucl. Med.20(6), 522–523 (1995).
   PubMed Web of Science ®Google Scholar
• Hatfield LA, Crone NE, Kossoff EH et al. Quantitative EEG asymmetry correlates with clinical severity in unilateral Sturge–Weber syndrome. Epilepsia48(1), 191–195 (2007).
   PubMed Web of Science ®Google Scholar
• Bourgeois M, Crimmins DW, de Oliveira RS et al. Surgical treatment of epilepsy in Sturge–Weber syndrome in children. J. Neurosurg.106(1 Suppl.), 20–28 (2007).
   PubMed Web of Science ®Google Scholar
• Sujansky E, Conradi S. Sturge–Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. J. Child Neurol.10(1), 49–58 (1995).
   PubMed Web of Science ®Google Scholar
• Oakes WJ. The natural history of patients with the Sturge–Weber syndrome. Pediatr. Neurosurg.18(5–6), 287–290 (1992).
   PubMedGoogle Scholar
• Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge–Weber syndrome: a review. Pediatr. Neurol.30(5), 303–310 (2004).
   PubMed Web of Science ®Google Scholar
• Kossoff EH, Buck C, Freeman JM. Outcomes of 32 hemispherectomies for Sturge–Weber syndrome worldwide. Neurology59(11), 1735–1738 (2002).
   PubMed Web of Science ®Google Scholar
• Hoffman HJ, Hendrick EB, Dennis M, Armstrong D. Hemispherectomy for Sturge–Weber syndrome. Childs Brain5(3), 233–248 (1979).
   PubMedGoogle Scholar
• Enjolras O, Riche MC, Merland JJ. Facial port-wine stains and Sturge–Weber syndrome. Pediatrics76(1), 48–51 (1985).
   PubMed Web of Science ®Google Scholar
• Ogunmekan AO, Hwang PA, Hoffman HJ. Sturge–Weber–Dimitri disease: role of hemispherectomy in prognosis. Can. J. Neurol. Sci.16(1), 78–80 (1989).
   PubMedGoogle Scholar
• Ville D, Enjolras O, Chiron C, Dulac O. Prophylactic antiepileptic treatment in Sturge–Weber disease. Seizure11(3), 145–150 (2002).
   PubMed Web of Science ®Google Scholar
• Chugani HT, Phelps ME, Mazziotta JC. Positron emission tomography study of human brain functional development. Ann. Neurol.22(4), 487–497 (1987).
   PubMed Web of Science ®Google Scholar
• Chugani HT. A critical period of brain development: studies of cerebral glucose utilization with PET. Prev. Med.27(2), 184–188 (1998).
   PubMed Web of Science ®Google Scholar
• Huikeshoven M, Koster PH, de Borgie CA, Beek JF, van Gemert MJ, van der Horst CM. Redarkening of port-wine stains 10 years after pulsed-dye-laser treatment. N. Engl. J. Med.356(12), 1235–1240 (2007).
   PubMedGoogle Scholar
• van der Horst CM, Koster PH, de Borgie CA, Bossuyt PM, van Gemert MJ. Effect of the timing of treatment of port-wine stains with the flash-lamp-pumped pulsed-dye laser. N. Engl. J. Med.338(15), 1028–1033 (1998).
   PubMed Web of Science ®Google Scholar
• Soueid A, Waters R. Re-emergence of port wine stains following treatment with flashlamp-pumped dye laser 585 nm. Ann. Plast. Surg.57(3), 260–263 (2006).
   PubMedGoogle Scholar
• Orten SS, Waner M, Flock S, Roberson PK, Kincannon J. Port-wine stains. An assessment of 5 years of treatment. Arch. Otolaryngol. Head Neck Surg.122(11), 1174–1179 (1996).
   PubMedGoogle Scholar
• Mørk NJ, Austad J, Helsing P et al. Do port wine stains recur after successful treatment with pulsed dye laser? J. Eur. Acad. Dermatol. Venereol.11, S142–S143 (1998).
   Google Scholar
• Ho WS, Chan HH, Ying SY, Chan PC. Laser treatment of congenital facial port-wine stains: long-term efficacy and complication in Chinese patients. Lasers Surg. Med.30(1), 44–47 (2002).
   PubMed Web of Science ®Google Scholar
• Michel S, Landthaler M, Hohenleutner U. Recurrence of port-wine stains after treatment with the flashlamp-pumped pulsed dye laser. Br. J. Dermatol.143(6), 1230–1234 (2000).
   PubMedGoogle Scholar
• Hohenleutner U, Hilbert M, Wlotzke U, Landthaler M. Epidermal damage and limited coagulation depth with the flashlamp-pumped pulsed dye laser: a histochemical study. J. Invest. Dermatol.104(5), 798–802 (1995).
   PubMed Web of Science ®Google Scholar
• Kono T, Sakurai H, Takeuchi M et al. Treatment of resistant port-wine stains with a variable-pulse pulsed dye laser. Dermatol. Surg.33(8), 951–956 (2007).
   PubMedGoogle Scholar
• Kelly KM, Choi B, McFarlane S et al. Description and analysis of treatments for port-wine stain birthmarks. Arch. Facial Plast. Surg.7(5), 287–294 (2005).
   PubMed Web of Science ®Google Scholar
• van Gemert MJ, Nelson JS, Milner TE et al. Non-invasive determination of port wine stain anatomy and physiology for optimal laser treatment strategies. Phys. Med. Biol.42(5), 937–950 (1997).
