Skip to main content Accessibility help
×
Home
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 4
  • Print publication year: 2004
  • Online publication date: July 2009

23 - Sturge–Weber syndrome

Summary

Introduction

Sturge–Weber syndrome (encephalofacial angiomatosis) is characterized by a venous malformation involving the skin, brain, and sometimes the eye. Most patients with brain involvement develop epileptic seizures, and many of these individuals are also cognitively impaired. Some patients develop focal neurological deficits such as hemiparesis, hemiatrophy, and visual field defects. Glaucoma is common. The syndrome is sporadic and occurs in all ethnic groups (Bodensteiner & Roach, 1999).

While the obvious cutaneous manifestations of Sturge–Weber syndrome (SWS) have no doubt been recognized for centuries, its clinical delineation did not begin until the nineteenth century (Bodensteiner & Roach, 1999). Schirmer first noted the facial nevus and other parts of the syndrome in 1860. Sturge (1879) linked the facial nevus to neurological impairment in a girl with a port-wine stained lesion of the face and trunk along with contralateral seizures and weakness, and Kalischer confirmed the intracranial pathology of SWS in 1897. Parkes Weber described some of the radiological features of SWS (Weber, 1922), but it was Dimitri a year later who described the classic ‘tram track’ calcification of SWS. The significance of this unusual radiographic appearance was not uncovered for almost 10 years, when Krabbe determined that this finding was from calcium deposition in the cortex beneath the leptomeningeal angiomatosis (Krabbe, 1934).

Clinical manifestations

Cutaneous features

The cutaneous lesion of SWS is a port-wine stain (Fig. 23.1) of the forehead or upper eyelid which is evident from birth.

