Encephalocele: Rare birth defect (prognosis)


Rare birth defect, theencephalocele results from incomplete closure of the neural tube. Its severity varies depending on the size, its exact location. The same is true for prognosis. Details in this article.

What is encephalocele?

THEencephalocele refers to the exteriorization of the tissue covering the brain and part of the brain itself outside the skull. It is a rare disease that occurs before birth (congenital).

As a reminder, the brain and the spinal cord are formed during third and fourth weeks of pregnancy. They are formed from neural tube. Encephalocele usually occurs when the neural tube does not close completely. This can cause a sac-like bulge with some brain tissue and cerebrospinal fluid which crosses the skull.

An encephalocele can be life-threatening for the baby. Its severity and the baby's chances of survival depend on its position on the skull. Babies who suffer from it often have chromosomal problems, cerebral and facial. Treatment options and physical and mental development also differ from case to case.

Most encephaloceles are located in the occipital and frontonasal regions. Other locations are possible, such as the lower back. We then speak of spina bifida.

Occipital encephalocele (at the back of the head)

It is the most common type of encephalocele. It particularly affects girls. It causes various problems such as developmental delay, vision problems, balance and coordination problems, hydrocephalus (fluid on the brain) and seizures.

Frontonasal encephalocele (between nose and forehead)

THEencephalocele frontonasal is more common in boys. The chances of survival for babies with frontonasal encephaloceles are generally good. These babies have risk of neurological problems, but these are less severe than for occipital encephalocele.

What is the cause of encephalocele?

Although scientists do not know what causes encephaloceles, there are several known risk factors that cause this abnormality.

For example, women who eat a lot offoods containing folic acid (vitamin B9) when pregnant are less likely to have a baby with this condition. Certain types of encephaloceles are also more common in women with diabetes.

A certain number of genetic syndromes are also associated with encephalocele.

There is also evidence that theexposure to toxic chemicals, including certain medications, may increase the risk of having a baby with encephalocele.

What are the symptoms and clinical manifestations of encephalocele?

It is sometimes difficult to detect encephalocele before the baby is born. In the majority of cases, the symptoms only appear later in childhood, once the child begins to have physical or mental retardation.

The signs of encephalocele are multiple and can include:

  • an accumulation of fluid in the brain (called hydrocephalus);
  • loss of strength in the arms and legs;
  • a small head;
  • awkward movement of muscles, such as those used for walking and moving;
  • stunted growth and development;
  • vision problems;
  • problems with breathing, heart rate and swallowing;
  • seizures.

How to make the diagnosis of encephalocele?

When a woman is pregnant, there are a few tests (called prenatal tests) that can help doctors determine if her baby has encephalocele.

The encephalocele is usually found on prenatal ultrasound. If the doctor suspects that the baby may have encephalocele, the mother takes further tests. The goal is to provide as much information as possible to help the patient and the doctor prepare for what may happen when the child is born.

These tests include:

  • a fetal MRI scan (magnetic resonance imaging): non-invasive imaging test to get a clearer, more detailed picture of the baby's organs, especially the brain;
  • a fetal echocardiogram: A special ultrasound used by a pediatric cardiologist (cardiologist) to take a close look at the baby's heart and surrounding blood vessels.

How is encephalocele treated?

In most cases, the encephalocele treatment involves surgery. This aims to put back in place the part of the brain located outside the skull, to close the opening and to correct the defects apparent on the face. A shunt may also be needed to drain cerebrospinal fluid (CSF) around the brain.

Neurosurgeons can often repair large encephaloceles without the baby losing further function.

Of course, since this is a treatment for babies, all treatments are adapted to their needs. It is possible that he will be evaluated by different experts:

  • in craniofacial;
  • in plastic surgery;
  • in ophthalmology;
  • in endocrinology;
  • in neurosurgery.

Usually, neurosurgeons repair encephaloceles within the first few months of life. In case there is skin covering the baby's encephalocele, giving it some protection, the neurosurgeon may recommend waiting a few months. On the other hand, if there is no skin protecting encephalocele, the doctor may order surgery shortly after birth.

In more complex cases, babies may experience several step-by-step surgeries. They may need delayed surgery until they are older, which makes surgery safer and easier.

What about the prognosis of encephalocele?

The chances of the affected baby recovering depend mainly on the type and exact location of the encephalocele. It is also important to perform the corrective surgery in time, particularly in order to avoid developmental delay.

After any surgery, the baby will need regular follow-up visits with the medical team to assess their growth, development and nutrition. Parents will need to find a pediatrician to take care of routine examinations and vaccinations.

The baby also needs to follow up with the neurologist and neurochirurgien.

Care for children born with encephalocele focuses on problem prevention and l'improving their abilities physical and mental. To facilitate recovery, the physiotherapy (physiotherapy) and occupational therapy can be of great help in minimizing mental and physical handicaps.



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