You may have seen, or heard, that some babies are born with a small hole in their skull, with part of their brain protruding. It's normal for any parent to be scared when they see this. Today we're going to talk about this condition called encephalocele. Don't worry, we'll talk about it in detail and simply.
What is Encephalocele?
Simply put, an encephalocele is a birth defect in which the bones of the baby's skull do not close properly, causing brain tissue to protrude through them. This can look like a small balloon protruding from the skull.
This condition is caused by a neural tube defect . Now you may be wondering what this neural tube is. It's very simple. After the baby is conceived in the womb, during the first few weeks, the baby's brain and spinal cord begin to develop in a tube-like structure. This is what we call the neural tube. If the top of this neural tube does not close properly, this condition called encephalocele occurs. This can sometimes be a minor condition, or it can be severe enough to be life-threatening.
What are the types of encephalocele?
Encephaloceles are classified according to where they form in the skull. They are mainly found in the following places:
- Occipital: At the back of the baby's head, near the neck. This is the most common type.
- Parietal: On the top of the head, towards the back.
- Frontoethmoidal (also called Sincipital): The baby's forehead is on the right side.
- Sphenoidal: Located inside the head, behind the eyes and in front of the ears. This may not be visible from the outside.
Furthermore, doctors divide this into two types, depending on whether it is in the front or back of the head:
- Anterior: The front of the baby's skull.
- Posterior: At the back of the baby's skull.
How common is this condition?
Encephalocele is a very rare condition. If you look at the statistics in a country like America, this condition occurs in about one in 10,500 babies born. That means about 375 babies per year. Although it is difficult to find exact statistics in Sri Lanka, this is considered a rare condition everywhere.
What does a baby with encephalocele look like?
If a newborn baby has an encephalocele, you can see a hole in their skull that hasn't completely closed. As a result, brain tissue is protruding through a hole in the skull like a sac covered with skin . It looks like a balloon is sticking out of the head. Depending on where the hole is, there may be hair-like growths on the sac.
This hole in the skull can occur anywhere on the head. However, it is most commonly seen on the forehead or at the back of the head, near the neck.
What are the symptoms of encephalocele?
The symptoms of this condition can vary from person to person. They depend on the size of the hole in the skull, its location, and how much of the brain is protruding. Some common symptoms include:
- Headache (especially in older children or if diagnosed later)
- Vision problems
- Muscle weakness in the limbs
- Head smaller than expected at birth
- Ataxia (unbalance when walking or moving)
- Facial deformities (especially around the forehead)
- Nasal congestion (if there is an encephalocele in the nose)
- Spinal fluid leakage from the nose or ear
Sometimes, symptoms can also be caused by a buildup of water-like fluid inside the brain (this is called hydrocephalus ).
What are the possible complications of encephalocele?
Some small encephaloceles may go away without major complications. However, in some cases, long-term complications may occur. These include:
- Developmental delays (e.g., delayed speaking, walking)
- Intellectual disability
- Vision problems
- Physical growth retardation
- Seizures
What are the causes of encephalocele?
Most often, encephalocele is a congenital condition. That is, it is something that occurs while the baby is still in the womb. However, very rarely, it can also occur later due to a head injury, a brain tumor, or other rare conditions such as idiopathic intracranial hypertension .
Congenital encephalocele occurs when the top of the neural tube, which was previously mentioned, does not close properly. This neural tube is the part of the tissue where the baby's brain and spinal cord first form. During the third or fourth week of pregnancy, it turns into a tube-like shape and needs to close properly. If this top does not close properly, the skull will not be fully formed. That's why part of the baby's brain comes out of this hole.
The exact cause of the neural tube not closing properly is not yet known, but research suggests that the following factors may play a role:
- Genetic changes (something that happens at the time of conception)
- Some infections that the mother contracts during pregnancy (e.g. Toxoplasmosis , Rubella , Cytomegalovirus , Herpes Simplex Virus )
- Some nervous system diseases (e.g. Type 3 Chiari Malformation)
Encephalocele can also be caused by certain other medical conditions. For example:
- Walker-Warburg Syndrome
- Knobloch Syndrome
- Roberts Syndrome
- Amniotic Band Syndrome
What are the risk factors for encephalocele?
If someone in your family has had a neural tube defect (NTD), you are slightly more likely to have one. Also, if you do not get enough folic acid (vitamin B9) before and during pregnancy, the risk of having a baby with a neural tube defect is higher.
How is encephalocele diagnosed?
