Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, University; College London, London, UK.
Epilepsy Behav. 2023 Aug;145:109303. doi: 10.1016/j.yebeh.2023.109303. Epub 2023 Jun 20.
Patients with Sturge-Weber Syndrome (SWS) experience varying degrees of neurological problems - including epilepsy, hemiparesis, learning disability (LD), and stroke-like episodes. While the range of clinical problems experienced by children with SWS is well recognized, the spectrum of clinical presentation and its treatment during adulthood has been relatively neglected in the literature to date. This study explored the natural history of epileptic and nonepileptic seizures into adulthood in patients with SWS, and their treatment, and investigated whether any clinical factors predict which symptoms a patient will experience during adulthood.
A retrospective case-note review of a cohort of 26 adults with SWS at the National Hospital for Neurology and Neurosurgery (NHNN). Childhood data were also recorded, where available, to enable review of change/development of symptoms over time.
The course of epilepsy showed some improvement in adulthood - seventeen adults continued to have seizures, while six patients gained seizure freedom, and no one had adult-onset seizures. However, seizures did worsen for some patients. Although no factors reached statistical significance regarding predicting continued epilepsy in adulthood, being male, more severe LD, having required epilepsy surgery, and bilateral cortical involvement may be important. Nonepileptic seizures (NES) also began during adulthood for four patients.
By adulthood, there is some degree of improvement in epilepsy overall; while NES may occur for the first time. While the majority of the results did not survive adjustments for multiple comparisons, some interesting trends appeared, which require further investigation in a multicenter national audit. Patients with more neurologically severe presentations during childhood may continue to experience seizures. Careful monitoring and screening are needed during adulthood, to detect changes and newly developing symptoms such as NES, and target treatment promptly.
斯特奇-韦伯综合征（SWS）患者存在不同程度的神经系统问题，包括癫痫、偏瘫、学习障碍（LD）和类似中风的发作。尽管患有 SWS 的儿童所经历的一系列临床问题已广为人知，但迄今为止，文献中相对忽视了其成年后的临床表现范围及其治疗。本研究探讨了 SWS 患者成年后癫痫和非癫痫发作的自然病史及其治疗，并研究了是否存在任何临床因素可以预测患者成年后会出现哪些症状。
对国立神经病学与神经外科学院（NHNN）的 26 名 SWS 成年患者进行回顾性病历回顾。如果有条件，还记录了儿童时期的数据，以便能够回顾随时间推移的症状变化/发展。
癫痫的病程在成年期有所改善——17 名成人继续有癫痫发作，而 6 名患者癫痫发作停止，且无人出现成年后发作。然而，一些患者的癫痫发作确实恶化了。尽管没有任何因素在预测成年后持续癫痫方面具有统计学意义，但男性、更严重的 LD、需要癫痫手术和双侧皮质受累可能很重要。还有 4 名患者在成年后首次出现非癫痫性发作（NES）。
到成年时，总体上癫痫有一定程度的改善；而 NES 可能首次发生。虽然大多数结果在进行多次比较调整后未达到统计学意义，但出现了一些有趣的趋势，这需要在多中心国家审计中进一步研究。在儿童时期表现出更严重神经学表现的患者可能会继续出现癫痫发作。需要在成年期进行仔细监测和筛查，以检测 NES 等新出现的症状变化，并及时进行靶向治疗。
