Myelomeningocele

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Other Names:

Meningomyelocele

Categories:

Nervous System Diseases

This disease is grouped under:

Neural tube defects; Spina bifida

Summary Summary

Myelomeningocele occurs when the spine and spinal cord do not form correctly during early development, causing a condition known as spina bifida. Myelomeningocele is the most serious form of spina bifida. It happens when parts of the spinal cord and nerves pop out through the open part of the spine. This leads to spinal cord and spinal nerve damage and other disabilities. Symptoms of a myelomeningocele include a decreased ability to feel sensation below the opening in the spine. Other symptoms include decreased leg movement and the inability to control the bladder and bowels. Many children with this condition develop too much fluid around the brain (hydrocephalus). Without treatment, this can lead to brain damage. The cause of myelomeningocele is unknown. Both genetic and environmental factors are thought to be involved. Low levels of folic acid during early pregnancy are known to contribute to the occurrence of spina bifida and myelomeningocele. During pregnancy, myelomeningocele is often diagnosed due to an abnormal alpha fetoprotein screening test. Imaging studies such as a fetal ultrasound done during pregnancy or an MRI or CT scan done after birth are also used. Treatment is focused on managing the symptoms and typically involves surgery to close the opening in the spine. Options for surgery include fetal surgery done during pregnancy or surgery done shortly after the baby is born.^[1]^[2]^[3]^[4]

Last updated: 1/21/2021

Symptoms Symptoms

A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:^[1]^[5]

Loss of bladder or bowel control
Partial or complete lack of sensation
Partial or complete paralysis of the legs
Weakness of the hips, legs, or feet

Some individuals may have additional symptoms. Other symptoms include:

Abnormal feet or legs, such as clubfoot.
Build up of fluid inside the skull (hydrocephalus)
Hair at the back part of the pelvis called the sacral area
Dimpling of the sacral area
Meningitis
Chiari II malformation

Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering, or tethered cord syndrome. A part of the spinal cord becomes fastened to an immovable structure—such as overlying membranes and vertebrae—causing the spinal cord to become abnormally stretched and the vertebrae elongated with growth and movement. This condition can cause change in the muscle function of the legs, as well as changes in bowel and bladder function. Early surgery on the spinal cord may help the child to regain a normal level of functioning and prevent further neurological deterioration.^[5]

Last updated: 4/24/2012

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Treatment Treatment

Treatment for myelomeningocele typically involves surgery to repair the opening in the spine. Surgery can be done before or shortly after birth. Surgery before birth (fetal surgery) is an option depending on the severity of the myelomeningocele and the health of the mother. While surgery may prevent symptoms from getting worse, it cannot correct any damage to the spinal cord of nerves that is already present.

Other treatment options are focused on managing the long-term symptoms and may include a ventriculoperitoneal shunt to drain fluid from the head, antibiotics as protection from infection, and physical therapy.^[3]^[4]

Specialists involved in the care of someone with myelomeningocele may include:

Neurologist
Neurosurgeon
Fetal surgeon
Urologist
Orthopedist
Dermatologist
Physical therapist

Last updated: 1/22/2021

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

The Spina Bifida Association maintains a list of nationwide clinics that specialize in spina bifida care and treatment.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Myelomeningocele. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Spina Bifida Association
1600 Wilson Blvd, Suite 800
Arlington, VA 22209
Toll-free: 1-800-621-3141
E-mail: sbaa@sbaa.org
Website: https://www.spinabifidaassociation.org/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
PubMed is a searchable database of medical literature and lists journal articles that discuss Myelomeningocele. Click on the link to view a sample search on this topic.

News & Events News & Events

News

Rare Disease Day at NIH 2021
March 1, 2021

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References References

Zieve D., Eltz D., Kaneshiro N . Myelomeingocele. Medline Plus. 2011; http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm. Accessed 4/24/2012.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet. Nov 20-26, 2004; 364(9448):1885-95. https://pubmed.ncbi.nlm.nih.gov/15555669/.
Phillips LA, Burton JM, Evans SH. Spina Bifida Management. Curr Probl Pediatr Adolesc Health Care. Jul 2017; 47(7):173-177. https://pubmed.ncbi.nlm.nih.gov/28734746/.
ACOG Committee Opinion No. 720. Maternal-Fetal Surgery for Myelomeningocele. Obstet Gynecol. Sep 2017; 130(3):e164-e167. https://pubmed.ncbi.nlm.nih.gov/28832491/.
National Institutes of Neurological Disorders and Stroke. Spina Bifida fact sheet. NINDS. February 2012; http://www.ninds.nih.gov/disorders/spina_bifida/detail_spina_bifida.htm. Accessed 4/24/2012.