Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types
Abstract Background Sturge-Weber Syndrome (SWS) is characterized by leptomeningeal capillary malformation (CM), glaucoma, and facial vascular birthmark. The Roach Scale differentiates between cases with facial birthmark (Roach Type I) versus isolated brain involvement (Type III). Most previous studi...
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BMC
2025-07-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03769-2 |
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| author | Sigrid Disse Georgia Ramantani Hanna Küpper Annette Bock Georg-Christoph Korenke Birgit Weidner Martin Preisel Regina Trollmann Adelheid Wiemer-Kruel Sven Wellmann Knut Brockmann Simone Schroeder Sascha Meyer |
| author_facet | Sigrid Disse Georgia Ramantani Hanna Küpper Annette Bock Georg-Christoph Korenke Birgit Weidner Martin Preisel Regina Trollmann Adelheid Wiemer-Kruel Sven Wellmann Knut Brockmann Simone Schroeder Sascha Meyer |
| author_sort | Sigrid Disse |
| collection | DOAJ |
| description | Abstract Background Sturge-Weber Syndrome (SWS) is characterized by leptomeningeal capillary malformation (CM), glaucoma, and facial vascular birthmark. 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. Methods Using a cross-sectional observational study conducted through a well-established child neurologists’ network, we recruited pediatric patients with clinically diagnosed SWS from Germany, Switzerland, and Austria. The patients’ 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. Results 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 days and 17 years. Cases without facial birthmark were older at diagnosis (p = 0.005), and none showed ophthalmologic involvement. Comparison of age at first seizure did not reach significance after adjustment (p = 0.026). 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 = 0.0056). 50% of operated patients were seizure-free at study inclusion. Conclusions 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. |
| format | Article |
| id | doaj-art-61624fffa0c143ea9288483d6396da0b |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMC |
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| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-61624fffa0c143ea9288483d6396da0b2025-08-20T03:45:32ZengBMCOrphanet Journal of Rare Diseases1750-11722025-07-0120111310.1186/s13023-025-03769-2Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different typesSigrid Disse0Georgia Ramantani1Hanna Küpper2Annette Bock3Georg-Christoph Korenke4Birgit Weidner5Martin Preisel6Regina Trollmann7Adelheid Wiemer-Kruel8Sven Wellmann9Knut Brockmann10Simone Schroeder11Sascha Meyer12University Children’s Hospital Regensburg (KUNO) – Hospital St. Hedwig of the Order of St. John, University of RegensburgDepartment of Neuropaediatrics, University Children’s Hospital ZürichUniversity Children’s Hospital TübingenUniversity Hospital EssenDepartment of Neuropaediatrics, University Children’s Hospital, Klinikum OldenburgPaediatric PracticeUniversity Hospital SalzburgPaediatric Neurology, University Children’s HospitalPaediatric Epilepsy Center Kehl-KorkUniversity Children’s Hospital Regensburg (KUNO) – Hospital St. Hedwig of the Order of St. John, University of RegensburgUniversity Medical Center Göttingen and German Center for Child and Adolescent Health (DZKJ)University Medical Center Göttingen and German Center for Child and Adolescent Health (DZKJ)Franz-Lust Klinik Für Kinder Und JugendlicheAbstract Background Sturge-Weber Syndrome (SWS) is characterized by leptomeningeal capillary malformation (CM), glaucoma, and facial vascular birthmark. 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. Methods Using a cross-sectional observational study conducted through a well-established child neurologists’ network, we recruited pediatric patients with clinically diagnosed SWS from Germany, Switzerland, and Austria. The patients’ 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. Results 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 days and 17 years. Cases without facial birthmark were older at diagnosis (p = 0.005), and none showed ophthalmologic involvement. Comparison of age at first seizure did not reach significance after adjustment (p = 0.026). 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 = 0.0056). 50% of operated patients were seizure-free at study inclusion. Conclusions 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.https://doi.org/10.1186/s13023-025-03769-2Sturge-Weber SyndromePhacomatosisObservational studyRoach classificationFacial portwine birthmark |
| spellingShingle | Sigrid Disse Georgia Ramantani Hanna Küpper Annette Bock Georg-Christoph Korenke Birgit Weidner Martin Preisel Regina Trollmann Adelheid Wiemer-Kruel Sven Wellmann Knut Brockmann Simone Schroeder Sascha Meyer Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types Orphanet Journal of Rare Diseases Sturge-Weber Syndrome Phacomatosis Observational study Roach classification Facial portwine birthmark |
| title | Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types |
| title_full | Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types |
| title_fullStr | Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types |
| title_full_unstemmed | Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types |
| title_short | Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types |
| title_sort | sturge weber syndrome in a multinational pediatric cohort a systematic analysis of different types |
| topic | Sturge-Weber Syndrome Phacomatosis Observational study Roach classification Facial portwine birthmark |
| url | https://doi.org/10.1186/s13023-025-03769-2 |
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