Spina Bifida (Myelomeningocele)

Spina bifida (meningocele, myelomeningocele) is a neonatal condition in which a region of the spinal column, usually in the lower spine, undergoes abnormal growth during fetal development, creating a defect in the protective bony encasement that normally surrounds the spinal cord. As a result, children born with this condition have varying degrees of damage to the spinal cord, causing neurological abnormalities that affect the growth and function of the lower extremities. There are several types, including spina bifida occulta, myelodysplasia, and myelomeningocele.

What Causes Spina Bifida?

When the spine is forming in utero, the area where the future spinal column will be fails to form correctly, leaving a gap in its bony surface that exposes the future spinal cord to potential injury. In spina bifida patients, this injury often results in the destruction of some cells at the level of the spinal defect. Because the normal signals sent from the brain to the extremities and from the extremities back to the brain must pass through this injured area, they are disrupted, causing spasticity and/or paralysis.

How Is It Diagnosed?

It is usually diagnosed by prenatal ultrasound or amniocentesis. When the condition is less severe and not evident on ultrasound, it can usually be diagnosed at or around the time of birth, either from visual inspection of the spinal region or from neonatal physical exams that may reveal paralysis, spasticity, or a palpable defect in the vertebral column.

A range of clinical effects, or symptoms, may result from spina bifida, but among the children being seen by orthopaedic surgeons, symptoms most often include lower extremity paralysis, spasticity, or some degree of both.

How Is Spina Bifida Treated?

Treatment of spina bifida depends on the level of the spinal column affected by the condition and the resulting deficits and functional level. Treatment goals focus on preventing or minimizing deformities and maximizing your child’s capabilities at home and in the community.

Because most patients have at least some regions of their legs that lack sensation (from paralysis), skin sores and ulcers can arise from undetected pressure on the skin. Preventing such ulcers involves educating children at a young age about their causes, proper hygiene, and how to perform daily skin inspections.

One important concept in the treatment of the young child is ambulation, or walking. Infants and young children should be encouraged and assisted to meet the same developmental milestones as non-affected children, such as sitting at around 6 months, standing at around 10 months, and walking by 12 to 15 months.

Depending on the child’s overall neurologic status, the presence of major brain conditions, sensory awareness and balance, and spasticity in the extremities, patients will have varying degrees of success with ambulation and general mobility.

As a child grows and gains weight, walking can become increasingly difficult and more fatiguing, as more energy is expended to carry the extra weight. However, research suggests that virtually all children benefit from trying their best to achieve a normal level of physical activity at a young age.

Despite the fact that, in adolescence or adulthood, a patient’s condition will likely worsen and require bracing, crutches, or a wheelchair, early ambulation is critical for preventing other orthopaedic conditions, such as clubfoot or leg muscle contractures, and for maximizing cognitive development and basic motor skills.

Orthopedic treatment designed to assist ambulation may include bracing, stretching, or surgical correction of contractures, which may be necessary to initiate bracing. Orthotics, or braces, for spina bifida patients are designed to help stabilize unstable or weak joints, reduce the risk of contractures, and improve a child’s posture and lower extremity stability.

A variety of surgical procedures are also performed by orthopedic surgeons to correct bony deformities or muscle imbalances resulting from spina bifida. Among the most common are spinal surgeries, such as operations for scoliosis or kyphosis, which are common in children with thoracic or high spinal paralysis. When surgery is recommended or pursued, it is done so because it offers the best chance of drastically improving a child’s mobility and quality of life.

Fractures are more common than expected in patients with spina bifida because inactivity weakens bones and may lead to a condition called osteopenia, in which there is decreased storage of calcium in the bones. Because fractures are most common following surgical operations, early weight-bearing activity in the post-operative period and the use of braces, rather than casts, whenever possible, are usually quite beneficial for fracture prevention.