The myelomeningocele is a severe form of spina bifida, a birth defect that affects the spine and spinal cord. A neural tube, which forms the brain and spinal cord, does not close properly during the first month of pregnancy, resulting in the condition. As a result, the baby's back is covered with a sac-like protrusion that contains the spinal cord, nerves, and cerebrospinal fluid. This blog post discusses the causes, symptoms, diagnosis, treatment, and prevention of myelomeningocele, which can cause nerve damage, hydrocephalus, and Chiari malformation.
There is no exact cause of myelomeningocele, but it is likely caused by a combination of genetics and environmental factors.
A family history of neural tube defects or spina bifida
Having mutations in genes such as JAK2, CALR, or MPL
Folic acid deficiency, a vitamin essential to neural tube development
Diabetes, obesity, or other metabolic conditions
Taking certain medications that interfere with folic acid absorption, such as anticonvulsants
Radiation, chemicals, or toxins that are harmful to the developing fetus
Pregnant women who smoke, drink alcohol, or use drugs
The main symptom of myelomeningocele is a visible sac on the baby’s back, usually in the lower or middle part of the spine. The sac may be covered by skin or may be open and exposed. The symptoms can vary in severity and size depending on where and how large the sac is.
Leg weakness or paralysis
Lower body numbness or loss of sensation
Problems with the bladder and bowels, such as incontinence and constipation
Increased pressure and swelling are caused by hydrocephalus, a condition in which excess fluid builds up in the brain
As a result of Chiari malformation, the lower part of the brain pushes into the spinal canal, causing headaches, neck pain, and breathing difficulties
Problems with learning, cognition, or behavior
Problems with the skin, such as ulcers, infections, or allergies
Some of the tests that can help detect myelomeningocele include:
The maternal blood test measures alpha-fetoprotein (AFP), a protein produced by the fetus, which may indicate a neural tube defect.
This test uses sound waves to produce images of the fetus and the placenta, revealing the presence and size of the sac and the extent of spinal cord involvement.
An amniocentesis tests the amniotic fluid surrounding the fetus for chromosomal abnormalities, gene mutations, and infections that may cause myelomeningocele.
A fetal magnetic resonance imaging (MRI) can provide more information about the anatomy and function of the spinal cord and brain of the fetus.
Treatment options for myelomeningocele depend on the severity of the condition and the parents' preference.
Usually between 19 and 26 weeks of gestation, prenatal surgery involves opening the mother's abdomen and uterus and closing the sac and the spinal cord defect before the baby is born. Aside from reducing the risk of hydrocephalus, Chiari malformation, and nerve damage, surgery also carries some risks, including premature delivery, infection, and bleeding.
A postnatal surgery is one that takes place after a baby is born, usually within the first few days. It involves removing the sac and repairing the spinal cord defect. It may prevent further damage to the spinal cord and nerves, but it does not reverse the existing damage or cure it.
Shunt placement: This procedure is performed to treat hydrocephalus. It involves inserting a tube (shunt) into the brain to drain the excess fluid and relieve the pressure. Over time, the shunt may need to be replaced or adjusted, and it may cause complications, such as infection, blockage, or malfunction.
A medication is a drug that is used to treat symptoms of myelomeningocele, such as pain, infection, inflammation, or spasticity. Some medications include antibiotics, anti-inflammatory drugs, muscle relaxants, or anticonvulsants.
The goal of physical therapy is to improve strength, mobility, and function of the muscles and joints. It can also help prevent or reduce contractures, deformities, and atrophy of the limbs.
Occupational therapy involves training and assistance with daily tasks and activities, such as dressing, eating, and writing, enhancing the child's independence and quality of life.
In addition to supporting or correcting the position of the limbs, spine, or head, braces and orthotics help prevent or reduce scoliosis, kyphosis, and other spinal deformities, as well as improving posture and balance.
Devices that assist a child's mobility or communication, such as wheelchairs, crutches, walkers, or speech devices, can assist the child in moving around and interacting with others more easily.
While there is no guaranteed way to prevent myelomeningocele, some measures may reduce the risk. These include:
As recommended by your doctor, take folic acid supplements before and during pregnancy. Folic acid is an essential vitamin for neural tube development and the prevention of neural tube defects. The recommended dose for most women is 400 micrograms per day, and 4 milligrams per day for women at a higher risk of having a child with a neural tube defect.
Including foods rich in folic acid in your diet, such as leafy green vegetables, citrus fruits, beans, nuts, and fortified cereals.
Smoking, drinking alcohol, and using drugs during pregnancy can harm the fetus and increase the risk of birth defects.
Radiation, chemicals, or toxins that can damage the fetus should be avoided.
Before taking any medications, supplements, or herbal remedies during pregnancy, consult your doctor since some of these products may interfere with folic acid absorption.
Monitoring the fetus' health and development and detecting any abnormalities or complications during prenatal care.
