Encephalocele is a rare type of birth defect in which the tubular structure found in the fetus, called the neural tube, is affected. The neural tube is a narrow channel that folds and closes to form the brain and spinal cord during the third and fourth weeks of pregnancy. Encephalocele is one of a group of diseases known as neural tube defects that occur when the neural tube does not completely close during pregnancy. Neural tube defects can occur anywhere along the head, neck, or spine. This condition, which is present at birth, gets the name encephalocele when it forms in the skull. Encephalocele is a rare condition that is estimated to occur in one out of every 4000 live births. Although the exact cause is unknown, it is highly likely that it is caused by a combination of various environmental and hereditary factors.
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What is encephalocele?
What are the causes of encephalocele?
What are the symptoms of encephalocele?
What are the types of encephalocele?
How is encephalocele diagnosed?
How is encephalocele treatment performed?
What is encephalocele?
Encephalocele is a sac-shaped hernia of brain tissue through an opening in the skull. In some cases, cerebrospinal fluid or the membranes covering the brain (meninges) may also protrude from this cavity. If the herniated structure contains brain tissue and membranes together, it is called meningoencephalocele. More rarely, only the brain membranes protrude, and in this case the herniated structure is called a meningocele. It is believed that the defect is caused by meningocele, in which only the membranes of the brain become marsupial, and the brain has a cranial defect (e.g. it needs to be distinguished from extracranial brain herniation, in which it herniated during trauma or after surgery). A condition in which the brain and spinal cord tissue marsupialize together is called encephalomyelocele. The part of the brain that hangs out of the skull is usually covered with skin or a thin membrane, and the defect resembles a small sac.
The hernia can be along the center of the skull, from the nose to the back of the neck. But it most often occurs on the back of the head near the neck, on the top of the Decapitation or between the forehead and the nose. Encephaloceles are large and significant birth defects that are most often diagnosed before birth. However, in very rare cases, their size may be small and may not be noticed before childbirth.
What are the causes of encephalocele?
Although the exact cause of encephalocele is unknown, it is estimated that many factors play a role in its development together. It has a genetic (hereditary) component, because it is more common in families with a history of spina bifida and anencephaly, which are usually other defects of the neural tube. In such cases, individuals may have a genetic predisposition to the development of any type of neural tube defect.
Some researchers also believe that exposure to certain environmental factors during or before pregnancy can also cause encephalocele. However, there is not enough evidence on this issue yet and more research is needed. There are some studies that increase the risk of neural tube defects in the babies of expectant mothers, especially those with folic acid deficiency during pregnancy and before. For this reason, women who are planning to get pregnant or are pregnant should eat a healthy diet rich in folic acid or take folic acid supplements. During pregnancy, folic acid supplementation can reduce the number of babies born with a neural tube defect.
What are the symptoms of encephalocele?
The symptoms of encephalocele vary from one person to another depending on many different factors, such as the size of the tissue protruding from the skull, its location, and the amount and type of brain tissue it contains. In particular, the location of the hernia in the head is very important, because there are significant clinical differences in treatment and progression in anterior and posterior encephaloceles. Encephalocele cases located at the back of the head are more likely to cause problems in the brain, as well as other nervous system and facial disorders. Encephaloceles located towards the front of the skull, on the other hand, usually do not contain brain tissue and have a better course. Symptoms of encephalocele may include:
Hydrocephalus: a condition in which an excessive amount of cerebrospinal fluid accumulates in the brain. Excess fluid can put pressure on the brain, causing irreversible damage.
Spastic paraplegia: In some cases, progressive weakness and loss of strength in the arms and legs may occur due to increased November muscle tone and stiffness.
Microcephaly: An unusually small head
Ataxia: Impaired coordination in the muscles needed for motor movements such as walking, lying down November
Developmental delay
Mental disability
Vision problems
Delayed growth
Epileptic seizures
However, it is important to know that not all affected individuals have the symptoms listed above, and that some children have normal intelligence, while others experience intellectual disabilities. Therefore, for the most accurate information, parents should talk to the pediatrician and medical team about their specific conditions, related findings, and the general course of the disease.
In some cases, encephalocele occurs in combination with other neurological conditions, such as Dandy-Walker malformation or Chiari malformation. Dandy-Walker malformation is characterized by the partial or complete absence of a specific part of the brain and enlargement of one of the brain cavities. Chiari malformation, on the other hand, is a condition in which the cerebellum is displaced downwards from the opening called the formen magnum at the base of the skull
What are the types of encephalocele?
There are numerous classification systems for encephalocele, which often concern only the relevant specialties. A similar terminology with different meanings is often used in classifications. In most epidemiological studies, classification is made using the names of bones in the area of herniation in the skull, such as frontal (forehead bone), parietal (forming the upper and side of the skull), occipital (bone in the lower back of the skull) and sphenoidal (located at the base of the skull). Herniation most often develops from the forehead to the lower edge of the skull in the occipital bone region. Encephaloceles can also occur near the sinuses or nose.
How is encephalocele diagnosed?
The diagnosis of encephalocele is usually made before or immediately after birth. However, sometimes a small encephalocele that is present in the nose and forehead area may not be noticed immediately. During prenatal ultrasound follow-ups, it may be seen as a cystic mass containing herniated brain tissue. If the mass looks more cystic, the meningocele component dominates, while the encephalocele diagnosis gains weight if the solid appearance dominates. If encephalocele is diagnosed prenatally October, further tests such as fetal magnetic resonance imaging (MRI) may be required to determine if additional abnormalities are present. MRI is also the best imaging method used to identify the content of encephalocele before surgery. High-resolution computed tomography may also be preferred to image bone anatomy. However, in the identification of connections in the brain, which is soft tissue, the best results are obtained with MRI imaging.
How is encephalocele treatment performed?
The course of the disease varies depending on the presence of associated anomalies and microcephaly. A much worse clinical course is observed in cases accompanied by microcephaly. Often, a cesarean section is preferred for a less traumatic birth for the fetal head. Treatment for encephalocele involves performing a series of surgical procedures to place the herniated part of the brain and the membranes covering it back into the skull and close the opening in the skull. However, neurological problems caused by encephalocele, unfortunately, do not go back with this treatment. Depending on the severity of the defect, its location, and the parts of the head and face affected by encephalocele, multiple surgeries may be required, and the duration of treatment varies from patient to patient. Depending on whether the sagging tissue is closed by a layer of skin, the surgical procedure is performed between birth and 4 months Dec. If the skin layer is present and functions as a protective cover, the application may be delayed for a few months so that the baby can be ready for surgery. If there is no skin layer, it would be a more correct approach to perform surgery shortly after birth in order to prevent complications such as the development of infection.