Spina Bifida (Myelodysplasia)

Spina bifida is a problem that happens as the spine develops during early pregnancy. A developing baby’s spine starts as an open tube that normally closes in the second month of pregnancy. If your child has spina bifida, this tube did not close all of the way or it closed improperly during pregnancy.

There are three types of Spina bifida:

Spina Bifida Occulta

Spina bifida occulta is an older name for congenital anomalies of the spine that pose no danger and are generally never treated. A deep dimple in the skin of the lower back is often a sign of spina bifida occulta that causes no problems. However, some of these skin abnormalities may also be associated with occult spinal dysraphism and should be evaluated by your or your child’s doctor.

Occult Spinal Dysraphism

Occult spinal dysraphism (tethered cord syndrome) is a series of spinal and spinal cord abnormalities that comprise a continuum of severity. In the least severe forms, this syndrome can require a simple surgery that is curative. In the more severe forms, a child may need ongoing monitoring and intervention throughout their lives. Adult patients with tethered cord syndrome may have back abnormalities along the midline of their backs. They may also develop benign fatty collections within the spinal cord (lipomyelomeningocele) which also can cause tethered cord syndrome which requires evaluation and treatment.

Myelomeningocele

This is the most severe form of spina bifida, where the spinal cord is visible outside of the body at birth. All children with myelomeningocele require urgent surgery after birth and up to 90 percent of patients will require treatment for hydrocephalus — usually an implanted shunt — at some time in their lives.

Signs & Symptoms

Symptoms of Spina bifida vary. Signs and symptoms may include:

  • A visible sign on your child’s lower back, such as:
        o   A dimple
        o   Red or brown birthmark
        o   Unusual clump of hair
        o   Exposed area of spinal cord tissue
  • Partial to complete paralysis (difficulty walking)
  • Bowel or bladder problems
  • Difficulty feeding, swallowing, or breathing
  • Upper arm stiffness or weakness
  • Learning disabilities or brain damage
  • Seizures

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Causes & Risks

The cause of Spina bifida is not known.

The risk of spina bifida may be greater if you or a member of your family have the following:

  • Family history of spina bifida
  • During the pregnancy, the mother:
    o    Did not get enough folic acid
    o    Developed an illness that caused a high fever
    o    Had a medical condition, such as uncontrolled diabetes or obesity
    o    Was exposed to certain medications that prevent seizures

Diagnosis & Treatment

In most cases, spina bifida is diagnosed during routine pregnancy exams before a baby is born, such as:

  • An ultrasound
  • A blood test that measures levels of alpha-fetoprotein (AFP). High levels may indicate your baby has spina bifida
  • A test to screen for certain conditions using a sample of fluid from the sac that surrounds the unborn baby (amniocentesis)

After your child is born, further testing may include:

  • MRI
  • CT scan
  • X-rays

Treatment depends on the type of spina bifida and the severity of the condition. Treatment may include:

  • Surgery soon after diagnosis
  • Devices to help your child move around (assistive devices)
    o   Crutches
    o   Braces
    o   Wheelchairs
  • Physical therapy
  • Bladder and bowel management