Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Children with Sturge-Weber syndrome often develop progressive neurologic problems. Data on the pathophysiology of Sturge-Weber syndrome are briefly reviewed. The embryologic, genetic, and pathologic considerations are discussed, as are theories regarding the mechanisms of the degenerative brain changes. Sturge-Weber syndrome likely results from an early embryologic malformation of vascular development affecting the development of the nearby skin, eye, and brain structures. Studies suggest that complex molecular interactions contribute to the abnormal development and function of blood vessels in Sturge-Weber syndrome. Neurologic deterioration in Sturge-Weber syndrome is likely secondary to impaired blood flow to the brain and is worsened by the presence of seizures. Insights from related areas are discussed, and future research studies are suggested. (J Child Neurol 2003;18:509—516).
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References
1.
Bodensteiner JB, Roach ES: Sturge-Weber syndrome: Introduction and overview, in Bodensteiner JB, Roach ES (eds): Sturge-Weber Syndrome. Mt. Freedom, NJ, The Sturge-Weber Foundation, 1999, 1—10.
2.
Kramer U., Kahana E., Shorer Z., Ben Zeev B.: Outcome of infants with unilateral Sturge-Weber syndrome and early onset seizures . Dev Med Child Neurol2000;42:756—759.
3.
Klapper J.: Headache in Sturge-Weber syndrome. Headache1994;34:521—522.
4.
Garcia JC, Roach ES, McLean WT: Recurrent thrombotic deterioration in the Sturge-Weber syndrome. ChildsBrain1981;8: 427—433.
5.
Chapieski L. , Friedman A., Lachar D.: Psychological functioning in children and adolescents with Sturge-Weber syndrome. J Child Neurol2000;15:660—665.
6.
Sujansky E., Conradi S.: Outcome of Sturge-Weber syndrome in 52 adults. Am J Med Genet1995;57:35—45.
7.
Maria BL, Neufeld JA, Rosainz LC, et al: Central nervous system structure and function in Sturge-Weber syndrome: Evidence of neurologic and radiologic progression. J Child Neurol1998;13:606—618.
8.
Kossoff EH, Buck C., Freeman JM: Outcomes of 32 hemispherectomies for Sturge-Weber syndrome worldwide. Neurology2002;59:1735—1738.
9.
Taly AB, Nagaraja D., Das S., et al: Sturge-Weber-Dimitri disease without facial nevus. Neurology1987;37:1063—1064.
10.
Maiuri F., Gangemi M., Iaconetta G., Maiuri L.: Sturge-Weber disease without facial nevus. J Neurosurg Sci1989;33:215—218.
11.
Plate KH: Mechanisms of angiogenesis in the brain. J Neuropathol Exp Neurol1999;58:313—320.
12.
Happle R.: Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol1987;16:899—906.
13.
Sabin FR: Origin and development of the primitive vessels of the chick and pig. CarnegieContrib Embryol1917;17:80—93.
14.
Comi AM, Fischer R., Kossoff EH: Encephalofacial angiomatosis sparing the occipital lobe and without facial nevus: On the spectrum of Sturge-Weber syndrome variants?J Child Neurol2003;18:35—38.
15.
McEntee M., Summers BA, de Lahunta A., Cummings J.: Meningocerebral hemangiomatosis resembling Sturge-Weber disease in a horse . Acta Neuropathol (Berl)1987; 74:405-410.
16.
Gutierrez AC , Salamanca F., Lisker R., Segovia A.: Supernumerary bisatellited chromosome in a family ascertained through a patient with Sturge-Weber syndrome. Ann Genet1975;18:45—49.
17.
Vassilopoulos D.: Chromosome abnormalities in neurological diseases. Eur Neurol1976;14(5):328—339.
18.
Pedailles S. , Martin N., Launay V., et al: Sturge-Weber-Krabbe syndrome. A severe form in a monozygote female twin. Ann Dermatol Venereol1993;120:379—382.
19.
Comi AM, Hunt P., Vawter MP, et al: Increased fibronectin expression in Sturge-Weber syndrome fibroblasts and brain tissue. Pediatr Res2003; 53: 762—769.
20.
Huq AH, Chugani DC, Hukku B., Serajee FJ: Evidence of somatic mosaicism in Sturge-Weber syndrome. Neurology2002;59:780—782.
21.
Jacobs AH, Walton RG: The incidence of birthmarks in the neonate. Pediatrics1976;58:218—222.
22.
Tallman B., Tan OT, Morelli JG, et al: Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics1991;87:323—327.
23.
Breugem CC, Der Horst CM, Hennekam RC: Progress toward understanding vascular malformations. Plast Reconstr Surg2001;107:1509—1523.
24.
Breugem CC, Alders M., Salieb-Beugelaar GB, et al: A locus for hereditary capillary malformations mapped on chromosome 5q. Hum Genet2002;110:343—347.
25.
Eerola I., Boon LM, Watanabe S., et al: Locus for susceptibility for familial capillary malformation (`port-wine stain') maps to 5q. Eur J Hum Genet2002;10:375—380.
26.
