What is Myelomeningocele?
Myelomeningocele is a severe form of spina bifida, a congenital neural tube defect that occurs when the spine and spinal cord do not form properly. It is a type of birth defect where a portion of the spinal cord and its meninges protrude through an opening in the spine, often leading to severe physical disabilities.
What Causes Myelomeningocele?
The exact cause of myelomeningocele is unknown, but it is believed to result from a combination of genetic and environmental factors. Insufficient intake of
folic acid before and during early pregnancy significantly increases the risk. Other potential risk factors include maternal diabetes, obesity, and certain medications.
How is Myelomeningocele Diagnosed?
Myelomeningocele is typically diagnosed during pregnancy through prenatal screening methods such as
ultrasound and maternal serum alpha-fetoprotein (MSAFP) tests. If these tests indicate a potential issue, a more detailed fetal MRI or amniocentesis may be performed for confirmation.
What are the Symptoms?
The symptoms of myelomeningocele can range from mild to severe, depending on the location and extent of the spinal defect. Common symptoms include:
- Visible protrusion on the back
- Muscle weakness or paralysis in the lower limbs
-
Hydrocephalus (accumulation of fluid in the brain)
- Bowel and bladder dysfunction
- Orthopedic abnormalities such as clubfoot
What are the Treatment Options?
Treatment for myelomeningocele often involves a combination of surgical and non-surgical approaches. Immediate surgical intervention may be necessary to close the spinal defect and prevent infection. Post-surgical care includes managing complications like hydrocephalus through
ventriculoperitoneal shunt placement. Long-term care may involve physical therapy, orthopedic interventions, and urological management.
Can Myelomeningocele be Prevented?
While not all cases of myelomeningocele can be prevented, the risk can be significantly reduced by ensuring adequate intake of folic acid before conception and during the first trimester of pregnancy. Women planning to become pregnant are advised to take a daily supplement containing at least 400 micrograms of folic acid.
What is the Prognosis?
The prognosis for infants with myelomeningocele varies widely based on the severity of the condition and the effectiveness of the interventions. Early surgical repair and comprehensive multidisciplinary care can significantly improve the quality of life. However, lifelong medical and supportive care is often necessary to manage the associated complications.
What are the Complications?
Complications associated with myelomeningocele can be numerous and may include:
-
Chiari malformation (brain tissue extends into the spinal canal)
- Tethered cord syndrome
- Recurrent urinary tract infections
- Learning disabilities
- Skin issues due to immobility
How Can Families Cope?
Families dealing with myelomeningocele can benefit from support groups, counseling, and educational resources. Early intervention programs and special education services can aid in the child's development. Connecting with other families facing similar challenges can provide emotional support and practical advice.
