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REVIEW article

Front. Neurol.
Sec. Endovascular and Interventional Neurology
Volume 15 - 2024 | doi: 10.3389/fneur.2024.1493873
This article is part of the Research Topic Advance in Vascular Anomalies of Head and Neck Region: From Bench to Bedside View all 10 articles

Sturge-Weber syndrome: Updates in Translational Neurology

Provisionally accepted
Chase R. Solomon Chase R. Solomon 1Anne M. Comi Anne M. Comi 1,2*
  • 1 Department of Neurology, Kennedy Krieger Institute, Baltimore, United States
  • 2 Department of Pediatrics, Department of Neurology and Neurosurgery, The Johns Hopkins Hospital, Johns Hopkins Medicine, Baltimore, Maryland, United States

The final, formatted version of the article will be published soon.

    Sturge-Weber syndrome (SWS) is a rare congenital neurovascular disorder that initially presents with a facial port-wine birthmark (PWB) and most commonly associated with a R183Q somatic mosaic mutation in the gene GNAQ. This mutation is enriched in endothelial cells. Contrast-enhanced magnetic resonance imaging (MRI) diagnoses brain abnormalities including leptomeningeal vascular malformation, an enlarged choroid plexus, and abnormal cortical and subcortical blood vessels. Mouse SWS models identify dysregulated proteins important for abnormal vasculogenesis and blood brain barrier permeability. Recent clinical research has focused on early diagnosis, biomarker development, presymptomatic treatment, and development of novel treatment strategies. Prospective pilot clinical drug trials with cannabidiol (Epidiolex) or with sirolimus, an mTOR inhibitor, indicate possible reductions in seizure frequency and improved cognitive outcome. This review connects the most recent molecular research in SWS cell culture and animal models to developing new treatment methods and identifies future areas of research.

    Keywords: Sturge-Weber Syndrome, models, blood brain barrier, Treatment, seizure, diagnosis

    Received: 09 Sep 2024; Accepted: 06 Nov 2024.

    Copyright: © 2024 Solomon and Comi. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Anne M. Comi, Department of Neurology, Kennedy Krieger Institute, Baltimore, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.