Spina Bifida/Myelomeningocele

Spina bifida is a defect in which the spine and spinal cord do not form correctly in an embryo. Myelomeningocele is a severe type of spina bifida. In this condition, the spinal canal is open and exposed along the lower portion of the spine. This can often cause serious complications.

Key Facts

  • Spina bifida occurs when the neural tube, which is the structure that eventually forms the brain and spinal cord in an embryo, does not close or develop properly.
  • Myelomeningocele is the most severe type of spina bifida. It occurs when the bones of the spinal canal do not close, causing a portion of the spinal cord and tissue to protrude.
  • Although spina bifida and myelomeningocele can cause serious complications, they can often be diagnosed before birth. Multiple treatment and management options exist.

Causes

The cause of spina bifida is still not well understood. Currently, doctors think it may result from a combination of nutritional, environmental, and genetic factors. For example, low levels of vitamin B-9 (folate or folic acid) during early pregnancy have been linked to an increased risk.

Other risk factors for spina bifida include the following:

  • Diabetes: Women with diabetes, in particular those who do not control their blood sugar levels, have a greater chance of having a child with spina bifida.
  • Elevated Body Temperature: Raising internal body temperature early pregnancy, either through a fever or using a hot tub or sauna, may increase the risk of spina bifida.
  • Ethnicity: Spina bifida most frequently occurs in whites and Hispanics.
  • Gender: Women are at a higher risk of developing spina bifida than men.
  • Medications: Certain medications that can interfere with the body’s ability to use vitamin B-9, such as Depakene, may increase the risk of spina bifida if used during pregnancy.
  • Obesity: Women who are obese prior to their pregnancy are at a greater risk of having a child with spina bifida.

Symptoms

Symptoms of spina bifida can range from minimal to severe depending on the type, the location of the defect, and which nerves are involved. 

The following are the three most common types of spina bifida:

  • Spina Bifida Occulta: This is the mildest and most common type. It’s characterized by a small gap in one or more of the bones in the spine. It often does not have symptoms.
  • Meningocele: This is the rarest type. It’s characterized by a sac of spinal fluid protruding from a gap in the spine and through the back. Symptoms can range from mild to severe.
  • Myelomeningocele: This is the most severe type. It’s characterized by a sac of spinal fluid, nerves, and/or a part of the spinal cord protruding from a gap in the spine and through the back. Symptoms are often severe.

While spina bifida occulta typically has no symptoms, meningocele and myelomeningocele may come with any of the following signs and complications:

  • Bowel and bladder problems
  • Breathing and swallowing problems
  • Curved spine (scoliosis)
  • Deformities in muscles, bones, and/or joints
  • Fluid retention in the brain (hydrocephalus)
  • Infection of tissues surrounding the brain (meningitis)
  • Muscle weakness
  • Paralysis
  • Sores and blisters
  • Tethered spinal cord

Diagnosis

Spina bifida can usually be diagnosed during pregnancy. The following are the most common ways to detect this defect:

  • Amniocentesis: Doctors use a needle to extract a sample of fluid from the amniotic sac surrounding the baby, which they test for genetic and developmental abnormalities.
  • Blood Tests: These measure levels of alpha-fetoprotein (AFP), a protein made naturally by the fetus and placenta. High levels of AFP may indicate spina bifida.
  • Ultrasound: This imaging test uses soundwaves to create a detailed image of the fetus, allowing doctors to detect signs of spina bifida, such as an open spine.

If a diagnosis is not made before birth, the following are the most common ways to detect spina bifida once the baby has been born:

  • Imaging Tests: These are used to create a more detailed image of the spine so that doctors can determine if there are any defects. They may include ultrasounds, magnetic resonance imaging (MRI) exams, x-rays, and computerized tomography (CT) scans.
  • Neurologic Exam: This will test whether the infant has any nerve-related loss of feeling below the defect. It may involve making pinpricks on the skin to observe their reaction. 

Treatment

There is no treatment that can cure spina bifida. Damaged nerves and spinal cord cannot be repaired or replaced. Because of this, current treatment focuses on minimizing further damage and managing complications.

Surgery

The most severe types of spina bifida (i.e., meningocele and myelomeningocele) can be treated with surgery while the baby is still in the womb (also known as fetal surgery). During this procedure, surgeons open up the mother’s abdomen and uterus, then sew shut the abnormal opening in the baby’s developing spinal cord. This can help reduce the chance of the baby developing disabilities, as well as hydrocephalus. However, this type of surgery also comes with significant risks, such as premature birth.

If surgery before birth is not possible, it can also be done in the first few days after birth. During this procedure, a surgeon will move the exposed spinal cord and tissue back inside the infant’s body, then cover it up with muscle and skin. They may also place a shunt in the brain in order to minimize the effects of hydrocephalus.

Other Treatments

Babies with myelomeningocele will likely require a variety of treatments throughout their lives in order to manage the complications of their condition. These may include the following:

  • Bowel and Bladder Management: Medications, catheters, suppositories, and surgery, are often necessary to manage bowel and bladder issues that accompany spina bifida.
  • Mobility Aids: Ongoing physical therapy, in addition to aids such as crutches, walkers, and wheelchairs, will help children with spina bifida remain independent.
  • Shunts: Ventricular shunts are tubes that can drain excess fluid from the brain into the abdomen. This can help control hydrocephalus.

Outlook

The long-term prognosis for children with spina bifida will depend on the type they have, the nerves involved, and the severity of the defect. In general, while many children will likely require ongoing care and management, the majority can expect to lead long and fulfilling lives.

Survival Rates and Complications

Due to the variety of forms spina bifida can take, calculating exact survival rates is not possible. However, advances in medical treatments, such as fetal surgery, have helped ensure almost all children born with spina bifida survive. Instead, it can be more useful to consider the long-term complications that are associated with each type of spina bifida.

  • Spina Bifida Occulta: This type has little to no complications. In fact, most people with this form of spina bifida aren’t even aware they have it.
  • Meningocele: Because this type does not involve the nerves and spinal cord, it often does not cause any complications.  
  • Myelomeningocele: Because this type does involve the nerves and spinal cord, it can cause serious complications. The higher up the spinal cord the defect occurs, the more serious these complications may be.

Long-Term Management

Patients with myelomeningocele will require a variety of care throughout the rest of their lives. This may include evaluations and treatments from one or more of the following specialists:

  • Neurologists
  • Nutritionists
  • Orthopedics
  • Physical therapists
  • Psychologists
  • Special education teachers
  • Urologists

With proper care and treatment, the vast majority of children with myelomeningocele and other forms of spina bifida can expect to live fully functioning lives well into adulthood.

Next Steps

Columbia’s Pediatric Surgery program is a world-recognized leader in diagnosing, treating, and managing every form and severity of spina bifida. Our team has helped pioneer in fetal surgical techniques and works alongside a multidisciplinary group of specialists to improve the long-term quality of life for every child with spina bifida.

Call us at (212) 342-8585 or use our online form to schedule an appointment.  

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