Disse Sigrid, Ramantani Georgia, Küpper Hanna, Bock Annette, Korenke Georg-Christoph, Weidner Birgit, Preisel Martin, Trollmann Regina, Wiemer-Kruel Adelheid, Wellmann Sven, Brockmann Knut, Schroeder Simone, Meyer Sascha
University Children's Hospital Regensburg (KUNO) - Hospital St. Hedwig of the Order of St. John, University of Regensburg, Linik St. Hedwig, Steinmetzstraße 1-3, 93049, Regensburg, Germany.
Department of Neuropaediatrics, University Children's Hospital Zürich, Zürich, Switzerland.
Orphanet J Rare Dis. 2025 Jul 2;20(1):336. doi: 10.1186/s13023-025-03769-2.
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.
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.
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.
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.
斯特奇-韦伯综合征（SWS）的特征为软脑膜毛细血管畸形（CM）、青光眼和面部血管性胎记。罗奇量表区分有面部胎记的病例（罗奇I型）和孤立性脑受累病例（III型）。此前大多数研究聚焦于典型的I型SWS，但III型病例大多在病例报告中有所描述。我们系统地比较了有和没有面部胎记的病例，重点关注癫痫变量、脑受累情况和总体预后。
通过一个成熟的儿童神经科医生网络进行横断面观察性研究，我们招募了来自德国、瑞士和奥地利临床诊断为SWS的儿科患者。患者的监护人及主治儿童神经科医生填写详细问卷。主治儿童神经科医生和研究团队均根据罗奇分类法对所有患者进行分类。
我们的研究确定了47例儿科SWS患者（参与率43.2%）。35例（74.5%）符合典型SWS的标准；6例（12.8%）无皮肤受累，其余病例为伴有软脑膜和面部CM的重叠/非典型错构瘤。男女比例为1.14，年龄在115天至17岁之间。无面部胎记的病例诊断时年龄较大（p = 0.005），且均无眼科受累情况。调整后首次癫痫发作年龄的比较未达到显著差异（p = 0.026）。在癫痫发作类型、抗癫痫药物（ASM）使用频率、癫痫手术、脑受累情况、SWS神经评分方面，各SWS类型之间无显著差异。多变量分析显示，癫痫发作频率与SWS类型和癫痫手术无关，但与控制癫痫发作所需的ASM数量呈正相关（p = 0.0056）。50%的接受手术的患者在纳入研究时无癫痫发作。
I型和III型SWS病例在不同癫痫特征、SWS神经评分和ASM使用数量方面表现出相似的情况。III型患者诊断时年龄较大且无眼科受累情况，与较轻的SWS表型相符。尽管存在无法控制的结构性癫痫，但仅有少数患者接受了手术评估。需要更大规模的队列来重新评估不同SWS类型中手术治疗的有效性。
