Presentation, Diagnosis, Pathophysiology, and Treatment of the Neurological Features of Sturge-Weber Syndrome

Background: Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and a capillary-venous malformation in the brain (leptomeningeal angioma). Although SWS is a congenital disorder usually presenting in infancy, occasionally neurological symptoms first present in adulthood and most affected individuals do survive into adulthood with varying degrees of neurological impairment including epilepsy, hemiparesis, visual field deficits, and cognitive impairments ranging from mild learning disabilities to severe deficits. SWS is a multisystem disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmologic, and other medical issues that can arise and impact the neurological status of these patients. Some of these clinical features have only recently been described. Review Summary: This review summarizes the neurological manifestations of SWS, discusses issues related to the diagnosis of brain involvement, relates major neuroimaging findings, briefly describes the current understanding of pathogenesis, and provides an overview of neurological treatment strategies. Conclusions: Recent clinical research has highlighted several novel and lesser-known aspects of this clinical syndrome including endocrine disorders. Functional imaging studies and clinical experience suggests that neurological progression results primarily from impaired blood flow and that prolonged seizures may contribute to this process. Treatment is largely symptomatic although aggressive efforts to prevent seizures and strokes, in young children especially, may impact outcome.