Neuropsychological features and risk factors in children with Sturge-Weber syndrome: four case reports

Clin Neuropsychol. 2010;24(5):841-59. doi: 10.1080/13854046.2010.485133. Epub 2010 Jun 14.

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.

Publication types

  • Case Reports

MeSH terms

  • Cerebral Cortex / abnormalities*
  • Child
  • Epilepsy
  • Female
  • Headache Disorders, Primary
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neurologic Examination
  • Neuropsychological Tests
  • Port-Wine Stain
  • Risk Factors
  • Sturge-Weber Syndrome / diagnosis
  • Sturge-Weber Syndrome / physiopathology*
  • Sturge-Weber Syndrome / psychology*