Myelomeningocele: Causes, Symptoms, and Treatment

Myelomeningoceleis a type of spina bifida or birth defect in which the baby’s spine and spinal canal do not close before birth. Doctors and health care providers can usually diagnosemyelomeningoceleduring pregnancy. 

The following is an explanation of the definition, symptoms, causes, and how to overcome it.

What is Myelomeningocele?

Myelomeningocele(also known as open spina bifida) is a congenital condition (birth defect) in which the baby’s backbone (spine) and spinal canal do not close before birth. It is a type of neural tube defect (NTD). 

Conditionmyelomeningoceledevelops in the fetus during the first four weeks of pregnancy and is characterized by incomplete closure of the neural tube and a fluid-filled sac protruding from the baby’s back. The sac contains:

• Part of their spinal cord.
• Meninges (the tissue that covers their spinal cord).
• Nerve.
• Cerebrospinal fluid (CSF).

Myelomeningocelecan occur anywhere along the baby’s spinal cord. However, it most often occurs in the lower back (lumbar and sacral areas).

Part of the spinal cord and nerves in the sac are damaged, which usually results in weakness and/or loss of sensation in the body below where the sac is located. In some cases, the sac opens. This can happen due to normal movements of the baby, either before or during birth.

Quoting fromCleveland Clinic,myelomeningoceleis the most serious type of spina bifida and causes moderate to severe disability, such as muscle weakness, loss of bladder or bowel control, and/or paralysis. 

Baby withmyelomeningocelewith a lower position in the spine usually have less severe symptoms than babies with myelomeningoceles higher in their spine.

Symptom

Newborns with this disorder will have an open area or fluid-filled sac in the middle to lower back. Signs and symptomsmyelomeningocelealso depends on where it is located.

Possible symptoms include:

• Loss of bladder or bowel control
• Partial or complete lack of sensation
• Partial or complete paralysis of the legs
• Weakness in the hips, legs, or feet of a newborn
• Abnormal feet, such as clubfoot
• Accumulation of fluid in the skull (hydrocephalus)
• Weakness, loss of feeling, or difficulty moving a body part below the level of themyelomeningocele
• Problems with how the brain is formed (Chiari malformation)
• Seizures

Sometimes babies withmyelomeningocelebeing born with other medical problems such as clubfoot, curvature of the spine, hip problems, heart problems, or kidney problems.

Reason

During the first month of pregnancy, the two sides of the baby’s spine (or backbone) normally fuse together to cover the spinal cord, spinal nerves, and meninges (the tissue that covers the spinal cord). 

The brain and spine that develop at this point are called the neural tube. The term neural tube defect (NTD) refers to any birth defect in which the neural tube in the spinal area fails to close completely.

Myelomeningoceleis an NTD in which the spine is not fully formed. This results in an incomplete spinal canal. The spinal cord and meninges protrude from the child’s back.

This condition can affect as many as 1 in every 4,000 babies. Other types of NTDs include:

• Spina bifida occulta , a condition in which the spine does not close. The spinal cord and meninges remain in place and skin usually covers the defect.
• Meningocele , a condition in which the meninges protrude from a spinal defect. The spinal cord remains in place.
• Encephalocele

A child withmyelomeningocelemay also have other abnormalities or birth defects. Eight out of ten children with this condition have hydrocephalus.

Other disorders of the spinal cord or musculoskeletal system may be seen withmyelomeningocele, including:

• Syringomyelia (fluid-filled cysts in the spinal cord)
• Hip dislocation

The cause of NTDs is unknown. However, low levels of folate in a woman’s body before and during early pregnancy appear to play a role in this type of birth defect. Folate (or folate) is important for the development of the brain and spinal cord.

If a child is born withmyelomeningocele, it is also possible for a child to pass it on in the family. However, in many cases, there is no family connection. Factors such as diabetes, obesity , and maternal use of anti-seizure medications can increase the risk of this defect.

Frequency of Occurrence

Myelomeningoceleis the most common congenital condition of the central nervous system, occurring in about 1,645 births each year in the United States. While in Indonesia itself there is no data stating how many casesmyelomeningocele.

Risk Factors

Spina bifida is more common in whites and Hispanics, and females are affected more often than males. Although doctors and researchers don’t know exactly why spina bifida occurs, they have identified several risk factors, such as:

1. Folate Deficiency 

Folate, the natural form of vitamin B-9, is essential for healthy baby development. The synthetic form, found in supplements and fortified foods, is called folic acid. Folate deficiency increases the risk of spina bifida and other neural tube defects.

