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. Given the variability of clinical outcome and the lack of prospective studies, consensus recommendations for management and treatment have not reached a conclusion. Objective This consensus statement aims to consolidate the current literature with expert opinion to make recommendations that will guide treatment and referral, particularly regarding the neurological and ophthalmological features of the disease as well as neuroimaging workup. Methods Thirteen national peer-recognized experts in neurology, radiology, and ophthalmology with experience treating SWS patients were assembled. Key topics and questions were formulated for each group and included: (a) risk stratification; (b) indications for referral; and (c) optimum treatment strategies. An extensive PubMed search was performed of English language articles published in 2008-2018, as well as recent studies identified by the expert panel. Clinical practice guidelines were recommended. Conclusions Any child with a high-risk facial port-wine birthmark (PWB) should be referred to a pediatric neurologist and pediatric ophthalmologist for a baseline neurological evaluation and ophthalmic evaluation, respectively, with 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.