Contents
What is myelomeningocele?
Myelomeningocele (MMC) is the most serious type of spina bifida, a congenital malformation that affects the bones of the spine and the spinal cord.
Also known as “open spina bifida”, this condition causes an opening in the bones of the spine to form a pouch containing the meninges, nerves and cerebrospinal fluid on the baby’s back.
Right at the beginning of pregnancy, there is a structure called a neural plaque that, little by little, closes, giving rise to the neural tube. It is from this tube that the bones of the spine are formed.
Inside the bones of the spine, a channel called “spinal cord” passes. It is there that the nervous structures that allow the control of the whole body pass: the meninges (which protect the nervous channel), the cerebrospinal fluid and the nerves.
However, sometimes there is a problem that prevents this tube from closing completely, leading to a condition known as “spina bifida”. In this condition, some vertebrae in the spine are not completely closed, leaving a space through which the spinal cord contents come out, leaving it exposed.
The baby is then born with a protrusion on the back, filled with the contents of the spinal cord. This leads to serious neurological disorders, including paralysis of the lower limbs.
The condition has no cure , but the treatment guarantees a good quality of life for the patient. It can be found in the ICD-10 (International Classification of Diseases, 10th edition) by the code Q05.
What is the neural tube?
The embryonic structure that gives rise to the brain and spinal cord is called neural tube. It is from it that 3 areas of the brain are formed: rhomboencephalon, midbrain and forebrain.
All of these elements with a strange name will give rise to different brain structures, such as the cerebral hemispheres, the thalamus and the hypothalamus, for example.
The brain formation process is extremely complex and full of steps, the neural tube being just the beginning. Therefore, its correct development is essential for a good formation of the baby’s brain and spinal cord.
In the case of myelomeningocele, the problem already occurs in the closure of this tube, which initially was shaped like a plate.
Causes
It is not known exactly what causes the neural tube to not close completely. There are chances that there is a genetic factor, but it does not seem to be very strong: parents who have already had a child with myelomeningocele have a little less than 6% chance of having another child with the same malformation.
Although there is no evidence of any cause for myelomeningocele, it is known that the lack of folic acid in the mother’s diet increases the baby’s chances of developing neural tube malformations, which reveals an influence of this nutrient in the formation process of this structure.
Risk factors
The main risk factors for the development of myelomeningocele are:
Medication use
It is believed that the mother’s use of certain medications is related to problems in closing the neural tube in fetuses. Some examples are diabetes drugs and anticonvulsants.
Diabetes
Diabetic women who do not have good blood sugar control are more at risk of having a child with myelomeningocele.
Hyperthermia
It is not known exactly why, but the increase in body temperature is a risk factor for malformation. If the mother has had a fever or participated in a sauna in the first 4 weeks of pregnancy, the increase in body temperature may influence the formation of the neural tube.
Obesity
Studies show that preconception obesity is associated with an increased risk of defective development in the neural tube, including myelomeningocele.
Family history
Although it is not that common, having a family history of spina bifida slightly increases the chances of having a baby with myelomeningocele.
Ethnicity
Birth defects are more common in Caucasians and Hispanics than in blacks.
Myelomeningocele and meningocele: what is the difference?
The two conditions originate in the same way, the only difference being the content of the bag that forms on the baby’s back, that is, what comes out of the spinal canal.
In meningocele, only the meninges – membranes that surround and protect nervous tissue – leave the spinal canal, while in myelomeningocele, the nerves also exit through the opening in the spine.
Precisely for this reason, meningocele is less severe than myelomeningocele, and does not cause so many limitations.
There is also a hidden spina bifida, in which no part of the spinal canal passes through the opening in the spine. Most of the time, these cases are asymptomatic, and do not involve neurological difficulties.
Symptoms
Symptoms tend to vary in each case, depending on the part of the spine where the nerves overflow. The main symptoms are:
Spine protrusion
The leakage of the contents of the spinal cord through the opening of the vertebrae leads to the formation of a skin pouch on the baby’s back.
Total or partial paralysis
Peripheral nerves – those that descend through the spinal canal – are directly responsible for the body’s movements. Therefore, depending on which vertebrae have been affected, the child may lose the movement of the legs, arms and torso.
The further up the malformation, the larger the affected area. That is, a child with myelomeningocele in the thoracic vertebrae (trunk region) will have more paralyzed parts than one who had a malformation in the sacral vertebrae (butt region).
