Sturge-Weber syndrome and epilepsy: an argument for aggressive seizure management in these patients.

Department of Neurology, Kennedy Krieger Institute & Johns Hopkins Medicine, Baltimore, MD, USA.
Expert Review of Neurotherapeutics (Impact Factor: 2.83). 09/2007; 7(8):951-6. DOI: 10.1586/14737175.7.8.951
Source: PubMed

ABSTRACT Sturge-Weber syndrome (SWS) involves vascular malformations of the skin (facial port-wine stain), eye (glaucoma) and the brain (leptomeningeal angioma). Children born with a port-wine stain on the upper part of the face are also at risk for brain involvement. These infants and young children often develop seizures and other neurologic impairments. Progression in neurologic deficits does occur in some patients, but this is quite variable. A diagnosis of brain involvement is made with head computed tomography and contrast-enhanced MRI, but the sensitivity of standard imaging in young asymptomatic infants is low. Seizures occur in more than 75% of affected individuals. Clinical course and functional imaging suggest a role for both cerebral perfusion impairments and seizures in the development of neurologic deficits. Several controversies exist in the management of seizures and other neurologic impairments in SWS. Continued efforts are needed to develop a multicentered network for SWS clinical trials. Future research should be focused on this goal and on studies to improve our understanding of the cause(s) and molecular neuropathology of SWS.

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    ABSTRACT: Background Facial port wine stains (PWS) are usually isolated findings, however, when associated with cerebral and ocular vascular malformations they form part of the classical triad of Sturge-Weber syndrome (SWS). Our aim was to evaluate the associations between the phenotype of facial PWS and the diagnosis of SWS in a cohort with a high rate of SWS.Methods Records were reviewed of all 192 children with a facial PWS seen in 2011-13. Adverse outcome measures were clinical (seizures, abnormal neurodevelopment, glaucoma) and radiological (abnormal MRI), modelled by multivariate logistic regression.ResultsThe best predictor of adverse outcomes was a PWS involving a newly-delineated “forehead area”, stretching from the midline of the forehead to a line joining the outer canthus of the eye to the top of the ear, and including the upper eyelid. This involves all three divisions of the trigeminal nerve, but corresponds well to the embryonic vascular development of the face. Bilateral distribution was not an independently significant phenotypic feature. Abnormal MRI was a better predictor of all clinical adverse outcome measures than PWS distribution, however for practical reasons guidelines based on clinical phenotype are proposed.Conclusion Facial PWS distribution appears to follow the embryonic vasculature of the face, rather than the trigeminal nerve. We propose that children with a PWS in any part of the “forehead area” should have an urgent ophthalmology review, and a brain MRI. A prospective study has been established to test the validity of these guidelines.This article is protected by copyright. All rights reserved.
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    ABSTRACT: We report a patient with Sturge-Weber syndrome without facial angioma, who presented with seizures and normal initial imaging results. The patient experienced several years without seizures before a sudden increase in seizure frequency, followed by an atypical evolution of imaging findings prompting biopsy to establish the diagnosis. This case highlights not only the rare presentation of isolated leptomeningeal angiomatosis, but also the potential for atypical evolution of imaging findings through the course of the disease. We detail the imaging findings of our case and review the potential pathophysiological basis for this appearance. Our experience suggests that repeat imaging is warranted in patients with suspected Sturge-Weber syndrome or those with intractable cryptogenic epilepsy, because some imaging features of Sturge-Weber syndrome may manifest over time.
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