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Hydranencephaly: symptoms, causes and treatment

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The development of our organism is something complex. From the moment the spermatozoon fertilizes the egg until we are born, multiple processes take place and generate our organs and body systems. The nervous system is one of the first to appear, along with the heart, and it will develop both during pregnancy and throughout life.

However, sometimes during pregnancy different problems occur that can cause the formation of our brain to not come to fruition. One of the multiple alterations that can occur is hydranencephaly, which we will discuss in this article.

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What is hydranencephaly?

It is understood by hydranencephaly a type of congenital malformation consisting of the absence of practically the entire brain, specifically of the cerebral cortex, the space generally occupied by this being replaced by cerebrospinal fluid. Despite this, the shape of the subject's head may be normal, with the cavities and meninges surrounding the skull being preserved. The cerebellum and the brainstem are usually correctly formed and functional, with basic vital functions such as breathing and heart and respiratory rhythm. Also other subcortical structures may be preserved.

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The absence of a brain is due to the appearance of some type of destructive process during pregnancy, from the twelfth week. This will have severe repercussions in most cases, as these children are generally unable to carry out the basic functions that such a structure would perform.

Although it may seem surprising due to the total or almost total absence of the cerebral cortex, initially some of the children who are born with this problem can present an appropriate behavior and way of interacting with the world, being able to eat correctly and not being diagnosed accordingly. immediate. But in general, the existence of different alterations such as seizures, paralysis, or sensory disturbances such as blindness or deafness. They may present absent or slow growth, hypotonia, or high irritability. The presence of some degree of mental and physical disability is expected, requiring and depending on external care.

In most cases, the prognosis of children who suffer from this disorder is very negative, with most of those who suffer from it dying before one year of age. But there are also numerous cases in which, despite their condition, they manage to survive and even overcome adolescence and reach adulthood.

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Hydranencephaly and hydrocephalus: differences

It is important to take into account, since they are diagnoses that can be confused, that Hydranencephaly and hydrocephalus are not the same. Both disorders are similar in that there are large sacs of cerebrospinal fluid in the brain that occupy a large part of the skull, but while in hydrocephalus the excess fluid pushes the brain tissue and the existence of at least part of irrigated brain tissue can be observed, in hydranencephaly said tissue is not directly exists.

Both disorders can be related, but it must be taken into account that hydranencephaly cannot be a consequence of hydrocephalus. What is possible is that a hydranencephaly ends up causing a hydrocephalus: the fluid that takes the place of the brain can reach accumulate before the production of more cerebrospinal fluid, causing an increase in intracranial pressure and/or protrusion of the skull.

Possible causes

Hydrocephalus is a congenital malformation whose causes can be multiple. Generally, as we have said before, it is due to a destructive process that affects brain tissue during pregnancy. Said destruction can be caused by different elements, the most frequent being heart attacks or strokes caused by internal carotid rupture.

Other causes besides cerebrovascular accidents can be found in infection by different types of viruses or intoxication derived from the consumption of alcohol or drugs by the mother during development fetal. Finally, can be caused by diseases and genetic disorders.

Treatment

Hydranencephaly, as a congenital condition that it is, currently has no curative treatment. This does not mean that no type of therapy can be used, although will tend to be palliative and aimed at improving the patient's quality of life. It is not uncommon for some form of cerebrospinal fluid drainage or diversion to be performed to prevent possible hydrocephalus and accomulations.

The treatment with the parents and environment of the minor is also of great importance, requiring psychoeducation and advice given the difficult situation that this disorder entails, as well as the risks that she will face baby. Attending support groups can also be very helpful. as well as psychotherapy in order to combat beliefs, fears and emotional disturbances generated by the diagnosis (being able in some cases to experience disorders such as depression).

In cases where there is survival, the baby will require different supports and aids. The use of physical therapy, speech therapy, training in basic daily living skills, special education, and other professional care may be required.

Bibliographic references:

  • Kinsman, S.L.; Johnston, M.V. (2016), Congenital anomalies of the central nervous system. In: Kliegman, R.M.; Stanton, B.F.; St. Geme, J.W.; Schor, N.F. (eds). Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier;: chap 591.
  • Marin, C.C. & Robayo, G. (s.f.). Hydranencephaly. Report of a case. Colombian Journal of Pediatrics, 40 (4).
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