In addition, paralysis may be only partial, characterized by muscle weakness that does not allow for typical motor development.
Hydrocephalus
The vast majority of babies with myelomeningocele also develop hydrocephalus , a condition popularly known as “water in the brain”.
Under normal conditions, the brain has a certain amount of fluid that keeps it healthy, called cerebrospinal fluid. This liquid helps protect nerve tissues and normally goes down through the spinal canal to be absorbed by the body.
In the case of children with myelomeningocele, there is an enlargement of the foramen magnum – the “hole” at the base of the skull, through which the spinal cord passes towards the spine -, which causes the brain to become lower, plugging the hole whole.
In this way, cerebrospinal fluid is unable to descend through the spinal cord and is not reabsorbed by the body, accumulating inside the brain and skull.
Loss of sensitivity
For the same reason that paralysis occurs, the baby may also experience loss of sensation, especially in the lower limbs. This is because nerves are the structures responsible for feeling stimuli, both external and internal.
Neurogenic bladder
Nerve damage can alter the way the bladder behaves. Thus, the child may suffer from urinary incontinence or urinary retention , as there is no control over the sphincters.
Neurogenic intestine
Just as the bladder is affected, the intestines also suffer from a lack of sphincter control. Thus, the child may have constipation ( constipation ) or fecal incontinence .
Crooked foot
Due to muscle imbalances and the misuse of the muscles of the lower limbs, the tendons and ligaments of the feet can undergo changes that cause the feet to bend. In this way, the feet look similar to golf clubs.
Delays in cognitive development
Because of hydrocephalus and the increased risks of meningitis , the brain can be affected resulting in problems in cognitive development, in addition to seizures .
About 75% of affected children have an intelligence coefficient equal to or greater than 80, that is, slightly below the average (from 110 to 120). The presence of hydrocephalus does not alter these statistics.
The truth is that most children born with myelomeningocele will have some learning problem, but it will not be so severe.
Síndrome de Arnold-Chiari ou Chiari type 2
Not infrequently, babies with myelomeningocele also have another malformation called Chiari type 2.
In this condition, the posterior structures (back) of the brain are pulled downwards towards the foramen magnum, which in turn is wider than normal.
That is why hydrocephalus: when the brain “closes” this hole, there is no way for cerebrospinal fluid to pass into the spinal canal, accumulating in the brain itself.
Complications: how does myelomeningocele affect life?
Traumatic birth
For the mother, the birth of the baby with myelomeningocele can be traumatic, especially if she was unaware of the malformation until then.
In some cases, a cesarean delivery may be necessary in order to avoid the risk of further damaging the spinal cord by passing through the vaginal canal, as is done in normal delivery.
However, it is not uncommon for a safe normal delivery to be possible, especially when the spinal injury is small.
Need for orthoses or wheelchairs
Depending on the extent of the loss of mobility, the patient with myelomeningocele may depend on orthoses or a wheelchair throughout his life.
Column deformations
In addition to the opening in the vertebrae, children with myelomeningocele are also at risk for the development of spinal deformations. Thus, the chances of acquiring problems such as scoliosis , kyphosis and lordosis are increased.
Frequent urinary infections
Children who suffer from neurogenic bladder may have urinary retention, which creates an environment conducive to urinary infections.
Meningitis
Meningitis is a bacterial infection in the meninges, the protective membranes of the nervous system. As the baby is born with exposed meninges, without the protection of the spine and, often, not even the skin, the risk of contracting an infection in this area is great, especially during the surgical procedure of closing the spine.
Latex allergy
Patients with myelomeningocele live in contact with gloves, catheters and other hospital instruments made of latex. With all this exposure, about 70% of myelomeningocele patients also develop latex allergy .
Other infections
Due to catheters and other medical procedures, the individual may come into contact with microorganisms that cause several other types of infection.
How is myelomeningocele diagnosed?
When the mother does prenatal care, the diagnosis is made with the baby still in the womb. Otherwise, the problem can be diagnosed at the time of delivery.
The specialists who take care of the whole process of pregnancy and childbirth are the gynecologist and obstetrician .
The tests that allow the diagnosis of myelomeningocele are:
Ultrasound
During prenatal care, the mother undergoes an ultrasound examination several times. During this examination, which uses sound waves to create images of the baby while still in the womb, an abnormality may be noted in the spine of the fetus, indicating the possibility of myelomeningocele spina bifida.