2. Family history of neural tube defects

Couples who have one child with a neural tube defect have a slightly higher chance of having another baby with the same defect. That risk increases if two previous children had the condition. 

Additionally, women born with neural tube defects are more likely to have a child with spina bifida than someone without a neural tube defect. However, most babies with spina bifida are born to parents who have no family history of the condition.

3. Taking Certain Medications

For example, anticonvulsant drugs, such as valproic acid, appear to cause neural tube defects when taken during pregnancy. This may be because they interfere with the body’s ability to use folate and folic acid.

4. Diabetes 

Women with diabetes who do not have well-controlled blood sugar have a higher risk of having a baby with spina bifida.

5. Obesity

Obesity before pregnancy is associated with an increased risk of neural tube birth defects, including spina bifida.

6. Increased Body Temperature 

Some evidence suggests that increased core body temperature (hyperthermia) in the early weeks of pregnancy may increase the risk of spina bifida. Increased core body temperature, due to fever or use of a sauna or hot tub, has been associated with a small increased risk of spina bifida.

If you have known risk factors for spina bifida, talk to your doctor to determine whether you need a larger dose or a prescription dose of folic acid, even before pregnancy begins.

Also, tell your doctor if you are taking any medications. If you plan ahead, some medications can be adjusted to reduce the potential risk of spina bifida.

Diagnosis

Pregnancy screening can help detect this condition. During the second trimester, pregnant women can undergo a blood test called a quadruple screen . This test can screen formyelomeningocele, syndromedown, and other congenital diseases in babies. 

Most pregnant women carrying a baby with spina bifida will experience increased levels of a protein called maternal alpha fetoprotein (AFP).

If the quadruple screen test is positive, further testing is needed to confirm the diagnosis. These tests may include:

• Pregnancy ultrasound
• Amniocentesis

Myelomeningocelecan be seen after the baby is born. A neurological examination may show that the child has lost function related to the nerves below the defect. For example, observing how the baby responds to a pinprick in various locations can tell you where the baby is feeling the sensation.

Tests performed on a baby after birth may include X-rays, ultrasound, CT, or MRI of the spinal area.

Treatment

Doctors and health care providers may suggest genetic counseling. Intrauterine surgery to close the defect (before the baby is born) may reduce the risk of some complications later in life.

After your baby is born, surgery to repair the defect is most often recommended. Outcomes are better if the birth takes place in a center where repairs can be made. Before surgery, the baby must be handled carefully to minimize damage to the exposed spinal cord. This may include:

• Special care and positioning
• Protective device
• Changes in handling, feeding and bathing practices

Children who also have hydrocephalus may need a ventriculoperitoneal shunt. This will help drain extra fluid from the ventricles (in the brain) into the peritoneal cavity (in the abdomen).

Antibiotics may also be used to treat or prevent infections such as meningitis or urinary tract infections.

Most children will need lifelong treatment for problems caused by damage to the spinal cord and spinal nerves. Other medical care will depend on the child’s needs. Treatment may include:

• Shunt for hydrocephalus (shunt drains spinal fluid into the abdomen so it doesn’t build up)
• Foot brace to help walking
• Wheel chair
• A tube (called a catheter) to help empty the bladder
• Surgery on the spine or legs
• Surgery for Chiari malformation
• Physical therapy (PT)
• Occupational therapy (OT)
• Special assistance at school

Follow-up testing generally continues throughout the child’s life. This is done to:

• Check the progress of development
• Treat any intellectual, neurological or physical problems

Possible Complications

Complications of spina bifida may include:

• Traumatic births and difficult births
• Frequent urinary tract infections
• Accumulation of fluid in the brain (hydrocephalus)
• Loss of bowel or bladder control
• Brain infection ( meningitis )
• Permanent weakness or paralysis of the legs

This list may not include all possible complications.

Prevention

Folic acid supplements can help reduce the risk of neural tube defects such asmyelomeningocele. Any woman considering becoming pregnant is advised to take 0.4 mg of folic acid daily. High-risk pregnancies require higher doses.

It is important to remember that folate deficiency must be corrected before pregnancy, because the defect develops very early. Women who are planning to become pregnant can be screened to determine the amount of folate in their blood.

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Thus the explanation regarding the conditionsmyelomeningocele. Hopefully this information is useful and provides new knowledge for Parents !

Republished with permission from theAsianParent Indonesia