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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 sturge weber
    • 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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