Background

Sturge-Weber syndrome (SWS) is a sporadic, neurocutaneous syndrome involving the skin, brain, and eyes. Because of the variability of the clinical manifestations and the lack of prospective studies, consensus recommendations for management and treatment of SWS have not been published.

Objective

This article consolidates the current literature with expert opinion to make recommendations to guide the neuroimaging evaluation and the management of the neurological and ophthalmologic features of SWS.

Methods

Thirteen national peer-recognized experts in neurology, radiology, and ophthalmology with experience treating patients with SWS were assembled. Key topics and questions were formulated for each group and included (1) risk stratification, (2) indications for referral, and (3) optimum treatment strategies. An extensive PubMed search was performed of English language articles published in 2008 to 2018, as well as recent studies identified by the expert panel. The panel made clinical practice recommendations.

Conclusions

Children with a high-risk facial port-wine birthmark (PWB) should be referred to a pediatric neurologist and a pediatric ophthalmologist for baseline evaluation and periodic follow-up. In newborns and infants with a high-risk PWB and no history of seizures or neurological symptoms, routine screening for brain involvement is not recommended, but brain imaging can be performed in select cases. Routine follow-up neuroimaging is not recommended in children with SWS and stable neurocognitive symptoms. The treatment of ophthalmologic complications, such as glaucoma, differs based on the age and clinical presentation of the patient. These recommendations will help facilitate coordinated care for patients with SWS and may improve patient outcomes.

中文翻译：

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Sturge-Weber 综合征管理和治疗的共识声明：神经病学、神经影像学和眼科建议

背景

Sturge-Weber 综合征 (SWS) 是一种散发性神经皮肤综合征，累及皮肤、大脑和眼睛。由于临床表现的多变性和前瞻性研究的缺乏，有关 SWS 管理和治疗的共识建议尚未发表。

客观的

本文将当前文献与专家意见相结合，提出建议以指导神经影像学评估以及 SWS 神经和眼科特征的管理。

方法

召集了 13 位具有治疗 SWS 患者经验的国家同行认可的神经病学、放射学和眼科专家。为每组制定了关键主题和问题，包括 (1) 风险分层，(2) 转诊指征，以及 (3) 最佳治疗策略。对 2008 年至 2018 年发表的英语文章以及专家小组确定的近期研究进行了广泛的 PubMed 搜索。该小组提出了临床实践建议。

结论

患有高危面部葡萄酒色胎记 (PWB) 的儿童应转诊给儿科神经科医生和儿科眼科医生进行基线评估和定期随访。对于患有高危 PWB 且没有癫痫发作或神经系统症状病史的新生儿和婴儿，不建议对大脑受累进行常规筛查，但可以在特定病例中进行脑成像。不建议对患有 SWS 和稳定的神经认知症状的儿童进行常规的神经影像学随访。青光眼等眼科并发症的治疗因患者的年龄和临床表现而异。这些建议将有助于促进对 SWS 患者的协调护理，并可能改善患者的预后。