title: Neuropsychological features and risk factors in children with Sturge-Weber syndrome: four case reports.
abstract: Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder involving facial capillary malformation (port-wine birthmark) and vascular malformation of the brain that is frequently associated with epilepsy, stroke-like episodes, cognitive deficits, motor impairment, and/or visual field cut. The four cases presented here (ages 8-9, two females) illustrate the broad range of physiologic involvement and associated neuropsychological functioning in SWS, and argue against the idea of a "typical" SWS neuropsychological presentation. Rather, we highlight a preliminary collection of disease status/severity factors thought to impact neuropsychological presentation in SWS, including degree of cortical involvement (unilateral versus bilateral; posterior only versus posterior/anterior), age at time of seizure onset, extent of seizure control, history of stroke-like episodes, and magnitude of neurologic decline/deficit. We discuss the need for broad-based assessment in this medical population, as various impairment combinations (e.g., perceptual, language, executive) create unique presentations as well as the need for individualized intervention.
authors.affiliation: Department of Neuropsychology, Kennedy Krieger Institute, Baltimore, MD 21231, USA. zabela@kennedykrieger.org
authors.forename: T Andrew
authors.initials: TA
authors.lastname: Zabel
authors.forename: Jennifer
authors.initials: J
authors.lastname: Reesman
authors.forename: Ericka L
authors.initials: EL
authors.lastname: Wodka
authors.forename: Robert
authors.initials: R
authors.lastname: Gray
authors.forename: Stacy J
authors.initials: SJ
authors.lastname: Suskauer
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Turin
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Ferenc
authors.forename: Doris D M
authors.initials: DD
authors.lastname: Lin
authors.forename: Eric H
authors.initials: EH
authors.lastname: Kossoff
authors.forename: Anne M
authors.initials: AM
authors.lastname: Comi
mesh_terms: D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D004827:Epilepsy; D005260:Female; D051270:Headache Disorders, Primary; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D019339:Port-Wine Stain; D012307:Risk Factors; D013341:Sturge-Weber Syndrome / Q000175:diagnosis / Q000503:physiopathology* / Q000523:psychology*