Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types

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.