Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations

Abstract

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.

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache

“…The associated risk of leptomeningeal or ocular involvement depends on the extent and location of the CM but it ranges from 7% to 28%. 26 Historically, it was thought that the distribution of facial PWB followed the distribution of the sensory innervation branches of the trigeminal nerve (ophthalmologic [V1], maxillary [V2], and mandibular [V3]) and that children with involvement of the first branch (V1) were at highest risk of SWS. [27][28][29] More recently, it has been demonstrated that the area of highest risk is the forehead, the area demarcated laterally and inferiorly by the outer margins of the canthus of the eye (including the upper eyelid) to the top of the ears.…”

“…PWB is commonly lateralized to one side of the face, but on rare occasions PWB can present at the medial forehead location. 26,65 Differentiation in these cases may be impossible from a clinical point of view and close follow-up or even brain imaging may be considered.…”

Avaliação dos Métodos de Neuroimagem na Síndrome de Sturge-Weber: Revisão Integrativa

“…Dessa forma, se considera de maior risco a MVP que afeta a pele derivada embriologicamente da proeminência frontonasal, pelo compartilhamento de células progenitoras cerebrais. São elas as regiões frontal, hemifacial e mediana (Sabeti et al, 2021;, além de regiões independentes como pálpebra superior, nariz, linha média superior e linha temporal . Também se nota que o tamanho da MVP e o envolvimento bilateral estão relacionados a maior risco e maior severidade do quadro clínico (Dymerska et al, 2017;Kaseka et al, 2016).…”

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience

“…The teams of experts who comprise multidisciplinary clinics are up to date on current guidelines and ever-evolv-ing protocols of various syndromes. [43][44][45][46][47] Multidisciplinary meetings also occur in which providers meet to discuss, refine, and create protocols. 48,49 The multidisciplinary nature of clinics is especially useful in cases of dual diagnoses in which management must be further individualized.…”