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

Abstract

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 neurologic symptoms first present in adulthood and most affected individuals do survive into adulthood with varying degrees of neurologic impairment including epilepsy, hemiparesis, visual field deficits and cognitive impairments ranging from mild learning disabilities to severe deficits. SWS is a multi-system disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmologic, and other medical issues that can arise and impact the neurologic status of these patients. Some of these clinical features have only recently been described. Review Summary This review summarizes the neurologic 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 neurologic treatment strategies. Conclusion 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 neurologic 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.

Epilepsy: A Spectrum Disorder

“…Sturge -Weber syndrome is a nonfamilial neurocutaneous syndrome in which a venous angioma of the leptomeninges is accompanied by ipsilateral nevus flammeus of the skin supplied by the trigeminal nerve. Seventy percent of these patients develop seizures within the first year of life and almost all have epilepsy before 4 years of age (Comi 2011). …”

Vascular anomalies: classification, imaging characteristics and implications for interventional radiology treatment approaches

“…Contrast-enhanced T 1 weighted MRI classically shows leptomeningeal vascular malformation (Figure 3c), while dilation and enhancement of the ipsilateral choroid plexus is often seen in older children and adults. 22 CMs are treated in early childhood to prevent inevitable thickening and hypertrophy leading to disfigurement. The gold standard treatment is pulsed dye laser therapy, whereby haemoglobin absorbs laser light and converts it to heat causing blood vessel coagulation.…”

Sturge-Weber syndrome: clinical and radiological evaluation

“…Bu olguların 8'inde (%72.7) psikomotor gelişme geriliği saptandı. (1)(2)(3)(4)(5)(6)(12)(13)(14)(15). Bu çalışmadaki olguların 9' unda EEG' de fokal epileptiform anomali (FEA), bir olguda da multifokal epileptiform anomali (MEA) saptandı.…”