Measurement of alpha-fetoprotein
Alpha-fetoprotein is a substance found in large quantities when the baby has malformations of the neural tube. In this way, doctors can request a measurement of this substance to confirm the diagnosis.
For this, you can perform a blood test or an amniocentesis (taking a sample of the amniotic fluid, often more accurate than blood samples).
However, these tests are not always highly accurate in diagnosing myelomeningocele, especially since finding alpha-fetoprotein in large quantities only means that there are malformations in the neural tube, but not necessarily that it is an open spina bifida.
Postnatal diagnosis
After birth, a quick physical examination can give the diagnosis: the obstetrician is able to recognize the bulge in the baby’s spine, and can give the diagnosis on the spot.
Sometimes, however, it is not clear whether the child was born with meningocele or myelomeningocele, so the doctor may order an image exam ( X-ray , CT scan or MRI) of the baby’s spine.
Are myelomeningocele afraid of the cure?
Unfortunately, myelomeningocele has no cure . Since it is a malformation, there is no way to recover nerve damage.
Treatment
As soon as the baby is born and the condition is diagnosed, treatment should be started to prevent further complications. Treatment includes:
Correction surgery
In the first 48 hours after birth, the baby is taken for spinal cord correction surgery. In this operation, surgeons close the spine, keeping the nerves protected in the spinal canal.
The procedure does not cure the problem , as the nerves remain damaged. However, correcting the spine prevents them from coming out of the opening again and prevents serious infections such as meningitis.
Derivative surgery
As most babies with myelomeningocele also have hydrocephalus, a surgical procedure is required to drain cerebrospinal fluid from the brain.
In bypass surgery, a small tube with a valve is placed in the patient’s brain. This tube drains the accumulated liquid to some other part of the body, such as the abdomen and the heart, where the absorption of the liquid into the blood stream is facilitated.
Cirurgia intrauterina (fetal)
When the diagnosis of myelomeningocele is made while the fetus is still in the uterus, there is the possibility of surgery for intrauterine correction.
In these cases, the procedure is performed close to 24 weeks of gestation and has some advantages, such as reducing the incidence of Arnold-Chiari syndrome 2.
However, there are risks: the woman may go into premature labor or there may be a premature rupture of the membranes, so the entire procedure must be closely monitored by specialists from different areas.
Famous photograph
Have you ever seen that photo of a surgery in which a small hand comes out of the belly of the future mom and tries to grab the finger of the surgeon? Well, this image was photographed during surgery to correct myelomeningocele, by hospital photographer Michael Clancy.
With the spread of the image all over the world, she was linked to campaigns against the legalization of abortion, and many are unaware that, in reality, it was a mother trying to save her son’s life – or at least give a life with better quality for him.
The baby in the photograph was born on December 28, 1992 and was named Samuel Alexander. On the day of the photo, he was only 4 months pregnant .
Orthoses and wheelchair
Depending on where the nerve injury occurred, treatment may be different:
Thoracic level
When the affected vertebrae are the thoracic ones, the patient generally does not present sensitivity or mobility below the hips, characterizing a total paralysis.
Generally, patients with this type of injury use wheelchairs to move around and can stand with a reciprocal orthosis, which provides stability in the legs and hips.
High lumbar level
At this level, the patient still has some strength and sensitivity in the hip and leg muscles, being able to control the trunk normally.
The orthoses used in this type of injury are:
- Reciprocation orthosis: Has a hips reciprocation system. When the patient extends one hip, the orthosis causes the other to flex automatically, allowing one leg to pass in front of the other and walking to be possible;
- Inguino-pediatric orthosis with pelvic belt: This type of orthosis seeks to assist the movement of the knees through the movement of the hips.
Low lumbar level
In the lower lumbar vertebrae, the damage is less: there is some strength in the legs, feet and hips. The patient may need an inguino-pediatric orthosis or one below the knees to help move the legs.
Sacral level
When the lesion reaches the sacral vertebrae (the last vertebrae before the tailbone), the patient has strength in the hips, legs, feet and toes. To walk, he may only need an ankle and foot orthosis.
Physiotherapy
Physiotherapy stimulates the patient’s motor development and should be started as soon as possible to prevent muscle shortening, which happens when a muscle is not used much.
It is through physical therapy that the patient learns to walk (in cases where this is possible) with his orthoses and starts to have autonomy to deal with various daily tasks.
Catheterization
When the patient is unable to urinate or evacuate, frequent catheterization is necessary to empty the bladder and intestines.
