Spina Bifida
What is Spina Bifida?
Spina bifida is a congenital (present at birth) condition that affects the development of the spine and spinal cord. It occurs when the neural tube, which normally forms the brain and spinal cord during early fetal development, doesn't close completely. As a result, there can be openings or defects in the bones of the spine, allowing the spinal cord and its protective covering (meninges) to protrude through these openings.
What are the Types of Spina Bifida?
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Spina Bifida Occulta: This is the mildest and most common form of spina bifida. In this type, the outer part of some of the vertebrae is not fully closed, but the spinal cord and meninges (protective coverings) remain inside the spine and are not exposed through the skin. There is usually no noticeable sac or protrusion, and the condition often goes undiagnosed unless imaging studies are performed for other reasons. Some people with spina bifida occulta do not experience symptoms or neurological issues.
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Meningocele: In this type, a sac filled with cerebrospinal fluid (CSF) protrudes through the opening in the spine. The spinal cord is not involved, and there is less risk of nerve damage compared to myelomeningocele. The sac may be covered by skin or a thin membrane. Meningocele can often be surgically repaired, and the prognosis is generally better than with myelomeningocele.
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Myelomeningocele (Open Spina Bifida): This is the most severe and recognizable form of spina bifida. In myelomeningocele, the spinal cord and meninges protrude through the opening in the spine, and they may be exposed externally. This condition can result in nerve damage, paralysis, sensory loss, and a range of other neurological and physical complications. Babies with myelomeningocele often require surgery, either in the fetal period or shortly after birth to close the spinal defect and protect the exposed tissues.
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Myelocystocele: This is defined as spinal dysraphism with localized, cystic dilatation of the central canal of the spinal cord herniated through the posterior bifid elements.
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Lipomyelomeningocele: This is a large collection of fatty tissue that is intricately attached to the spinal cord and its exiting nerve roots and exits through the posterior bifid spine. Patients with this pathology often have a visible lump over the lumbosacral region.
In addition to these main types, there are variations and subtypes of spina bifida that can involve different levels of the spine and vary in severity. The term "spina bifida" is often used to refer to all forms of the condition, but it's important to differentiate between the specific types when discussing diagnosis, treatment, and prognosis.
What Might Cause Spina Bifida in Children?
The exact cause of spina bifida is not fully understood, but it is thought to be a combination of genetic and environmental factors. Here are some factors that may contribute to the development of spina bifida:
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Genetic Factors: There is evidence to suggest that certain genetic factors play a role in the development of spina bifida. Family history of spina bifida or other neural tube defects can increase the risk of having a child with the condition.
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Folate Deficiency: Adequate intake of folic acid (a B-vitamin) during early pregnancy is crucial for proper neural tube development in the fetus. A deficiency in folic acid has been linked to an increased risk of spina bifida and other neural tube defects. This is why many healthcare providers recommend that women of childbearing age take folic acid supplements before and during pregnancy.
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Environmental Factors: Some environmental factors, such as certain medications, exposure to certain chemicals, obesity, uncontrolled diabetes, and infections during pregnancy, have been suggested as potential risk factors for spina bifida. However, the specific associations and mechanisms are still being studied.
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Hyperthermia (Increased Body Temperature): Some studies have suggested a link between maternal hyperthermia (high body temperature) in early pregnancy and an increased risk of spina bifida.
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Medications: Some medications, such as certain antiseizure drugs, have been associated with a higher risk of neural tube defects like spina bifida when taken during pregnancy. It's important for pregnant women to discuss medication use with their healthcare provider.
Because of the multifactorial nature of spina bifida, preventing the condition is not always straightforward. However, taking folic acid supplements before and during pregnancy, maintaining a healthy lifestyle, and avoiding known risk factors can contribute to reducing the risk of spina bifida and other neural tube defects.
What Symptoms Might Spina Bifida Cause in Children
Spina bifida can cause a range of symptoms and complications in children, depending on the type and severity of the condition, which may include:
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Minimal to No Symptoms: No noticeable symptoms or small birthmark, dimple, or tuft of hair over the site of the spinal defect
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Paralysis: Partial or complete paralysis of the legs and sometimes the lower trunk, depending on the level of the defect.
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Sensory Loss: Loss of sensation in the lower body, often accompanied by numbness.
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Bladder and Bowel Dysfunction: Problems with bladder and bowel control, leading to urinary and fecal incontinence.
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Orthopedic Issues: Bone and joint problems due to muscle imbalances caused by the spinal defect. This can include issues like clubfoot, hip dislocation, and scoliosis.
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Hydrocephalus: Accumulation of excess cerebrospinal fluid in the brain, leading to an enlarged head (macrocephaly) and potential cognitive impairments.
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Chiari Malformation: Displacement of parts of the brain into the spinal canal, potentially causing headaches, neck pain, and neurological symptoms.
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Neurological Deficits: Depending on the location of the defect, children might experience varying degrees of weakness, numbness, or loss of function in the lower limbs.
What Treatments are Available for Spina Bifida in Children?
Once your child’s has been diagnosed with spina bifida, I (as a pediatric neurosurgeon in New York) will work with you, your child, and other medical professionals at Children's Hospital at Montefiore (CHAM) to formulate a customized treatment strategy tailored to your child’s needs. This customized treatment typically involves surgical intervention, but may utilize any one or a combination of the following interventions:
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Surgery: Surgical intervention is often required for infants with myelomeningocele, the most severe form of spina bifida. The goal of surgery is to close the opening in the spine and protect the exposed spinal cord and tissues. This is typically performed within the first few days or weeks of life. The surgical procedure may involve:
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Closing the opening in the spine with surrounding tissues or grafts.
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Repairing or covering the exposed spinal cord and meninges.
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Treating associated conditions, such as hydrocephalus (excess fluid in the brain) with a shunt to redirect cerebrospinal fluid.
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Intrauterine versus Postnatal Surgery: If diagnosed early and mother and fetus qualify for early correction of this congenital defect, prior to the birth of the child, a fetal surgery is designed to correct the maldevelopment to provide the best outcome for the child.
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Shunt Placement: Many children with myelomeningocele develop hydrocephalus, which requires the placement of a shunt. A shunt is a medical device that helps drain excess cerebrospinal fluid from the brain to another part of the body where it can be reabsorbed.
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Physical Therapy and Rehabilitation: Physical therapy and rehabilitation play a crucial role in managing spina bifida. These therapies help improve mobility, muscle strength, coordination, and overall functional abilities.
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Neurological Monitoring: Regular neurological assessments and monitoring are important to track the individual's neurological development and detect any potential complications.
