{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T00:59:20Z","timestamp":1791593960707,"version":"4.3.4"},"reference-count":66,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,3,22]],"date-time":"2025-03-22T00:00:00Z","timestamp":1742601600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Sturge\u2013Weber Syndrome (SWS) is a rare neurocutaneous disorder caused by a somatic nonsynonymous mosaic mutation most commonly in the GNAQ gene (G protein guanine Nucleotide-binding protein Alpha subunit q). SWS is characterized by capillary-venous malformations in the brain and eyes and a characteristic facial port wine (PW) birthmark (previously called port wine stain\/PWS) in the head\/neck region. Clinical manifestations vary and include epilepsy, stroke-like episodes, migraine headaches, cognitive delays, glaucoma, ocular vascular anomalies, heterochromia of the iris, visual field defects, and endocrine disorders like growth hormone deficiency or central hypothyroidism. The pathognomonic findings seen in neuroimaging with magnetic resonance imaging (MRI) include the presence of unilateral intracranial leptomeningeal angiomatosis, typically ipsilateral to the facial birthmark. SWS does not currently have a definitive cure, and management strategies focus on symptomatic management such as anti-seizure medications, limited surgical resection of the epileptogenic tissue or hemispherectomy for cases of drug-resistant epilepsy (DRE), selective photo-thermolysis of the PWS using a pulsed dye laser, and the medical and\/or surgical management of glaucoma. In addition to these symptomatic treatments, the use of preventive, modifying, or stabilizing treatments like low-dose aspirin in reducing the frequency and severity of seizures and stroke-like events and the use of newer therapies like cannabidiols and mTOR inhibitors are being reviewed and have shown promising early results. This comprehensive narrative review summarizes the current literature on clinical management strategies, ongoing research studies, and future directions in the diagnosis and management of SWS.<\/jats:p>","DOI":"10.3390\/jcm14072182","type":"journal-article","created":{"date-parts":[[2025,3,24]],"date-time":"2025-03-24T06:21:38Z","timestamp":1742797298000},"page":"2182","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Sturge\u2013Weber Syndrome: A Narrative Review of Clinical Presentation and Updates on Management"],"prefix":"10.3390","volume":"14","author":[{"given":"Aarnav D.","family":"Shah","sequence":"first","affiliation":[{"name":"Lake Forest Academy, Lake Forest, IL 60045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Alexieff","sequence":"additional","affiliation":[{"name":"Ann & Robert H Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4862-8924","authenticated-orcid":false,"given":"Priyamvada","family":"Tatachar","sequence":"additional","affiliation":[{"name":"Ann & Robert H Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/B978-0-444-62702-5.00011-1","article-title":"Sturge-Weber syndrome","volume":"132","author":"Comi","year":"2015","journal-title":"Handb. 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