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Updated: Dec 8 2021

Sturge-Weber Disease

  • Snapshot
    • A newborn boy is born to a young mother via a normal spontaneous vaginal delivery. She had not had any prenatal care during her pregnancy. On physical exam, the newborn has a large port-wine stain on the left forehead and eyelid. He is also noted to have some shaking episodes. Concerned, the physician obtains an MRI of the head, which shows a leptomeningeal angioma.
  • Introduction
    • Clinical definition
      • a congenital neurocutaneous disorder affecting small-sized blood vessels, characterized by
        • a port-wine stain in trigeminal distribution (typically V1/V2)
          • capillary malformation of the face
            • also known as nevus flammeus
        • capillary-venous malformations of the brain
          • seizures
        • capillary-venous malformations of the eye
          • early-onset glaucoma from increased intra-ocular pressure
      • also known as encephalotrigeminal angiomatosis
    • Associated conditions
      • ipsilateral leptomeningeal angioma
        • causes seizures
      • intellectual disability
      • behavioral problems
      • episcleral hemangioma
        • causes increased intra-ocular pressure and early-onset glaucoma
  • Epidemiology
    • Demographics
      • one of the more common neurocutaneous disorders, after neurofibromatosis and tuberous sclerosis
    • Genetics
      • inheritance pattern
        • sporadic
      • mutations
        • GNAQ gene somatic mosaic mutation
          • encodes for a protein involved in regulating intracellular signaling pathways
  • Presentation
    • Symptoms
      • seizures
      • intellectual disability
      • glaucoma
        • visual defects
    • Physical exam
      • unilateral port-wine stain on the head and neck
      • corneal clouding
  • Imaging
    • Magnetic resonance imaging (MRI) with gadolinium
      • indication
        • evaluate for capillary-venous malformations
      • findings
        • leptomeningeal angioma
        • episcleral hemangioma
    • Computed tomography (CT)
      • indication
        • patients contraindicated to MRI or if MRI is not available
      • findings
        • tram-tracking sign caused by brain calcifications
  • Differential
    • Klippel-Trenaunay-Weber syndrome
      • distinguishing factors
        • associated with port-wine stains
        • patients present with varicose veins, bone and soft tissue swelling, and different limb sizes
    • Making the diagnosis
      • based on clinical presentation and imaging
  • Treatment
    • Medical
      • anti-epileptics
        • indication
          • seizures
    • Non-operative
      • pulsed laser therapy
        • indication
          • port-wine stain
  • Complications
    • Neurological deficits from seizures
    • Blindness
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