In most cases, your doctor can detect this condition during a routine ultrasound scan during your pregnancy. If there is any doubt, your doctor may also recommend a prenatal MRI scan. This can provide more information about the condition.
This condition can be confirmed when the baby is examined after birth. In addition, blood tests and other scans are done to try to find out what is causing this and how it has affected the baby. Treatment is planned accordingly.
Can encephalocele go undiagnosed?
Yes, sometimes it can happen. Especially very small encephaloceles, those located on the baby's nose or forehead, can sometimes go undiagnosed. These small ones usually don't cause any major symptoms in the newborn baby, nor do they cause complications as they grow.
What are the treatments for encephalocele?
The main treatment for this condition is surgery to repair the skull and remove the protruding brain tissue. In most cases, the part of the brain that is protruding from the skull is not functional and can be removed. Sometimes, if the hole is small, the brain is put back inside the skull, and then the surgeon repairs the skull.
This surgery is usually done within a few days of birth, within the first few months, or within a year. It depends on the size of the encephalocele, its location, and how much it has affected the baby.
The important thing is that babies like this usually have to have more than one surgery. If they have facial deformities, they have to have surgery, and if they have hydrocephalus, they have to have surgery.
As your baby gets older, he or she may need additional help. For example:
- Special education programs at school
- If you have a seizure, take medicine for it.
- Glasses for vision problems
Are there any side effects of the treatment?
As with any surgery, there are some potential side effects. But don't worry, your baby's medical team is very trained. They will do their best to minimize these risks.
Some of the risks are:
- Infection
- Spinal fluid leak
- Bleeding
If the hole in the skull is large and a large part of the brain is involved, there is a higher risk of neurological problems. Before starting treatment, talk to your child's doctor about these side effects.
Can a baby with encephalocele survive?
Yes, babies with encephalocele can survive. Surgery to repair the skull can help them survive. However, babies with larger skull holes may have more symptoms and complications than babies with smaller holes. Therefore, they are more likely to have life-threatening or shortened life expectancy.
Research has found that babies with holes in the front of their skulls have better outcomes than babies with holes in the back.
How is the mortality rate?
According to data from organizations like the U.S. Centers for Disease Control and Prevention (CDC), the mortality rate for large encephaloceles is about 45%. That means the chance of survival is 55%. This risk increases depending on the size of the hole in the skull, its location, and the baby's overall health at birth.
Can encephalocele be prevented?
There is no specific way to prevent encephalocele. However, you can reduce the risk of having a baby with a neural tube defect. The most important thing to do is to get enough folic acid.
If you are planning to get pregnant, see your doctor for advice before you get pregnant. Your doctor may tell you to take 400 mcg (micrograms) of folic acid a day, even if you are not planning to get pregnant at that time. This is because neural tube defects (NTDs) occur in the first trimester of pregnancy. This means that you often don't even know you are pregnant. That is why it is important to take folic acid early on.
Additionally, if anyone in your family has had neural tube defects (NTDs), or if you have had a child with one before, tell your doctor. Your doctor can then help you prevent neural tube defects (NTDs) in the future.
When should you see a doctor?
If you're planning to get pregnant, talk to your doctor about preconception counseling . They can help you maintain good health to reduce your risk of having a baby with a birth defect.
What questions should you ask your doctor?
When you find out that your baby has encephalocele, it's normal to have a lot of questions. Don't be afraid to ask questions like these:
- Where is the hole in my baby's skull?
- Does my child need surgery?
- What are the side effects of the surgery?
- How should I take care of my child after the surgery?
- What complications should I watch out for?
- What do I do if my child is missing age-appropriate developmental milestones?
Having a baby with encephalocele is a very emotional journey. You may feel a lot of stress and helplessness, especially during the treatment of your baby. Your baby will need to stay in the hospital while he or she recovers from surgery. During this time, be surrounded by family and friends who can offer you support whenever you need it.
Many people find great comfort in talking to a mental health counselor , especially after the unexpected loss of a child. Complications from encephalocele can affect the child as they grow older. So, see your child's doctor regularly and keep an eye on his or her development and recovery.
An important message for you (Take-Home Message)
Although encephalocele is a scary condition, with early detection and proper treatment, many babies can survive successfully. The most important thing is to take folic acid before getting pregnant and follow your doctor's advice. If you have any questions about this, don't be afraid to talk to a doctor. Remember, you are not alone.
` Encephalocele, birth defects, neural tube defects, brain diseases, baby health, pregnancy health, folic acid
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