Article

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: Sturge-Weber syndrome (SWS) is a rare, congenital neurocutaneous condition (affecting both the skin and the brain) characterized by a facial port-wine stain located specifically on the ophthalmic branch of the trigeminal nerve, cerebral vascular abnormalities, and potential eye involvement. The incidence of SWS is approximately 1 in 20,000 to 50,000 infants, and therefore all clinical presentations are important to discuss. This article describes a case presentation of SWS and then discusses the etiology, pathophysiology, management, diagnosis, and prognosis of SWS.
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