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Updated: Dec 25 2021


  • Snapshot
    • An infant is born in an refugee camp to a starving mother. He has a severe anatomic defect along the spinal tract.
  • Introduction
    • Birth defect in which the spinal canal, meninges, and backbone do not close before birth
      • associated with maternal diabetes and folate deficiency
      • increased AFP in amniotic fluid and maternal serum
      • increased acetylcholinesterase in amniotic fluid
    • Most severe form of dysraphism involving the vertebral column
    • Causes the spinal cord and meninges to protrude from the opening in the infants back
    • Most common type of spina bifida
    • Thought to be caused by low folic acid levels in the mother's diet
  • Epidemiology
    • Incidence of 1/800 in the United States
  • Presentation
    • Symptoms
      • may show partial paralysis
      • sensory deficits
      • loss of bladder or bowel control
      • motor weakness
    • Physical exam
      • protruding spinal cord and meninges from the back
      • club foot may be noted
      • hydrocephalus
      • sacral dimpling
    • Pregnancy ultrasound
      • may show herniated sac and incomplete spinal closure
    • Prenatal screening
      • monitor folic acid levels in mother
    • Amniocentesis
  • Differential
    • Other spina bifida and neural tube defects
    • Diagnosis based primarily on clinical observation
  • Treatment
    • Prevention
      • prenatal vitamins (specifically, folic acid) prevents development of neural tube disorders
    • Medical management
      • folic acid supplementation for mother
        • in particular in patients on seizure medications
      • prophylactic antibiotics
        • may be indicated for prevention of meningitis and urinary tract infections
    • Surgical intervention
      • surgical repair of the defect
        • indicated in all cases to prevent further herniation
      • ventricular peritoneal shunt
        • may be indicated in patients with hydrocephalus
      • therpeutic abortion
        • may be indicated or preferred in severe cases
  • Complications
    • Scoliosis, foot or ankle deformities, dislocated hips, joint tightness or contractures, permanent present and further future spinal cord paralysis (with rapid pubescent growth period), frequent urinary tract infections, meningitis
  • Prognosis
    • Can usually be surgically corrected
    • Length of life is usually not affected with proper treatment
    • Paralysis is most often irreversible
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