Please confirm topic selection

Are you sure you want to trigger topic in your Anconeus AI algorithm?

Please confirm action

You are done for today with this topic.

Would you like to start learning session with this topic items scheduled for future?

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
Card
1 of 0
Question
1 of 1
Private Note