In the case of urine , a catheterization can be done via the urethra , the channel through which the urine exits, or via the stoma , in which a channel is surgically created between the bladder and an orifice at the level of the belly, through which the urine is removed.
For the intestine , a canal is created, similar to catheterization via the stoma, which connects the ascending colon (part of the large intestine) to the opening. Contrary to what happens with urine, feces are not removed by the stoma, but a liquid is introduced to make an intestinal wash .
This liquid passes through the entire large intestine and exits through the anus, making a complete cleaning of the entire organ. The process takes about 30 minutes and the time interval between each wash must be defined according to medical advice.
Prognosis
The prognosis of myelomeningocele varies widely from case to case. This is because it depends on the location of the spine where the injury occurred. However, it can be ensured that patients with MMC can live for a long time and lead a quality and meaningful life.
During childhood, mobility difficulties and constant needs to go to the hospital can hinder typical development, but there are alternatives that can help in this regard (see the subsection “Rights of the person with myelomeningocele” in “Living together”).
Living together
Living with limitations is not easy and requires adaptations. In the case of myelomeningocele, parents should pay attention to the food, socialization, learning and the rights that the individual with this disease has. Understand:
food
Patients with myelomeningocele are more likely to develop obesity because of the sedentary lifestyle that the disease causes. Therefore, the diet must be balanced and healthy, avoiding weight gain.
The ideal dish consists of vitamins , minerals, carbohydrates , proteins , fats, fibers and water. All of this in the right measure:
Vegetables and salads are great sources of vitamins, minerals and fiber, and should occupy half of the plate. Meats, on the other hand, are responsible for protein, which should occupy only ⅓ (one third) of the dish. Carbohydrates are found in rice, pasta and potatoes, and should occupy the other third of the dish.
For dessert, dairy and sweet compounds provide the necessary fat, while fruits, grains, nuts and almonds are sources of fiber. Oh, and you shouldn’t forget about water: staying hydrated is important for all body functions!
Some tips for eating healthily are:
- Eating 5 smaller meals a day (instead of 3 large meals) and avoiding eating between them is a great idea to not increase your caloric gain too much. The child should eat for breakfast, snack, lunch, afternoon snack and dinner;
- A colorful dish is the guarantee that it is full of vitamins and minerals: try to diversify salads and vegetables enough so that there is an adequate amount of these nutrients in the meal;
- Fiber-rich foods are best for satiating hunger and helping your bowel function. Prefer meals with whole grains, cereals in general, vegetables and fruits;
- Little food should be placed on the plate to avoid waste. If necessary, the child can serve himself again after 15 minutes in a reduced amount;
- The consumption of greens and vegetables on a daily basis is beneficial for health, but they should preferably be seasoned with lemon, vinegar, little salt and little olive oil;
- To quench your thirst, the best alternative is water! Avoid the consumption of sugary drinks such as sodas and soft drinks;
- Instead of juices, prefer to consume the whole fruit or in pieces, as it contains more fiber;
- Cut out of the diet sweet cookies (stuffed, chocolaty and buttery), candies and chocolates;
- Limit the intake of fats, fried foods, fast food , among others. Consume this type of food at most once a week;
- Prefer the sweetener instead of sugar whenever possible, as these are not metabolized by the body and are not transformed into calories;
- Prefer low-fat sauces, such as tomato sauce. Avoid fatty sauces such as cheese, white sauce, among others;
- Restrict the use of margarine, butter, fatty meats, sour cream and creamy sauces;
- When using milk, prefer skimmed or semi-skimmed versions.
Socialization
The socialization process begins in the family, and the parents are the first ones the child can count on. For this reason, it is important that they give a lap when the child needs it, but also say “no” when there is a morning or tantrum.
Many parents feel bad about saying no to their children because they think life has been too cruel for them because they were born with a special need. However, it is important that she is educated in the same way that healthy children are, as everyone needs to have limits.
In addition, parents should not take all of the child’s tasks for themselves. On the contrary, they should encourage him to try to perform tasks on his own, because often the child’s disability is, in fact, an imaginary disability that the parents imposed from an early age.
Many children fail to learn to feed themselves because their parents are always there, when in fact they are perfectly capable of doing so.
It is important that parents and the child themselves have knowledge of how to administer catheterizations, if applicable. This will give more autonomy for the child to develop.
Equipment such as wheelchairs and orthoses also deserve attention: they must always be clean and in good condition. Depending on the case, children can learn to manage them themselves, ensuring more independence for them.