Norman MG, Schoene WC: The ultrastructure of Sturge-Weber disease. Acta Neuropathol (Berl)1977;37:199—205.
27.
Di Trapani G., Di Rocco C., Abbamondi AL, et al: Light microscopy and ultrastructural studies of Sturge-Weber disease. ChildsBrain1982;9:23—36.
28.
Simonati A., Colamaria V., Bricolo A., et al: Microgyria associated with Sturge-Weber angiomatosis. Childs Nerv Syst1994;10: 392—395.
29.
Prayson RA, Grewal ID, McMahon JT, et al: Leukocyte adhesion molecules and x-ray energy dispersive spectroscopy in Sturge-Weber disease. Pediatr Neurol1996 ; 15: 332—336.
30.
Sa M., Barroso CP, Caldas MC, et al: Innervation pattern of malformative cortical vessels in Sturge-Weber disease: An histochemical, immunohistochemical, and ultrastructural study . Neurosurgery1997;41:872—876.
31.
Smoller BR, Rosen S.: Port-wine stains. A disease of altered neural modulation of blood vessels?Arch Dermatol1986;122:177—179.
32.
Rhoten RL, Comair YG, Shedid D., et al: Specific repression of the preproendothelin-1 gene in intracranial arteriovenous malformations. J Neurosurg1997 ;86:101—108.
33.
Katugampola GA , Lanigan SW, Rees AM: Normal distribution of endothelin in port wine stain vasculature. Br J Dermatol1997 ;137:323—324.
34.
Goto K.: Basic and therapeutic relevance of endothelin-mediated regulation. Biol Pharm Bull2001;24:1219—1230.
35.
Grant K., Loizidou M., Taylor I.: Endothelin-1: A multifunctional molecule in cancer. Br J Cancer2003;88:163—166.
36.
Mitsuhashi Y., Odermatt BF, Schneider BV, Schnyder UW: Immunohistological evaluation of endothelial markers and basement membrane components in port-wine stains. Dermatologica1988;176:243—250.
37.
Risau W., Lemmon V.: Changes in the vascular extracellular matrix during embryonic vasculogenesis and angiogenesis. Dev Biol1988;125:441—450.
38.
Hoffman KB, Pinkstaff JK, Gall CM, Lynch G.: Seizure induced synthesis of fibronectin is rapid and age dependent: Implications for long-term potentiation and sprouting. Brain Res1998;812:209—215.
39.
Hahn AW, Resink TJ, Mackie E., et al: Effects of peptide vasoconstrictors on vessel structure. Am J Med1993;94(Suppl): 13S—19S.
40.
Gavazzi I., Boyle KS, Cowen T.: Extracellular matrix molecules influence innervation density in rat cerebral blood vessels. Brain Res1996;734:167—174.
41.
Lee JS, Asano E., Muzik O., et al: Sturge-Weber syndrome: Correlation between clinical course and FDG PET findings. Neurology2001;57:189—195.
42.
Reid DE, Maria BL, Drane WE, et al: Central nervous system perfusion and metabolism abnormalities in Sturge-Weber syndrome. J Child Neurol1997 ;12:218—222.
43.
Lin DL, Barker PB, Kraut MA, Comi AM: Early characteristics of Sturge-Weber syndrome on T2-weighted MR perfusion and proton MR spectroscopic imaging. Am J Neuroradiology2003; in press.
44.
Okudaira Y. , Arai H., Sato K.: Hemodynamic compromise as a factor in clinical progression of Sturge-Weber syndrome. Childs Nerv Syst1997;13:214—219.
45.
Jin KL, Mao XO, Nagayama T., et al:Induction of vascular endothelial growth factor and hypoxia-inducible factor-1 alpha by global ischemia in rat brain. Neuroscience2000;99:577—585.
46.
Sujansky E. , Conradi S.: Sturge-Weber syndrome: Age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol1995;10:49—58.
Riela AR, Stump DA, Roach ES, et al: Regional cerebral blood flow characteristics of the Sturge-Weber syndrome. Pediatr Neurol1985;1:85—90.
49.
Pinton F., Chiron C., Enjolras O., et al: Early single photon emission computed tomography in Sturge-Weber syndrome. J Neurol Neurosurg Psychiatry1997 ;63:616—621.
50.
Chugani HT, Mazziotta JC, Phelps ME: Sturge-Weber syndrome: A study of cerebral glucose utilization with positron emission tomography. J Pediatr1989;114:244—253.
51.
Irikura K., Morii S., Miyasaka Y., et al: Impaired autoregulation in an experimental model of chronic cerebral hypoperfusion in rats. Stroke1996 ;27:1399—1404.
52.
Coley SC, Britton J., Clarke A.: Status epilepticus and venous infarction in Sturge-Weber syndrome. Childs Nerv Syst1998; 14:693—696.
53.
Hoffman HJ, Hendrick EB, Dennis M., Armstrong D.: Hemispherectomy for Sturge-Weber syndrome. ChildsBrain1979;5:233—248.
54.
Aylett SE, Neville BG, Cross JH, et al: Sturge-Weber syndrome: Cerebral haemodynamics during seizure activity. Dev Med Child Neurol1999;41:480—485.
