Meningomyelocele is a type of spina bifida, a birth defect in which the spinal canal and the backbone do not close before birth. This type of birth defect is also called a neural tube defect. In many cases, the spinal cord and the meninges (the tissue that covers the spinal cord) may protrude through the child’s back. In some cases, skin covers the spinal cord and meninges. In some cases, it sticks through the skin. Spina bifida most commonly occurs in three forms: spina bifida occulta, meningoceles and meningomyelocele.

Of these three, meningomyelocele is the most common and serious. According to the National Institutes of Health, this condition occurs in about one out of every 800 babies. Doctors don’t know exactly why this condition occurs. A lack of folic acid before and during early pregnancy impairs the development of the spinal cord. The condition may also be partly genetic. Having one child with this disease makes it more likely that you will have another affected child.

What are the symptoms?

A baby with meningomyelocele is born with the spinal cord exposed. The baby may have a sac on his or her mid to lower back. The exact symptoms and their severity depend on each child’s particular case. In this severe case of spina bifida, the spinal cord is typically abnormal. The affected body parts are those below the location of the problem, specifically the legs, bladder and bowels. In some children, these body parts are only mildly affected. Others might have complete loss of control of their bladder and/or bowel. The legs may be partially or completely paralyzed or lack sensation.

How is it diagnosed?

Other possible symptoms include: orthopaedic deformities, hydrocephalus (buildup of fluid in the skull that leads to swelling of the brain) and Chiari II malformation (structural defects in the part of the brain that controls balance). Since the spinal cord is exposed, a child with meningomyelocele is also at risk of developing bacterial meningitis.

This condition is usually diagnosed during the second trimester of pregnancy when women can have a blood test called the quadruple screen. The test can screen for several conditions including meningomyelocele, Down syndrome and other congenital diseases of the baby. If the screen test is positive, further testing including a pregnancy ultrasound and/or amniocentesis can confirm the diagnosis.

What are the treatment options?

This condition is typically diagnosed during early pregnancy, and some women opt to terminate the pregnancy. Once the baby is born, he or she will generally need surgery after birth. Prompt surgery can help protect the child from infections such as meningitis. The doctor might prescribe antibiotics as an additional measure in preventing these infections.

If the child has hydrocephalus, sometimes called water on the brain, he or she may need to have a shunt inserted. This shunt can drain the extra liquid from around the brain reducing pressure on the brain into the child’s abdomen. The child may not develop bladder control. If this is the case, he or she might need a catheter to help drain the bladder.

Because of the effect this condition can have on a child’s lower limbs, he or she might need to wear braces, an orthopaedic device that support the legs and/or main part of the body.

In most cases, the child will need lifelong treatment. He or she will need to be seen regularly to assess any developing problems. He or she may also need to use a wheelchair for life.