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Myelomeningocele - Causes, Symptoms, Diagnosis, Complications, and Treatment

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Myelomeningocele is a defect of the spine and the spinal canal. This article will illustrate the causes and management of this condition.

Medically reviewed by

Dr. Bhaisara Baraturam Bhagrati

Published At January 2, 2023
Reviewed AtDecember 28, 2023

What Is Myelomeningocele?

Neural tube defects are the range of congenital abnormalities affecting the spine and cranial bone. These anomalies are cranial defects and open or closed spinal dysraphism. Myelomeningocele is a type of open spinal dysraphism type of neural tube birth defect, where the newborn’s spine and spinal canal are affected. There are multiple factors affecting this condition in infants, such as environmental, maternal, and genetic. It is the fluid-filled sac that obstructs the affected vertebra, as a visible lesson. It is very important to diagnose and manage the condition early to prevent further complications. On the other hand, closed spinal dysraphisms are non-visible lesions that show no physical signs during physical examination. For that reason, patients with this condition do not require any treatment and are usually asymptomatic throughout their life.

What Are the Causes of Myelomeningocele?

During the initial months of the pregnancy, usually, backbones are joined together to cover the spinal cord, its nerves, and tissues covering the spinal cord. During this first month, the brain and spine of the body develop, called the neural tube. Neural tube defects in the fetus cause failure of the closer of the spine. In myelomeningocele, a sac formation containing part of the spinal cord, its tissues, and spinal fluid pushes through a gap in the skin and spine.

There is no verified reason why babies are born with this condition. However, some of the factors are known to be influencing the condition of babies. These are:

  • A mother with folic acid deficiency during pregnancy.

  • If a mother is taking some medication related to seizures.

  • If a mother already had a previous pregnancy with spina bifida.

  • If a mother has diabetes.

What Are the Signs and Symptoms of Myelomeningocele?

The signs and symptoms of myelomeningocele depend on the location of the condition. However, common signs and symptoms include:

  • Weakness of the hips, legs, or feet of a newborn.

  • Partial or complete lack of sensation and movements of body parts below the level of myelomeningocele.

  • Problems with bladder and bowel control.

  • Hydrocephalus is a condition where there is too much fluid accumulation inside the brain.

  • Chiari malformation is a condition where there is a structural abnormality in the formation of the brain.

  • Learning disabilities in children.

  • Cognitive impairments.

  • Seizures.

  • Clubfoot (abnormality in the formation of legs or feet).

  • Heart conditions.

  • Kidney complications.

How to Diagnose Myelomeningocele?

There are many diagnostic measures related to myelomeningocele. For instance:

  • Blood Test: During pregnancy, a blood test called alpha-fetoprotein (AFP) can diagnose the myelomeningocele condition in the fetus. The protein is usually present at a higher level during the 16th to 18th week of pregnancy, when the fetus has a condition called spina bifida. If the level of this protein is higher, doctors usually recommend further testing to confirm the condition.

  • Fetal Ultrasound: It is the test that uses high-frequency sound waves that are inaudible to the human ear through the abdomen. With fetal ultrasound, the echos are recorded and transformed into video or photographic images of the fetus.

  • Fetal Magnetic Resonance Imaging (MRI): It is specialized imaging to evaluate the abnormalities related to the fetus. It is the most accurate method to diagnose myelomeningocele. Doctors usually recommend this diagnostic method during the first and second trimesters.

  • Maternal Serum Alpha-Fetoprotein (MSAFP): Serum alpha protein is the protein produced by the infant in the womb. Because of this, the mother has the same protein in her blood too. AFP in the body suggest the development of the brain and spine.

  • Fetal Echocardiogram: This diagnostic method is used to evaluate the heart condition that the infant might have.

  • Amniocentesis: It is the procedure where the amniotic fluid is removed from the uterus for testing and treatment of the fetus.

What Are the Complications Associated With Myelomeningocele?

The following are the complications associated with myelomeningocele:

1. Neurological Complications:

2. Physical Complications:

  • Immobility.

3. Musculoskeletal Complications:

  • Scoliosis.

  • Muscle weakness.

4. Psychological Complications:

How to Manage Myelomeningocele?

Normally doctors start with genetic counseling and then intrauterine surgery to close the defect before the baby is born and do the surgery. This treatment option can reduce the further complications associated with this disorder.

After birth, the surgical correction of the defect is recommended within the first few days of life. It is recommended that the mother give birth at the same center, where the surgical correction of the newborn can be done right after birth. It reduces the chances of damaging the exposed spinal cord. Moreover, it also:

  • Provides special care and positioning advice to the parents or caretakers.

  • It enables patients to use protective devices.

  • Mothers can be trained to handle, feed, and bathe the newborn with extra care and technique.

Other than these, there are many management options for this condition, and each one of them should be religiously followed as per the needs of the newborns, such as:

  • Newborns, within three days after birth, require surgical closing of the space and skin over the myelomeningocele.

  • Infants require constant checkups and CT scans, and MRIs to check for Chiari malformation and hydrocephalus.

  • Newborns with this condition need regular head size checks to see if they have developed hydrocephalus.

