Disse Sigrid Claudia, Küpper Hanna, Bock Annette, Korenke Georg-Christoph, Ramantani Georgia, Weidner Birgit, Preisel Martin, Trollmann Regina, Wiemer-Kruel Adelheid, Brockmann Knut, Schroeder Simone, Meyer Sascha
University Children's Hospital Regensburg (KUNO) - Hospital St. Hedwig of the Order of St. John, University of Regensburg, 93049, Regensburg, Germany; Children's Hospital at University Medical Center, Homburg, Germany.
University Children's Hospital, Tübingen, Germany.
Eur J Paediatr Neurol. 2025 Jan;54:200-209. doi: 10.1016/j.ejpn.2025.02.004. Epub 2025 Feb 11.
Sturge-Weber Syndrome (SWS) is a capillary-venous malformation which includes the brain (leptomeningeal venous capillary malformation), the eye (choroidal angioma) and the skin (facial portwine birthmark, FPB). Structural epilepsy, glaucoma and FPBs pose therapeutic challenges. Considerable advances include improved neuroimaging, new antiseizure medication (ASM) and progress in epilepsy surgery. Yet, comprehensive data on epidemiology, clinical features, diagnostics, and treatment in contemporary pediatric SWS cohorts is scarce.
We conducted a multinational cross-sectional observational study in Germany, Switzerland and Austria to identify potential patients and build up a comprehensive database containing anonymized patient data. The patients' guardians and child neurologists filled in detailed questionnaires on histories, clinical features, diagnostic and therapeutic measures.
Forty-seven SWS patients from Germany, Switzerland or Austria participated in our survey (111 notifications, i.e. the participation rate was 43 %). Prevalence was 7.37/million in Germany, 4.60/million in Switzerland, 2.61/million in Austria. Severity of skin, eye and brain involvement varied highly. Forty-three patients (91 %) were diagnosed with epilepsy. Median age at first seizure was 6.5 months. Thirty-two percent of the cohort received ASM in monotherapy, fifty-three percent received combination therapy and thirteen percent received no ASM. Eight percent underwent epilepsy surgery.
In this European pediatric SWS cohort from a well-established tertiary child neurologist network, the condition was commonly diagnosed within the first year of life. 40 % of the cohort were seizure-free at inclusion; only 8.5 % of the cohort underwent epilepsy surgery. Our findings are concordant with published data from U.S. registries and case series. While our results indicate diagnostic improvement as compared to published studies, epilepsy management in SWS remains a challenge.
斯特奇-韦伯综合征（SWS）是一种毛细血管-静脉畸形，包括脑部（软脑膜静脉毛细血管畸形）、眼部（脉络膜血管瘤）和皮肤（面部葡萄酒色斑，FPB）。结构性癫痫、青光眼和面部葡萄酒色斑带来了治疗挑战。显著进展包括神经影像学的改善、新型抗癫痫药物（ASM）以及癫痫手术的进展。然而，当代儿科SWS队列中关于流行病学、临床特征、诊断和治疗的综合数据稀缺。
我们在德国、瑞士和奥地利进行了一项跨国横断面观察性研究，以识别潜在患者并建立一个包含匿名患者数据的综合数据库。患者的监护人及儿童神经科医生填写了关于病史、临床特征、诊断和治疗措施的详细问卷。
来自德国、瑞士或奥地利的47名SWS患者参与了我们的调查（111份通知，即参与率为43%）。德国的患病率为7.37/百万，瑞士为4.60/百万，奥地利为2.61/百万。皮肤、眼睛和脑部受累的严重程度差异很大。43名患者（91%）被诊断患有癫痫。首次发作的中位年龄为6.5个月。该队列中32%接受ASM单药治疗，53%接受联合治疗，13%未接受ASM治疗。8%接受了癫痫手术。
在这个来自成熟的三级儿童神经科医生网络的欧洲儿科SWS队列中，该病通常在生命的第一年内被诊断出来。该队列中40%在纳入时无癫痫发作；只有8.5%的队列接受了癫痫手术。我们的发现与美国登记处和病例系列发表的数据一致。虽然我们的结果表明与已发表的研究相比诊断有所改善，但SWS的癫痫管理仍然是一项挑战。
