Encephalocele: types, causes, symptoms and treatment

The skull is a bony structure that protects our brain very effectively against various blows and injuries, while allowing the brain to have a defined structure. The formation of the neural tube assembly it is performed during the first month of fetal development, ending between the third and fourth week and allowing the brain to be protected by this bony envelope.

However, in some cases, the neural tube does not close properly, which can lead to part of the material to be protected being visible and accessible from the outside or protruding. This is problems such as spina bifida or, in the case of the brain, encephalocele.

    What is an encephalocele?

    It is understood by encephalocele to be a congenital defect in which the skull does not completely close during fetal development, causing some of the material and substances that would typically be inside the cranial cavity to protrude through the opening, forming a lump or a bag-shaped protrusion containing it on the outside.

    This means that the individual with encephalocele there may be part of the brain displaced outside the skull, This implies a high level of danger for their survival due to possible injuries at the neuronal level. In fact, in many cases the fetus does not survive this situation, dying during the development process.

    The symptoms that this problem will cause in the baby will vary widely depending on the type of tissue that is on the outside of the skull and the area where the opening is located.

    Encephalocele usually works with cognitive impairment significant and developmental delay, hydrocephalus and microcephaly (since part of the neural material expands outward), motor incoordination in voluntary muscles. It can also cause vision, hearing and smell problems, and even seizures.

    Types of encephalocele

    The encephalocele can be subdivided into different typologies depending on the area in which the protuberance appears or depending on the type of material it contains.

    Type according to the location of the protrusion

    The protrusion can be located in different parts of the skull, although it is common in the three areas listed below.

    1. Frontal region

    In this area, the opening can be found at different heights, including the nose, eye socket or face. Most the sac usually does not include brain tissueIt is therefore one of the subtypes with the lowest risk of nerve damage. However, this can cause serious visual and breathing difficulties that can endanger the child’s life.

    2. Parietal region

    In parietal areas, encephalocele tends to be linked to other malformations and neurological disorders, Presenting almost half of cases of intellectual disability. In addition, speech can be affected.

    3. Occipital region

    This is the most common type of encephalocele.

    In this case, a large portion of those affected have normal intelligence or mild disability, although neural material is much more likely to protrude than in the case of a frontal opening. Visual problems often occur. It can also occur in the basal part of the skull.

    Type according to protruding material

    Another classification could be made taking into account the type of material protruding from the skull. In this sense, we can find different types, such as the following.

    1. Meningocele

    In this encephalocele subtype, only the meninges break off, so that the risk is much lower than in other cases.

    2. Hydroencephalocele

    The protruding material is cerebral meninges and ventricles, which is more serious than in the previous case and usually related to the presence of hydrocephalus.

    3. Encephalomyelitis

    In this case in addition to the meninges it also protrudes from brain matterThis results in a higher risk of neuronal damage and the presence of diverse and more serious symptoms.

    4. Hydroencephalomeningocele

    Part of the brain including the ventricles they protrude outside the cranial cavity next to the meninges, Being a condition that can be very serious.

    What are the causes?

    The causes of this alteration are, as with spina bifida, poor closure or lack of it in the neural tube during the first month of development. In fact, sometimes encephalocele was called “bifid skull”Considering the same type of malformation as spina bifida but at the cranial level. And as with this other disorder, the specific causes that cause the neural tube to not close properly during fetal development are largely unknown.

    However, it is considered that there is a link with low levels of folic acid during pregnancy (This being one of the factors most linked to this disease), serious infections in the mother or the presence of a high fever during this period or the use of substances. While the possibility of genetic influence is also discussed because families in which it has previously occurred may be at higher risk, this is not determinative.

      Treatment of encephalocele

      Although the neurological consequences of the baby’s condition during its development are not curable, prevention and early treatment they can help improve your situation and prevent further neural damage.

      For this, surgery is used in order to moving protruding material inside the skull and seal the part that has not been properly closed throughout fetal development. It is especially important to perform this surgery if there is an open lesion (that is, if there is no skin covering the bag) or if the bag significantly interferes with the baby’s breathing.

      In some cases, although it depends on the type of material left on the outside of the skull, they can even amputate the bumps. In case of hydrocephalus, surgery will also be necessary to resolve it.

      Furthermore, you will need to treat the specific symptomatology that the problem may have caused. Encephalocele is a condition that shouldn’t be fatal. However, in some cases, this condition can result in the death of the child, in which case palliative care will be carried out until the death of the child.

      Psychologically, it is very useful the presence of psychoeducation and counseling in the child’s environmentBecause it is a condition that can generate painful sensations, fear and sometimes even feelings of guilt in parents.

      In terms of education, special educational needs that may present cognitive impairments such as intellectual disabilities must be taken into account.

      Prevention

      Since the causes of this type of malformation are unknown it is advisable to adopt preventive strategies that help prevent this and other types of deformity.

      As with spina bifida, administration of folic acid during pregnancy, maintaining a balanced diet, and the process of using substances such as alcohol, tobacco, and other drugs significantly reduce the risk of developing a fetal encephalocele.

      Bibliographical references:

      • Siffel, C .; Wong, LC; Olney, RS and Correa, A. (2003). Survival of infants diagnosed with encephalocele in Atlanta, 1978-98. Pediatrician Perinat Epidemiol .; 17: 40-8.
      • Spacca, B .; Amasio, ME; Giordano, F .; Moussa, F .; Busca, G .; Donati, P. and Parents, L. (2009). Surgical management of congenital median perisellar transfenoidal encephaloceles extracranial: a series of 6 cases. Neurosurgery; 65 (6): 1140-6.

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