Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-76fb5796d-skm99 Total loading time: 0 Render date: 2024-04-29T23:12:09.365Z Has data issue: false hasContentIssue false

Chapter 27 - Sturge–Weber Syndrome

from Section 3 - Hereditary and Genetic Conditions and Malformations

Published online by Cambridge University Press:  15 June 2018

By
Anne Comi  and
E. Steve Roach
Edited by
Louis Caplan  and
José Biller
Louis Caplan
Affiliation:
Beth Israel-Deaconess Medical Center, Boston
José Biller
Affiliation:
Loyola University Stritch School of Medicine, Chicago
Get access

Summary

A summary is not available for this content so a preview has been provided. Please use the Get access link above for information on how to access this content.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Uncommon Causes of Stroke , pp. 200 - 207
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Aicardi, J. & Arzimanoglou, A., 1991. Sturge–Weber syndrome. Int Pediatr 6, 129–34.Google Scholar
Akpinar, E., 2004. The tram-track sign: Cortical calcifications. Radiology 231, 515–16.CrossRefGoogle ScholarPubMed
Alexander, G. L. & Norman, R. M. 1960. Sturge–Weber Syndrome. Bristol: John Wright & Sons Ltd.Google Scholar
Anderson, F. H. & Duncan, G. W., 1974. Sturge–Weber disease with subarachnoid hemorrhage. Stroke 5, 509–11.Google Scholar
Bay, M. J., Kossoff, E. H., Lehmann, C. U., Zabel, T. A., & Comi, A. M., 2011. Survey of aspirin use in Sturge–Weber syndrome. J Child Neurol 26, 692–702.CrossRefGoogle ScholarPubMed
Bebin, E. M. & Gomez, M. R., 1988. Prognosis in Sturge–Weber disease: Comparison of unihemispheric and bihemispheric involvement. J Child Neurol 3, 181–4.CrossRefGoogle ScholarPubMed
Benedikt, R. A., Brown, D. C., Walker, R., et al. 1993. Sturge–Weber syndrome: Cranial MR imaging with Gd-DTPA. Am J Neuroradiol 14, 409–15.Google ScholarPubMed
Bentson, J. R., Wilson, G. H., & Newton, T. H., 1971. Cerebral venous drainage pattern of the Sturge–Weber syndrome. Radiology 101, 111–18.Google Scholar
Boltshauser, E., Wilson, J., & Hoare, R. D., 1976. Sturge–Weber syndrome with bilateral intracranial calcification. J Neurol Neurosurg Psychiatry 39, 429–35.Google Scholar
Bourgeois, M., Crimmins, D. W., de Oliveira, R. S., et al. 2007. Surgical treatment of epilepsy in Sturge–Weber syndrome in children. J Neurosurg 106 (1 Suppl), 20–8.Google ScholarPubMed
Bye, A. M., Matheson, J. M., & Mackenzie, R. A., 1989. Epilepsy surgery in Sturge–Weber syndrome. Aust New Zealand J Ophthalmol 25, 103–5.Google Scholar
Cambon, H., Truelle, J. L., Baron, J. C., et al., 1987. Focal chronic ischemia and concomitant migraine: An atypical form of Sturge–Weber angiomatosis? Rev Neurol (Paris) 143, 588–94.Google Scholar
Chamberlain, M. C., Press, G. A., & Hesselink, J. R., 1989. MR imaging and CT in three cases of Sturge–Weber syndrome: Prospective comparison. Am J Roentgenol 10, 491–6.Google Scholar
Chen, T. C. & Young, L. H., 2005. Sturge–Weber syndrome (choroidal hemangioma and glaucoma). J Pediatr Ophthalmol Strabismus 42, 320.Google Scholar
Cheng, K. P. 1999. Ophthalmologic manifestations of Sturge–Weber syndrome. In Bodensteiner, J. B. & Roach, E. S., eds. Sturge–Weber Syndrome. Mt Freedom, NJ: Sturge-Weber Foundation, pp. 17–26.Google Scholar
Chevrie, J. J., Specola, N., & Aicardi, J., 1988. Secondary bilateral synchrony in unilateral pial angiomatosis: Successful surgical management. J Neurol Neurosurg Psychiatry 15, 95–8.Google Scholar
