Updated: 3/27/2018

Sturge-Weber Disease

Review Topic
  • 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.
  • 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
  • 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
  • Associated conditions
    • ipsilateral leptomeningeal angioma
      • causes seizures
    • intellectual disability
    • behavioral problems
    • episcleral hemangioma
      • causes increased intra-ocular pressure and early-onset glaucoma
  • Symptoms
    • seizures
    • intellectual disability
    • glaucoma
      • visual defects
  • Physical exam
    • unilateral port-wine stain on the head and neck
    • corneal clouding
  • 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
  • Making the diagnosis
    • based on clinical presentation and imaging
  • 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
  • Medical
    • anti-epileptics
      • indication
        • seizures
  • Non-operative
    • pulsed laser therapy
      • indication
        • port-wine stain
  • Neurological deficits from seizures
  • Blindness

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