| Spina bifida is a type of congenital malformation of the central nervous system. In its mildest form, spina bifida occulta, there is a malformation of the vertebral arches of the spinal cord without other problems. This occurs in 5% of the population and does not cause any symptoms or problems and no treatment is required. Some children with this disorder also have a patch of hair or skin discoloration on the skin of the lower back with the defect occurs.
Children with spina bifida, or myelomeningocele also have a malformation of the vertebral arches of the spinal cord and they have abnormalities of the spinal cord, in which the spinal cord and nerve roots protrude out. The malformation is most commonly found in the lumbosacral area of the lower back, but it can occur anywhere along the spinal cord.
Myelomeningocele occurs in about 1 per 1000 live births in the United States, and although the cause is not known, it does seem to run in certain families. The risk of having a child with myelomeningocele after having a previous child with this disorder is almost 3-4%. It is also known that the use of folic acid by pregnant women, especially if started before conception, decreases the risk of having a baby with neural tube defects.
It is possible to detect neural tube defects prenatally by testing pregnant moms for alpha-fetoprotein. This substance is elevated in the serum and amniotic fluid of mothers who are having a baby with a neural tube defect. If the alpha-fetoprotein level is elevated, then it is usually repeated and an ultrasound is done to look for any abnormalities.
The symptoms of spina bifida can include bowel and bladder problems, trouble with the muscles and nerves of the lower extremity, leading to babies being unable to move their legs or unable to respond to touch or pain. Other problems can include hydrocephalus, with or without an Arnold Chiari II malformation of the brain, club feet, frequent urinary tract infections, scoliosis, constipation, and seizures. The extent to which a baby will have these problems depends on where the malformation occurs. If the defect is in the low sacral area, then a child may have bowel and bladder problems, but he may not have any problems moving his legs and walking. A defect in the mid lumbar area may cause more symptoms with paralysis of the legs, loss of feeling, and bladder and bowel problems.
Treatment is usually carried out by a multidisciplinary team, including a neurosurgeon, urologist, physical and occupational therapists, and other professionals as needed, possibly including an orthopedic surgeon, ophthalmologist, plastic surgeon, orthotist and a pediatrician or family physician to coordinate things. Treatment will include an operation to close the defect, and evaluation for hydrocephalus with a sonogram and/or CT scan of the head, evaluation of bladder function, and evaluation of motor and sensory function.
Neural tube defects are a complex birth defect with many different presentations and outcomes. You should not read this article and try and predict what problems your infant may have. If your child has been diagnosed prenatally with this disorder, then you should try and arrange a prenatal consult with a pediatric neurosurgeon to discuss things. If diagnosed at birth, then you should still seek advice from a specialist that cares for babies with myelomeningocele.
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