REFERENCES
Ali, A. A., Fahmy, I. A. & Spaeth, G. L. (1990). Trabeculectomy for glaucoma associated with Sturge–Weber syndrome. Ophthalmic Surgery, 21: 352–355
Anderson, F. H. & Duncan, G. W. (1974). Sturge–Weber disease with subarachnoid hemorrhage. Stroke, 5: 509–511
Arzimanoglou, A. A., Andermann, F., Aicardi, J. et al. (2000). Sturge–Weber syndrome: indications and results of surgery in 20 patients. Neurology, 55: 1472–1479
Bebin, E. M. & Gomez, M. R. (1988). Prognosis in Sturge–Weber disease: comparison of unihemispheric and bihemispheric involvement. Journal of Child Neurology, 3: 181–184
Bodensteiner, J. B. & Roach, E. S. (1999). Sturge–Weber syndrome: introduction and overview. In Sturge–Weber Syndrome, ed. J. B. Bodensteiner & E. S. Roach, pp. 1–10. Mt. Freedom, NJ: Sturge–Weber Foundation
Bye, A. M., Andermann, F., Robitaille, Y., Oliver, M., Bohane, T. & Andermann, E. (1993). Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency. Annals of Neurology, 34: 399–403
Cambon, H., Truelle, J. L., Baron, J. C., Chiras, J., Tran Dinh, S. & Chatel, M. (1987). Focal chronic ischemia and concomitant migraine: an atypical form of Sturge–Weber angiomatosis? Revue Neurologie, 143: 588–594
Cheng, K. P., (1999). Ophthalmologic manifestations of Sturge–Weber syndrome. In Sturge-Weber Syndrome, ed. J. B. Bodensteiner & E. S. Roach, pp. 17–26. Mount Freedom: The Sturge-Weber Foundation
Chugani, H. T., Mazziotta, J. & Phelps, M. (1989). Sturge–Weber syndrome: a study of cerebral glucose utilization with positron emission tomography. Journal of Pediatrics, 114: 244–253
Cohen, M. M. (2000). Klippel–Trenaunay syndrome. American Journal of Medical Genetics, 93: 171–175
Crosley, C. J. & Binet, E. F. (1978). Sturge–Weber syndrome. Presentation as a focal seizure disorder without nevus flammeus. Clinical Pediatrics, 17: 606–609
Cure, J. K., Holden, K. R. & Tassel, P. (1995). Progressive venous occlusion in a neonate with Sturge–Weber syndrome: demonstration with MR venous angiography. American Journal of Neuroradiology, 16: 1539–1542
Di Trapani, G., Di Rocco, C., Abbamondi, A. L., Caldarelli, M. & Pocchiari, M. (1982). Light microscopy and ultrastructural studies of Sturge–Weber disease. Brain, 9: 23–36
Elster, A. D. & Chen, M. Y. (1990). MR imaging of Sturge–Weber syndrome: role of gadopentetate dimeglumine and gradient-echo techniques. American Journal of Neuroradiology, 11: 685–689
Enjolras, O., Riche, M. C. & Merland, J. J. (1985). Facial port-wine stains and Sturge–Weber syndrome. Pediatrics, 76: 48–51
Fishman, M. A. & Baram, T. Z. (1986). Megalencephaly due to impaired cerebral venous return in a Sturge–Weber variant syndrome. Journal of Child Neurology, 1: 115–118
Garcia, J. C., Roach, E. S. & McLean, W. T. (1981). Recurrent thrombotic deterioration in the Sturge–Weber syndrome. Childs Brain, 8: 427–433
Iwach, A. G., Hoskins, H., Hetherington, J. & Shaffer, R. N. (1990). Analysis of surgical and medical management of glaucoma in Sturge–Weber syndrome. Ophthalmology, 97: 904–909
Krabbe, K. H. (1934). Facial and meningeal angiomatosis associated with calcification of the brain cortex. Archives of Neurology and Psychiatry, 32: 737–755
Lipski, S., Brunelle, F., Aicardi, J., Hirsch, J. F. & Lallemand, D. (1990). Gd-DOTA-enhanced MR imaging in two cases of Sturge–Weber syndrome. American Journal of Neuroradiology, 11: 690–692
Maria, B. L., Neufeld, J. A., Rosainz, L. C. (1998a). Central nervous system structure and function in Sturge–Weber syndrome: evidence of neurologic and radiologic progression. Journal of Child Neurology, 13: 606–618
Maria, B. L., Neufeld, J. A., Rosainz, L. C. et al. (1998b). High prevalence of bihemispheric structural and functional defects in Sturge–Weber syndrome. Journal of Child Neurology, 13: 595–605
Meyer, E. (1979). Neurocutaneous syndrome with excessive macrohydrocephalus (Sturge–Weber/Klippel–Trenaunay syndrome). Neuropaediatrie, 10: 67–75
Molteni, N., Bardella, M. T., Baldassarri, A. R. & Bianchi, P. A. (1988). Celiac disease associated with epilepsy and intracranial calcifications: report of two patients. American Journal of Gastroenterology, 83: 992–994
Morelli, J. G. (1999). Port-wine stains and the Sturge–Weber syndrome. In Sturge–Weber Syndrome, ed. J. B. Bodensteiner & E. S. Roach. Mount Freedom, NJ: The Sturge–Weber Foundation
Nguyen, C. M., Yohn, J. J., Huff, J. C., Weston, W. L. & Morelli, J. G. (1998). Facial port-wine stains in childhood: prediction of the rate of improvement as a function of the age of the patient, size and location of the port-wine stain and the number of treatments with the pulsed dye (585 nm) laser. British Journal of Dermatology, 138: 821–825
Oakes, W. J. (1992). The natural history of patients with the Sturge–Weber syndrome. Pediatric Neurosurgery, 18: 287–290
Orr, L. S., Osher, R. H. & Savino, P. J. (1978). The syndrome of facial nevi, anomalous venous return and hydrocephalus. Annals of Neurology, 3: 316–318
Rappaport, Z. H. (1988). Corpus callosum section in the treatment of intractable seizures in the Sturge–Weber syndrome. Child's Nervous System, 4: 231–232
Roach, E. S. & Bodensteiner, J. B. (1999). Neurologic manifestations of Sturge–Weber syndrome. In Sturge–Weber Syndrome, ed. J. B. Bodenstiener & E. S. Roach, pp. 27–38. Mt. Freedom, NJ: Sturge-Weber Foundation
Roach, E. S., Riela, A. R., Chugani, H. T., Shinnar, S., Bodensteiner, J. B. & Freeman, J. (1994). Sturge–Weber syndrome: recommendations for surgery. Journal of Child Neurology, 9: 190–192
Sturge, W. A., (1879). A case of partial epilepsy due to a lesion of one of the vaso-motor centres of the brain. Transactions Clinical Society London, 12: 162–167
Sujansky, E. & Conradi, S. (1995a). Sturge–Weber syndrome: age of onset of seizures and glaucoma and the prognosis for affected children. Journal of Child Neurology, 10: 49–58
Sujansky, E. & Conradi, S. (1995b). Outcome of Sturge–Weber syndrome in 52 adults. American Journal of Medical Genetics, 57: 35–45
Sullivan, T. J., Clarke, M. P. & Morin, J. D. (1992). The ocular manifestations of the Sturge–Weber syndrome. Journal of Pediatric Ophthalmology and Strabismus, 29: 349–356
Tallman, B., Tan, O. T., Morelli, J. G. et al. (1991). Location of port-wine stains and the likelihood of ophthalmic and/or central nervous system complications. Pediatrics, 87: 323–327
Taly, A. B., Nagaraja, D., Das, S., Shankar, D. K. & Pratibha, N. G. (1987). Sturge–Weber–Dimitri disease without facial nevus. Neurology, 37: 1063–1064
Uram, M. & Zubillaga, C. (1982). The cutaneous manifestations of Sturge–Weber syndrome. Journal of Clinical Neuro-Ophthalmology, 2: 245–248
Vogl, T. J., Stemmler, J., Bergman, C., Pfluger, T., Egger, E. & Lissner, J. (1993). MR and MR angiography of Sturge–Weber syndrome. American Journal of Neuroradiology, 14: 417–425
Weber, F. P. (1922). Right-sided hemihypotrophy resulting from right-sided congenital spastic hemiplegia, with a morbid condition of the left side of the brain revealed by radiograms. Journal of Neurology and Psychopathology, 3: 134–139
Wohlwill, F. J. & Yakovlev, P. I. (1957). Histopathology of meningo-facial angiomatosis (Sturge–Weber disease). Journal of Neuropathology and Experimental Neurology, 16: 341–364