Support network
A support network is a group of people and institutions that work together for the same purpose, that is, the support and well-being of the child. Each member helps and complements each other’s work, offering the child the welcome, attention, encouragement, support and protection that he needs.
This support network is formed by parents, relatives, neighbors, colleagues, school, hospital, health professionals, among others. Some actions these people can take to help a child with myelomeningocele are:
- Help in care;
- Promote parties or include it in existing parties;
- Organize leisure afternoons;
- To talk;
- Give attention, welcome and recognition etc.
All of these actions help the child to grow up as a citizen who knows that he is not alone, that there are people who care for him and want to see him well.
For a healthy socialization, the child must feel part of a group, and it is these actions that will help him / her in this regard!
At school
Children with myelomeningocele may have learning difficulties due to neurological sequelae that compromise cognition. Therefore, it may be necessary for teachers and educators to be prepared to deal with this type of situation.
Frequent trips to hospitals can disrupt the child’s school year, which will often need to be missed. This must be justified at school and can bring emotional difficulties to the child, who may experience sadness, isolation, discouragement, impatience, anger , among others.
Rights of the person with myelomeningocele
All rights that apply to any person, also apply in the case of myelomeningocele. There are, however, some that differ. Understand:
Right to health
All human beings have a right to health. In Brazil, this can be done by attending the Unified Health System (SUS), which guarantees the right to comprehensive health care.
Medical follow-up by SUS is carried out with the various specialties (urologists, neurologists, orthopedists, etc.) and includes surgeries, rehabilitation and the provision of support materials.
In this way, the child will have the necessary support to make the most of his health.
Right to education
The Brazilian Constitution defends the right of inclusion of students with special educational needs in regular education.
In this way, the child with myelomeningocele has the right to study in regular schools and, in cases of frequent hospitalizations, there are hospital teachers who develop educational activities and do not let them go without studying.
If the child leaves the hospital but is still unable to attend classes at school, parents can request Pedagogical Home Care.
Right to the Continuous Installment Benefit (BPC)
BCP is a benefit that guarantees the payment of a monthly minimum wage for people with disabilities that meet certain criteria, which can be checked on the Social Security website .
To apply for the benefit, the patient must gather the following documents:
- Patient documents: RG, CPF, birth certificate;
- Family members’ documents: RG, CPF, birth or marriage certificate;
- Updated proof of residence and income;
- In the case of custody or guardianship, take the document issued by the Child Court of the region;
- Medical report with the CID (number of the International Classification of Diseases), issued in the last 30 days.
Appointments must be made by calling 135 or in person at an INSS unit.
How to prevent myelomeningocele?
It is difficult to define a prevention for myelomeningocele because its cause is not known exactly. However, some measures can be taken based on your risk factors. Are they:
Folic acid supplementation
Folic acid decreases the chances of a neural tube malformation. Therefore, it is recommended that women of reproductive age consume about 0.4mg of folic acid per day. Pregnant women, on the other hand, benefit more when they take a 1mg supplement a day.
Foods rich in folic acid
Folic acid is naturally present in several foods and is a good alternative for pregnant women who do not have access to supplements of this nutrient. Are they:
- Spinach;
- Cabbage;
- Neighbor;
- Lettuce (mustard and romano);
- Asparagus;
- Broccoli;
- Papaya;
- Orange;
- Grapefruit;
- Strawberry;
- Raspberry;
- Bean;
- Pea;
- Lentil;
- Chickpea;
- Avocado;
- Okra;
- Brussels sprouts;
- Sunflower seed;
- Peanut;
- Flax seed;
- Almonds;
- Cauliflower;
- Beetroot;
- Corn;
- Celery;
- Carrot;
- Pumpkin.
Avoid certain medications
Diabetes medications and anticonvulsants should be avoided during pregnancy and by women who are trying to conceive.
Prevent infections
Several infections have consequences for the fetus, but, especially in cases of fever, a malformation of the neural tube is possible. Thus, always washing your hands with soap and running water, washing your food well and avoiding contaminated surfaces are great strategies to avoid the problem.
Avoid saunas and overheating
For the same reason that fever should be avoided, taking time out in saunas and in physical activities that overheat the body help prevent malformations of the neural tube.
Congenital malformations can be a shock to new parents, but many of them can be treated and, in the end, the child can lead a quality life. This is the case of myelomeningocele.
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