Chiron, C., Raynaud, C., Tzourio, N., et al., 1989. Regional cerebral blood flow by SPECT imaging in Sturge–Weber disease: An aid for diagnosis. J Neurol Neurosurg Psychiatry 52, 1402–9.Google Scholar
Chugani, H. T., Mazziotta, J. C., & Phelps, M. E., 1989. Sturge–Weber syndrome: A study of cerebral glucose utilization with positron emission tomography. J Pediatr 114, 244–53.Google Scholar
Cibis, G. W., Tripathi, R. C., & Tripathi, B. J., 1984. Glaucoma in Sturge–Weber syndrome. Ophthalmology 91, 1061–71.Google Scholar
Comati, A., Beck, H., Halliday, W., et al., 2007. Upregulation of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha in leptomeningeal vascular malformations of Sturge–Weber syndrome. J Neuropathol Exp Neurol 66, 86–97.Google Scholar
Comi, A., 2015. Current therapeutic options in Sturge–Weber syndrome. Semin Pediatr Neurol 22, 295–301.Google Scholar
Couto, J. A., Huang, L., Vivero, M. P., et al., 2016. Endothelial cells from capillary malformations are enriched for somatic GNAQ mutations. Plast Reconstr Surg 137, 77e–82e.Google Scholar
Crosley, C. J. & Binet, E. F., 1978. Sturge–Weber syndrome: Presentation as a focal seizure disorder without nevus flammeus. Clin Pediatr 17, 606–9.CrossRefGoogle ScholarPubMed
Cushing, H., 1906. Cases of spontaneous intracranial hemorrhage associated with trigeminal nevi. JAMA 47, 178–83.Google Scholar
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.Google Scholar
Duncan, D. B., Herholz, K., Pietrzyk, U., & Heiss, W. D., 1995. Regional cerebral blood flow and metabolism in Sturge–Weber disease. Clin Nucl Med 20, 522–523.CrossRefGoogle ScholarPubMed
Dutkiewicz, A. S., Ezzedine, K., Mazereeuw-Hautier, J., et al., 2015. A prospective study of risk for Sturge–Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol 72, 473–80.Google Scholar
Enjolras, O., Riche, M. C., & Merland, J. J., 1985. Facial port-wine stains and Sturge–Weber syndrome. Pediatrics 76, 48–51.Google Scholar
Farrell, M. A., DeRosa, M. J., Curran, J. G., et al., 1992. Neuropathologic findings in cortical resections (including hemispherectomies) performed for the treatment of intractable childhood epilepsy. Acta Neuropathol 83, 246–59.CrossRefGoogle ScholarPubMed
Garcia, J. C., Roach, E. S., & McLean, W. T., 1981. Recurrent thrombotic deterioration in the Sturge–Weber syndrome. Childs Brain 8, 427–33.Google Scholar
Griffiths, P. D., Boodram, M. B., Blaser, S., et al., 1997. 99mTechnetium HMPAO imaging in children with the Sturge–Weber syndrome: A study of nine cases with CT and MRI correlation. Neuroradiology 39, 219–24.Google Scholar
Hussain, R. N., Jmor, F., Damato, B., & Heimann, H., 2016. Verteporfin photodynamic therapy for the treatment of choroidal haemangioma associated with Sturge–Weber syndrome. Photodiagnosis Photodyn Ther 15, 143–6.Google Scholar
Jacoby, C. G., Yuh, W. T., Afifi, A. K., et al., 1987. Accelerated myelination in early Sturge–Weber syndrome demonstrated by MR imaging. J Comput Assist Tomogr 11, 226–31.Google Scholar
Jansen, F. E., van der Worp, H. B., van Huffelen, A. C., & van Nieuwenhuizen, O., 2004. Sturge–Weber syndrome and paroxysmal hemiparesis: Epilepsy or ischaemia? Dev Med Child Neurol 46, 783–6.Google Scholar
Juhasz, C. & Chugani, H. T., 2007. An almost missed leptomeningeal angioma in Sturge–Weber syndrome. Neurology 68, 243.Google Scholar
