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Updated: May 5 2018

Sturge-Weber Syndrome

  • Snapshot
    • A 5-year-old male presents with an unprovoked convulsive episode that lead to right-sided hemiparesis. On physical exam, a port wine stain is appreciated, affecting the ophthalmic and maxillary division of the trigeminal nerve on the left side of the face. Head CT shows brain calcifications.
  • Introduction
    • Congenital vascular disorder characterized by
      • port wine stain (capillary malformation of the face, nevus flammeus)
        • primarily in V1 or V2 distribution of the trigeminal nerve
      • capillary-venous malformation (eye and brain)
    • Etiology
      • GNAQ gene somatic mosaic mutation
        • GNAQ gene product is involved in regulating intracellular signaling pathways
      • this is a non-inherited disease
    • Associated with:
      • leptomeningeal angioma
        • usually ipsilateral to port wine stain
      • seizures
      • capillary-venous malformation
      • intellectual disability
      • behavioral problems
      • ophthalmologic involvement
        • glaucoma
        • visual field defect
  • Presentation
    • Symptoms
      • port wine stain
      • seizures
      • intellectual disability
      • behavioral problems
      • decreased visual acuity and/or visual field defect
  • Evaluation
    • Clinical findings
      • port wine stain
    • MRI of the brain with gadolinium (preferred)
      • shows leptomeningeal capillary-venous malformation
      • if MRI is not available, head CT may show brain calcification ("tram-tracking" sign)
  • Differential
    • Klippel-Trenaunay-Weber syndrome
    • Beckwith-Wiedemann syndrome
  • Treatment
    • No specific treatment
  • Prognosis, Prevention, and Complications
    • Complications
      • glaucoma
      • seizures
      • hemiparesis
      • mental retardation
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