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2011 ; 17
(4
): 179-84
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Presentation, diagnosis, pathophysiology, and treatment of the neurological
features of Sturge-Weber syndrome
#MMPMID21712663
Comi AM
Neurologist
2011[Jul]; 17
(4
): 179-84
PMID21712663
show ga
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.