Kavanaugh, B., Sreenivasan, A., Bachur, C., et al., 2015. Intellectual and adaptive functioning in Sturge–Weber Syndrome. Child Neuropsychol, May 8, 1–14.Google Scholar
Kossoff, E. H., Buck, C., & Freeman, J. M., 2002. Outcomes of 32 hemispherectomies for Sturge–Weber syndrome worldwide. Neurology 59, 1735–8.Google Scholar
Kossoff, E. H., Hatfield, L. A., Ball, K. L., & Comi, A. M., 2005. Comorbidity of epilepsy and headache in patients with Sturge–Weber syndrome. J Child Neurol 20, 678–82.Google ScholarPubMed
Kossoff, E. H., Ferenc, L., & Comi, A. M., 2009. An infantile-onset, severe, yet sporadic seizure pattern is common in Sturge–Weber syndrome. Epilepsia 50, 2154–7.Google Scholar
Lance, E. I., Sreenivasan, A. K., Zabel, T. A., Kossoff, E. H., & Comi, A. M., 2013. Aspirin use in Sturge–Weber syndrome: Side effects and clinical outcomes. J Child Neurol 28, 213–18.Google Scholar
Lin, D. D., Barker, P. B., Hatfield, L. A., & Comi, A. M., 2006. Dynamic MR perfusion and proton MR spectroscopic imaging in Sturge–Weber syndrome: Correlation with neurological symptoms. J Magn Reson Imaging 24, 274–81.Google Scholar
Maria, B. L., Neufeld, J. A., Rosainz, L. C., et al., 1998a. High prevalence of bihemispheric structural and functional defects in Sturge–Weber syndrome. J Child Neurol 13, 595–605.Google Scholar
Maria, B. L., Neufeld, J. A., Rosainz, L. C., et al., 1998b. Central nervous system structure and function in Sturge–Weber syndrome: Evidence of neurologic and radiographic progression. J Child Neurol 13, 606–18.Google Scholar
Maria, B. L., Hoang, K. N., Robertson, R. L., et al., 1999. Imaging brain structure and function in Sturge–Weber syndrome. In Bodensteiner, J. B. & Roach, E. S., eds. Sturge–Weber Syndrome. Mt Freedom, NJ: Sturge–Weber Foundation, pp. 43–69.Google Scholar
Marques, L., Nunez-Cordoba, J. M., Aguado, L., et al., 2015. Topical rapamycin combined with pulsed dye laser in the treatment of capillary vascular malformations in Sturge-Weber syndrome: Phase II, randomized, double-blind, intraindividual placebo-controlled clinical trial. J Am Acad Dermatol 72, 151–8.Google Scholar
McCaughan, R. A., Ouvrier, R. A., De Silva, K., & McLaughlin, A., 1975. The value of the brain scan and cerebral arteriogram in the Sturge–Weber syndrome. Proc Aust Assoc Neurol 12, 185–90.Google Scholar
Miyama, S. & Goto, T., 2004. Leptomeningeal angiomatosis with infantile spasms. Pediatr Neurol 31, pp. 353–6.CrossRefGoogle ScholarPubMed
Muller, R. A., Chugani, H. T., Muzik, O., Rothermel, R. D., & Chakraborty, P. K., 1997. Language and motor functions activate calcified hemisphere in patients with Sturge–Weber syndrome: A positron emission tomography study. J Child Neurol 12, 431–7.CrossRefGoogle ScholarPubMed
Namer, I. J., Battaglia, F., Hirsch, E., Constantinesco, A., & Marescaux, C., 2005. Subtraction ictal SPECT co-registered to MRI (SISCOM) in Sturge–Weber syndrome. Clin Nucl Med 30, 39–40.Google Scholar
Nguyen, C. M., Yohn, J. J., Huff, 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. Br J Dermatol 138, 821–5.Google Scholar
Norman, M. G. & Schoene, W. C., 1977. The ultrastructure of Sturge–Weber disease. Acta Neuropathol 37, 199–205.Google Scholar
Oakes, W. J., 1992. The natural history of patients with the Sturge–Weber syndrome. Pediatr Neurosurg 18, 287–90.Google Scholar
