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-848d4c4894-ttngx Total loading time: 0 Render date: 2024-05-01T12:40:13.839Z Has data issue: false hasContentIssue false

Chapter 46 - Sturge-Weber Syndrome

from Genetic Syndromes and Phakomatoses

Published online by Cambridge University Press:  07 August 2021

Mirna Lechpammer ,
Marc Del Bigio  and
Rebecca Folkerth
By
Mirna Lechpammer
Mirna Lechpammer
Affiliation:
New York University School of Medicine
Marc Del Bigio
Affiliation:
University of Manitoba, Canada
Rebecca Folkerth
Affiliation:
New York University School of Medicine
Get access

Summary

Sturge-Weber syndrome (SWS), also called encephalotrigeminal angiomatosis and Sturge-Weber-Dimitry syndrome, is a rare noninherited congenital neurocutaneous disorder characterized by the association of a facial birthmark called a port-wine stain; abnormal capillary venous vessels in the leptomeninges of the brain and choroid; glaucoma; and seizures, stroke, and intellectual disability [1, 2].

Type
Chapter
Information
Perinatal Neuropathology , pp. 278 - 280
Publisher: Cambridge University Press
Print publication year: 2021

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

Patterson, M, Levy, M, Dashe, J. Sturge-Weber syndrome [Internet]. Uptodate.com; 2019 [cited 20 Nov 2018]. Available from: www.uptodate.com/contents/sturge-weber-syndrome.Google Scholar
Comi, A. Current therapeutic options in Sturge-Weber syndrome. Semin Pediatr Neurol. 2015;22(4):295–301.Google Scholar
Comi, A, Pevsner, G. Sturge-Weber syndrome [Internet]. Orphanet encyclopedia; 2014 Mar. Available from: www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=591&Disease_Disease_Search_diseaseGroup=sturge-weber&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Sturge-Weber-syndrome&title=Sturge-Weber%20syndrome&search=Disease_Search_Simple.Google Scholar
Islam, MP, Roach, ES. Handbook of clinical neurology: neurocutaneous syndromes. Elsevier; 2015;132:2–330.Google Scholar
Shirley, MD, Tang, H, Gallione, CJ, Baugher, JD, Frelin, LP, Cohen, BA et al. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971–79.Google Scholar
Comi, A. Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome. Neurologist; 2011;17(4):179–84.Google Scholar
Pinto, A, Chen, L, Friedman, R, Grant, P, Poduri, A, Takeoka, M et al. Sturge-Weber syndrome: brain magnetic resonance imaging and neuropathology findings. Pediatr Neurol. 2016;58:25–30.Google Scholar
Zallmann, M, Leventer, R, Mackay, M, Ditchfield, M, Bekhor, P, Su, J. Screening for Sturge-Weber syndrome: a state-of-the-art review. Pediatr Dermatol. 2017;35(1):30–42.Google Scholar
Blumcke, I, Thom, M, Aronica, E, Armstrong, DD, Vinters, HV, Palmini, A, et al. The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia. 2011;52:158–74.Google Scholar
Comi, A, Sahin, M, Hammill, A, Kaplan, EH, Juhasz, C, North, P., et al. Leveraging a Sturge-Weber gene discovery: An agenda for future research. Pediatr Neurol. 2016;58:12–24.Google Scholar
De la Torre, A, Luat, A, Juhász, C, Ho, M, Argersinger, D, Cavuoto, K et al. A multidisciplinary consensus for clinical care and research needs for Sturge-Weber syndrome. Pediatr Neurol. 2018;84:11–20.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
×