   PubMedGoogle Scholar
• Choi B, Ramirez-San-Juan JC, Lotfi J, Stuart Nelson J. Linear response range characterization and in vivo application of laser speckle imaging of blood flow dynamics. J. Biomed. Opt.11(4), 041129 (2006).
   Google Scholar
• Kelly KM, Kimel S, Smith T et al. Combined photodynamic and photothermal induced injury enhances damage to in vivo model blood vessels. Lasers Surg. Med.34(5), 407–413 (2004).
   PubMed Web of Science ®Google Scholar
• Evans AV, Robson A, Barlow RJ, Kurwa HA. Treatment of port wine stains with photodynamic therapy, using pulsed dye laser as a light source, compared with pulsed dye laser alone: a pilot study. Lasers Surg. Med.36(4), 266–269 (2005).
   PubMedGoogle Scholar
• van Emelen C, Goethals M, Dralands L, Casteels I. Treatment of glaucoma in children with Sturge–Weber syndrome. J. Pediatr. Ophthalmol. Strabismus37(1), 29–34 (2000).
   PubMed Web of Science ®Google Scholar
• Oziebo-Kupczyk M, Urban B, Mrugacz M, Bakunowicz-Lazarczyk A. [The evaluation of the efficacy of treatment in glaucoma associated with Sturge–Weber syndrome]. Klin. Oczna109(1–3), 46–48 (2007).
   PubMedGoogle Scholar
• Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J. Am. Acad. Dermatol.16(4), 899–906 (1987).
   PubMed Web of Science ®Google Scholar
• Comi AM. Topical review: pathophysiology of Sturge–Weber syndrome. J. Child Neurol.18, 509–516 (2003).
   PubMed Web of Science ®Google Scholar
• Maiuri F, Gangemi M, Iaconetta G, Maiuri L. Sturge–Weber disease without facial nevus. J. Neurosurg. Sci.33(2), 215–218 (1989).
   PubMedGoogle Scholar
• Thomas-Sohl KA, Vaslow DF, Maria BL. Sturge–Weber syndrome: a review. Pediatr. Neurol.30(5), 303–310 (2004).
   PubMed Web of Science ®Google Scholar
• Comi AM, Weisz CJC, Highet BH. Sturge–Weber syndrome: altered blood vessel fibronectin expression and morphology. J. Child Neurol.20, 572–577 (2005).
   PubMedGoogle Scholar
• Pedailles S, Martin N, Launay V et al. Sturge–Weber-Krabbe syndrome. A severe form in a monozygote female twin. Ann. Dermatol. Venereol.120(5), 379–382 (1993).
   PubMedGoogle Scholar
• Huq AH, Chugani DC, Hukku B, Serajee FJ. Evidence of somatic mosaicism in Sturge–Weber syndrome. Neurology59(5), 780–782 (2002).
   PubMedGoogle Scholar
• Risau W, Lemmon V. Changes in the vascular extracellular matrix during embryonic vasculogenesis and angiogenesis. Dev. Biol.125(2), 441–450 (1988).
   PubMed Web of Science ®Google Scholar
• Comi AM, Hunt P, Vawter MP. Increased fibronectin expression in Sturge–Weber syndrome fibroblasts and brain tissue. Ped. Res.53(5), 762–769 (2003).
   PubMedGoogle Scholar
• Cunha e Sá M, Barroso CP, Caldas MC, Edvinsson L, Gulbenkian S. Innervation pattern of malformative cortical vessels in Sturge–Weber disease: an histochemical, immunohistochemical, and ultrastructural study. Neurosurgery41(4), 872–877 (1997).
   PubMedGoogle Scholar
• Gavazzi I, Boyle KS, Cowen T. Extracellular matrix molecules influence innervation density in rat cerebral blood vessels. Brain Res.734(1–2), 167–174 (1996).
   PubMedGoogle Scholar
• Comati A, Beck H, Halliday W, Snipes GJ, Plate KH, Acker T. Upregulation of hypoxia-inducible factor (HIF)-1α and HIF-2α in leptomeningeal vascular malformations of Sturge–Weber syndrome. J. Neuropathol. Exp. Neuro.66(1), 86–97 (2007).
   PubMed Web of Science ®Google Scholar
• Ferrara N, Carver-Moore K, Chen H et al. Heterozygous embryonic lethality induced by targeted inactivation of the VEGF gene. Nature380(6573), 439–442 (1996).
   PubMed Web of Science ®Google Scholar
• Carmeliet P, Ferreira V, Breier G et al. Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature380, 435–439 (1996).
   PubMed Web of Science ®Google Scholar
• Shalaby F, Rossant J, Yamaguchi TP et al. Failure of blood-island formation and vasculogenesis in Flk-1-deficient mice. Nature376, 62–66 (1995).
   PubMed Web of Science ®Google Scholar
• Ryan HE, Lo J, Johnson RS. HIF-1α is required for solid tumor formation and embryonic vascularization. EMBO J.17(11), 3005–3015 (1998).
   PubMed Web of Science ®Google Scholar
• Maltepe E, Schmidt JV, Baunoch D, Bradfield CA, Simon MC. Abnormal angiogenesis and responses to glucose and oxygen deprivation in mice lacking the protein ARNT. Nature386, 403–407 (1997).
   PubMed Web of Science ®Google Scholar