Myelomeningocele

Myelomeningocele, also known as spina bifida cystica, is a congenital defect of the central nervous system where the bones of the spine (vertebrae) do not properly form around the spinal cord. This condition occurs when the neural tube, which forms the brain and spinal cord during fetal development, fails to close completely.

Causes and Risk Factors

The exact cause of myelomeningocele is unknown, but it is believed to result from a combination of genetic and environmental factors. Risk factors include:

• Family history of spina bifida or other neural tube defects
• Poor diet, particularly a lack of folic acid during pregnancy
• Certain medical conditions, such as diabetes and obesity, in the mother
• Exposure to certain toxins or medications during pregnancy

Symptoms

The symptoms of myelomeningocele can vary depending on the severity of the condition and the location of the defect. Common symptoms include:

• A sac or cyst on the back that contains part of the spinal cord and nerves
• Weakness, paralysis, or loss of sensation in the legs
• Bowel and bladder problems, such as constipation or incontinence
• Hydrocephalus (fluid buildup in the brain)
• Chiari II malformation (a condition where the brain tissue extends into the spinal canal)

Diagnosis

Myelomeningocele is typically diagnosed prenatally through:

• Ultrasound: to visualize the fetus and detect any abnormalities
• Magnetic Resonance Imaging (MRI): to provide more detailed images of the fetus
• Maternal serum screening: to measure the levels of certain substances in the mother's blood that may indicate an increased risk of neural tube defects
• Amniocentesis: to analyze the fluid surrounding the fetus for genetic abnormalities

Treatment and Management

Treatment for myelomeningocele typically involves a multidisciplinary approach, including:

• Surgical repair of the defect, usually within the first few days of life
• Shunting to relieve hydrocephalus (if present)
• Physical therapy to improve mobility and strength
• Occupational therapy to develop daily living skills
• Bowel and bladder management to address any related problems

Prognosis and Complications

The prognosis for individuals with myelomeningocele varies depending on the severity of the condition. Potential complications include:

• Infection, such as meningitis or ventriculitis
• Shunt malfunction or failure
• Skin breakdown and pressure sores
• Latex allergy (due to repeated exposure during medical procedures)
• Cognitive and learning difficulties

Prevention

To reduce the risk of myelomeningocele, women who are planning to become pregnant should:

• Take a daily supplement containing 400-800 micrograms of folic acid
• Maintain a healthy diet and lifestyle
• Manage any underlying medical conditions
• Avoid exposure to toxins and certain medications during pregnancy

Frequently Asked Questions (FAQs)

What is Myelomeningocele?
Myelomeningocele is a type of spina bifida, a congenital defect where the spine and spinal cord do not properly form.

What are the symptoms of Myelomeningocele?
Symptoms may include paralysis, numbness, and loss of bladder and bowel control, depending on the location and severity of the defect.

How is Myelomeningocele diagnosed?
Diagnosis is typically made through prenatal ultrasound or after birth with physical examination, imaging tests such as MRI or CT scans, and sometimes amniocentesis.

What are the treatment options for Myelomeningocele?
Treatment usually involves surgical closure of the defect shortly after birth, and may also include management of related conditions such as hydrocephalus.

Can Myelomeningocele be prevented?
While some cases may be preventable with folic acid supplementation before conception, the exact cause is often unknown and prevention methods are not definitive.

What is the prognosis for individuals with Myelomeningocele?
Prognosis varies depending on the severity of the defect and effectiveness of treatment, with many individuals experiencing significant improvement in quality of life.

Are there different types of Myelomeningocele?
Myelomeningocele is a type of spina bifida cystica, and can be classified based on location and severity, but specific subtypes may vary.

How common is Myelomeningocele?
Myelomeningocele affects approximately 1 in 2,800 births in the United States, although prevalence may vary globally.

What are potential complications of Myelomeningocele?
Potential complications include hydrocephalus, Chiari II malformation, tethered cord syndrome, and infections such as meningitis.

Does Myelomeningocele affect intelligence or cognitive function?
While some individuals with Myelomeningocele may experience cognitive impairments, many have average to above-average intelligence, and outcomes can vary widely.