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The Roach Scale differentiates between cases with facial birthmark (Roach Type I) versus isolated brain involvement (Type III). Most previous studies have focussed on classic SWS Type I, but Type III cases were mostly described in case reports. We systematically compare cases with and without facial birthmark, with a focus on epilepsy variables, cerebral involvement and overall outcome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Using a cross-sectional observational study conducted through a well-established child neurologists\u2019 network, we recruited pediatric patients with clinically diagnosed SWS from Germany, Switzerland, and Austria. The patients\u2019 guardians and attending child neurologists filled in detailed questionnaires. All patients were classified according to the Roach classification by both attending child neurologists and the study team.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Our study identified 47 pediatric SWS patients (participation rate 43.2%). 35 cases (74.5%) fulfilled the criteria for classic SWS; six cases (12.8%) showed no skin involvement, the remaining cases were overlap\/atypical phacomatoses with leptomeningeal and facial CM. Male\/female ratio was 1.14, age ranged between 115\u00a0days and 17\u00a0years. Cases without facial birthmark were older at diagnosis (p\u2009=\u20090.005), and none showed ophthalmologic involvement. Comparison of age at first seizure did not reach significance after adjustment (p\u2009=\u20090.026). There was no significant difference between SWS types with regard to seizure types or frequency number of antiseizure medication (ASM), epilepsy surgery, cerebral involvement, SWS neuroscores. Multivariable analysis showed that, seizure frequency was independent of SWS type and epilepsy surgery, but was positively associated with the number of ASM required for seizure control (p\u2009=\u20090.0056). 50% of operated patients were seizure-free at study inclusion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Type I and Type III SWS cases showed comparable profiles with regard to different epilepsy features, SWS neuroscores and number of used ASM. Type III patients were older at diagnosis and showed no ophthalmologic involvement, compatible with a milder SWS phenotype. Only few patients were evaluated for surgery, despite uncontrolled, structural epilepsy. Larger cohorts are needed to reevaluate the effectiveness of surgical therapies in different SWS types.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-025-03769-2","type":"journal-article","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T11:13:45Z","timestamp":1751454825000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types"],"prefix":"10.1186","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5586-1957","authenticated-orcid":false,"given":"Sigrid","family":"Disse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Ramantani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanna","family":"K\u00fcpper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Bock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg-Christoph","family":"Korenke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Weidner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Preisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Regina","family":"Trollmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelheid","family":"Wiemer-Kruel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"Wellmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Knut","family":"Brockmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Schroeder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sascha","family":"Meyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,7,2]]},"reference":[{"issue":"4","key":"3769_CR1","doi-asserted-by":"publisher","first-page":"591","DOI":"10.1016\/S0031-3955(16)38367-5","volume":"39","author":"ES Roach","year":"1992","unstructured":"Roach ES. 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Pediatr Infect Dis J. 2016;35(2):129\u201334.","journal-title":"Pediatr Infect Dis J"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03769-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-025-03769-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-025-03769-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T11:13:49Z","timestamp":1751454829000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-025-03769-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,2]]},"references-count":53,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3769"],"URL":"https:\/\/doi.org\/10.1186\/s13023-025-03769-2","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-5890276\/v1","asserted-by":"object"}]},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,2]]},"assertion":[{"value":"24 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 July 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study protocol was approved by the responsible Institutional Review Board in Saarbr\u00fccken, University of Saarland, Germany (ID 209\/17, October 2017).. The patients\u2019 legal guardians gave informed consent in 44 cases. Three cases were sent anonymously by their attending child neurologists. As all data were stored anonymously, the above-named responsible Institutional Review Board in Saarbrucken, Germany waived informed consent in these cases (02\/2023). All tables and texts which present single patients in detail include only patients whose parents\/caregivers gave informed consent. To conclude, all obtained data were used in accordance with the General Data Protection Regulation of the European Union (\u201cDatenschutz-Grundverordnung\u201d) and the responsible Institutional Review Board.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All patients for which individual data are presented in this manuscript, gave informed consent to participation in our study and publication of their data.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All authors declare that they have no competing financial interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"336"}}