  • Their movements are regularly checked, too, to see the function of the spinal cord and nerves.

  • Surgical placement of the shunt can drain extra built-up spinal fluid in the condition of hydrocephalus. It drains extra spinal fluid into the belly.

  • For children with a walking disability, leg braces are provided to aid in walking.

  • For extreme walking disabilities, a wheelchair can be another option.

  • If a child has bladder voiding problems, a tube called a catheter can help to empty the bladder.

  • For defects, surgical therapy is given to treat the spine or legs.

  • Some of the children might require physical therapy.

  • Occupational therapy.

  • Special help at the school.

Conclusion:

A myelomeningocele can give a child lifelong health complications or disabilities. It is very important to diagnose the condition on time and give supportive treatment as soon as possible. For most children, it is a matter of ongoing care throughout their life, and for parents, it is essential to follow medical appointments and treatment recommendations on time. Also, in case of the smallest symptoms like weakness, parents should immediately seek medical attention in the case of myelomeningocele.

Frequently Asked Questions

1.

How to Treat Myelomeningocele?

Surgical correction of the defect in myelomeningocele is recommended after birth within the first few days. Newborns require surgical closing of the skin over the myelomeningocele within three days of birth, which reduces damage to the exposed spinal cord. In the case of hydrocephalus, surgical placement of a shunt can lessen the excess spinal fluid accumulation. This shunt will help redirect the excess spinal fluid from the brain to the abdominal cavity facilitating its drainage.

2.

How Does Myelomeningocele Present?

The signs and symptoms of myelomeningocele depend on its location. Following are the signs and symptoms:
- Weakness of hips, feet, legs, or feet of a newborn.
- Partial or complete lack of sensation and body part moving below the myelomeningocele level.
- Hydrocephalus (a condition where there is too much fluid accumulation inside the brain).
- Bowel and bladder control problems.
- Learning disabilities in children.
- Chiari malformation (a condition where there is a structural abnormality in brain formation).
- Seizures.
- Cognitive impairments.
- Heart conditions.
- Kidney complications.
- Clubfoot (an abnormality in leg and foot formation).

3.

What Complications Occur in Myelomeningocele?

Complications associated with myelomeningocele are as follows:
- Neurological complications include neurogenic bladder, seizures, and bowel dysfunction. 
- Physical complications like immobility.
- Musculoskeletal complications like muscle weakness and scoliosis.
- Psychological complications like depression. 

4.

What Are the Various Stages of Myelomeningocele?

Functional classification of the condition myelomeningocele has four levels. They are MMFC1, MMFC2, MMFC3, and MMFC4. MMFC1 group involves patients with significant muscle weakness. In MMFC2 group patients, there can be functional knee flexors, knee extensors, and hip flexors, but hip abductors can be weak. In MMFC3 group patients, there can be functional knee flexors, hip abductors, knee extensors, and hip flexors. The MMFC4 group patients contain patients with preserved function in the legs’ musculature.

5.

How Long Does It Take To Recover From Myelomeningocele?

An infant is recommended to stay at the hospital for two weeks after surgical correction. Children affected with sacral and low lumbar myelomeningocele usually have a normal walking pattern, but they might need assistive devices and braces. A baby can learn and walk normally based on the extent of the spinal defect.

6.

What Is the Most Significant Problem of Children Born With Myelomeningocele?

The common problem in infants born with myelomeningocele is hydrocephalus. Hydrocephalus refers to fluid accumulation in the brain. They can also have complications like lifelong neurological deficits and physical disabilities. Based on the spinal cord defect level and its extent, the severity of disabilities can vary. 

7.

Can Myelomeningocele Be Painful?

 
Myelomeningocele does not cause pain by itself as it is a birth defect resulting from incomplete spinal cord development. Patients affected with myelomeningocele may experience painful symptoms due to associated complications like urinary tract infections, pressure sores, or orthopedic problems.  

8.

Is It Possible to Lead a Normal Life With Myelomeningocele?

Most of the newborns with myelomeningocele can be treated with surgical correction. Myelomeningocele, also called spina bifida, is characterized by a birth defect in which the spinal cord and its covering are incomplete. Affected individuals can be able to lead a normal life with the use of assistive devices to help mobility and physical function. Medical interventions like medication, catheterization, and bowel management programs help in bowel and bladder function efficiency. Sexual functions are not altered in affected patients, and they can have children normally.

9.

Where Can Myelomeningocele Be Seen?

 
Myelomeningocele can be seen anywhere along the baby’s spinal cord, but it is frequently seen in the lower back in the sacral and lumbar areas. It typically involves damage to the spinal cord and nerves within the sac, which leads to reduced sensation and weakness in the body parts below the location of the sac.

10.

Can Myelomeningocele Be Due to a Genetic Problem?

There is no specific reason for why this condition occurs. Meningomyelocele occurs due to genetic and environmental factors that include the following:
- Women with folic acid deficiency during pregnancy.
- A mother who is affected with diabetes.
- Mother with spina bifida in a previous pregnancy. 
- A mother who takes seizure medications.
Dr. Bhaisara Baraturam Bhagrati
Dr. Bhaisara Baraturam Bhagrati

Pediatrics

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