Ogunmekan, A. O., Hwang, P. A., & Hoffman, H. J., 1989. Sturge–Weber–Dimitri disease: Role of hemispherectomy in prognosis. Can J Neurol Sc 16, 78–80.Google Scholar
Pinto, A. L., Chen, L., Friedman, R., et al., 2016. Sturge–Weber syndrome: Brain magnetic resonance imaging and neuropathology findings. Pediatr Neurol 58, 25–30.Google Scholar
Poser, C. M. & Taveras, J. M., 1957. Cerebral angiography in encephalo-trigeminal angiomatosis. Radiology 68, 327–36.Google Scholar
Probst, F. P., 1980. Vascular morphology and angiographic flow patterns in Sturge–Weber angiomatosis. Neuroradiology 20, 73–8.Google Scholar
Rappaport, Z. H., 1988. Corpus callosum section in the treatment of intractable seizures in the Sturge–Weber syndrome. Childs Nerv Syst 4, 231–2.Google Scholar
Roach, E. S. & Bodensteiner, J. B. 1999. Neurologic manifestations of Sturge–Weber syndrome. In Bodensteiner, J. B. & Roach, E. S., eds. Sturge–Weber Syndrome. Mt Freedom, NJ: Sturge-Weber Foundation, pp. 27–38.Google Scholar
Roach, E. S. & Riela, A. R. 1995. Pediatric Cerebrovascular Disorders, 2nd edn. New York, NY: Futura Publishing Company.Google Scholar
Roach, E. S., Riela, A. R., Chugani, H. T., et al., 1994. Sturge–Weber syndrome: Recommendations for surgery. J Child Neurol 9, 190–3.Google Scholar
Sen, Y., Dilber, E., Odemis, E., Ahmetoglu, A., & Aynaci, F. M., 2002. Sturge–Weber syndrome in a 14-year-old girl without facial naevus. Eur J Pediatr 161, 505–6.Google Scholar
Shirley, M. D., Tang, H., Gallione, C. J., et al., 2013. Sturge–Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368, 1971–9.CrossRefGoogle ScholarPubMed
Slasky, S. E., Shinnar, S., & Bello, J. A., 2006. Sturge–Weber syndrome: Deep venous occlusion and the radiologic spectrum. Pediatr Neurol 35, 343–7.Google Scholar
Stevenson, R. F., Thomson, H. G., & Morin, L. D., 1974. Unrecognized ocular problems associated with port-wine stain of the face in children. Can Med Assoc J 111, 953–4.Google Scholar
Sujansky, E. & Conradi, S., 1995a. Outcome of Sturge–Weber syndrome in 52 adults. Am J Med Genet 57, 35–45.Google Scholar
Sujansky, E. & Conradi, S., 1995b. Sturge–Weber syndrome: Age of onset of seizures and glaucoma and the prognosis for affected children. J Child Neurol 10, 49–58.Google Scholar
Sullivan, T. J., Clarke, M. P., & Morin, J. D., 1992. The ocular manifestations of the Sturge–Weber syndrome. J Pediatr Ophthal Strabismus 29, 349–56.Google Scholar
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, 323–7.Google Scholar
Tuxhorn, I. E. & Pannek, H. W., 2002. Epilepsy surgery in bilateral Sturge–Weber syndrome. Pediatr Neurol 26, 394–7.Google Scholar
Uram, M. & Zubillaga, C., 1982. The cutaneous manifestations of Sturge–Weber syndrome. J Clin Neuro Ophthalmol 2, 245–8.Google Scholar
Ville, D., Enjolras, O., Chiron, C., & Dulac, O., 2002. Prophylactic antiepileptic treatment in Sturge–Weber disease. Seizure 11, 145–50.Google Scholar
Wohlwill, F. J. & Yakovlev, P. I., 1957. Histopathology of meningo-facial angiomatosis (Sturge–Weber’s disease). J Neuropathol Exp Neurol 16, 341–64.Google Scholar
Yeakley, J. W., Woodside, M., & Fenstermacher, M. J., 1992. Bilateral neonatal Sturge–Weber–Dimitri disease: CT and MR findings. Am J Neuroradiol 13, 1179–82.Google Scholar
Yu, F. X., Luo, J., Mo, J. S., et al., 2014. Mutant Gq/11 promote uveal melanoma tumorigenesis by activating YAP. Cancer Cell 25, 822–30.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×