Myelomeningocele

Title

Other Names:

Meningomyelocele

Categories:

Nervous System Diseases

This disease is grouped under:

Neural tube defects; Spina bifida

Summary Summary

Myelomeningocele is the most severe form of spina bifida. It happens when parts of the spinal cord and nerves come through the open part of the spine. It causes nerve damage and other disabilities. Seventy to ninety percent of children with this condition also have too much fluid on their brains (hydrocephalus). This happens because fluid that protects the brain and spinal cord is unable to drain like it should. The fluid builds up, causing pressure and swelling. Without treatment, a person’s head grows too big, and they may have brain damage.^[1] Other disorders of the spinal cord may be seen, including syringomyelia and hip dislocation. The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy is thought to play a part in this type of birth defect.^[2]

Last updated: 1/11/2013

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:^[2]^[3]

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.^[3]

Last updated: 4/24/2012

Do you have updated information on this disease? We want to hear from you.

Treatment Treatment

A child with meningomyelocele usually has surgery to close the myelomenigocele shortly after birth. This prevents infections and helps save the spinal cord from more damage.^[1] Children who also have hydrocephalus may need a ventricular peritoneal shunt placed. This will help drain the extra fluid.^[2] In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt placement are the standard of care and are implemented soon after birth in 93-95% of patients.^[4]

Last updated: 4/24/2012

Prognosis Prognosis

Children with myelomeningocele should be scheduled for regular follow-up visits in the multidisciplinary clinic every 6 months throughout childhood and annually thereafter. These follow up visits are done to check the child’s developmental level and to treat any intellectual, neurological or physical problems. ^[4] Most children will require lifelong treatment for problems that result from damage to the spinal cord and spinal nerves. This includes:^[2]

Gentle downward pressure over the bladder may help drain the bladder. In severe cases, drainage tubes, called catheters, may be needed. Bowel training programs and a high fiber diet may improve bowel function.
Orthopedic or physical therapy may be needed to treat musculoskeletal symptoms. Braces may be needed for muscle and joint problems.
Neurological losses are treated according to the type and severity of function loss.

Last updated: 4/24/2012

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
4590 MacArthur Boulevard, NW
Washington , DC 20007
Toll-free: 800-621-3141
Telephone: 202-944-3285
Fax: 202-944-3295
E-mail: sbaa@sbaa.org
Website: http://www.spinabifidaassociation.org

Do you know of an organization? We want to hear from you.

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

NIH Hosts Rare Disease Day Event, Twitter Chat
January 24, 2019

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

There is limited information and resources on myelomeningocele where we live. I am concerned that my daughter isn't receiving the appropriate care. How is this condition usually treated? See answer

Have a question? Contact a GARD Information Specialist.