1. Spina Bifida Cystica

• exposure to a risk factor may alter hyaluronate metabolism which results in the failure of vertebral architecture to develop normally thus allowing the meninges +/- spinal cord to bulge out of the normal confines of the spine usually with the loss of neurologic function below the level of the lesion
• neural tube defects affecting the spine and skull are two expressions of the same disorder and a person at risk may have a child with either the spine or skull affected

2. Myelomeningocele

• myelomeningoceles are a severe form of dysraphism involving the vertebral column
• the etiology is unknown but may result from a specific biochemical abnormality of the basement membrane, i.e., hyaluronate metabolism
• the extent and degree of neurologic deficit depends on the location of the myelomeningocele
• areas of involvement:
  • 75% - Lumbosacral Region
  • 25% - all other regions along the neuroaxis

1. Myelomeningocele

• a protuberant sac-like cystic midline structure covered by a thin layer of partially epithelialized tissue with remnants of neural tissue visible beneath the membrane

2. Complications

1. Imaging Studies

2. Prenatal Diagnosis

• elevated maternal serum AFP
• level II ultrasound
• amniocentesis - elevated AFP and acetylcholinesterase

1. Team Approach

• surgeons, paeds, therapists
• correction vs supportive care
  • inclusion criteria for correction
• periodic multidisciplinary follow-up

2. Surgery

3. Medical

4. Prognosis

• mortality 10-15% if corrective therapy
• most deaths before age 4
• 70% have normal intelligence
• learning problems and seizures more common than in the general population

5. Prevention

• see file on "Meningocele"
• decrease the recurrence rate in patients at risk with 4 mg of folic acid daily from the time of conception through the first trimester