Anomalies of the brain are often formed while a person is in the womb. In this case, the problem can affect both individual cerebral regions and the brain as a whole. Clinical symptoms are uncharacteristic. Most often, there is a delay in development, both psychological and mental, and an epileptic syndrome is also formed. How strong the manifestations will be depends entirely on the severity of the lesion. Diagnosis is by ultrasound before birth. After that, EEG, MRI of the brain and neurosonography are used. Treatment is symptomatic, as it is impossible to completely get rid of brain anomalies.
Of all congenital diseases, problems with the brain occur in 1/3 of cases. Often this problem leads to the death of the fetus. Only a quarter of all children survive. Also, in newborns, it is not always possible to detect an anomaly immediately after birth, so the complications are rather sad.
Problem description
What is it - a malformationbrain in children? This is a disease in which the anatomical structure of the cerebral structures is disturbed. How noticeable the symptoms will be in all cases depends on the degree of damage. Antenatal fetal death occurs in up to 75% of all cases. The timing of the manifestation is always different. As a rule, the symptoms of anomalies appear already in the first months after birth. But due to the fact that the brain is formed before the age of eight, most of the defects are activated only after a year. It is not uncommon for anomalies to occur with problems of other organs, for example, fusion of the kidneys, esophageal atresia, and so on. Today, medicine strives to diagnose the problem before the birth of a child in 100% of cases. This is done by gynecologists and obstetricians. As a rule, pediatricians, neurologists, neurosurgeons and neonatologists are involved in the treatment.
Formation of the brain
In order to have an idea of what brain structures the defect affects in a newborn, you need to understand exactly how this human organ is formed.
Building the nervous system begins in the first week of pregnancy. The neural tube is finally formed by the 23rd day of gestation. If its infection does not occur to the end, then cerebral anomalies occur. The anterior cerebral bladder, dividing into two lateral ones, forms the basis of the cerebral hemispheres. Formed by the 28th day of pregnancy. After that, the cortex, convolutions, basal structures of the brain and so on are formed.
Nerve cell separationat the embryonic stage, it forms gray matter, as well as glial cells, which make up the human brain. Gray matter is responsible for the functioning of the nervous system. Glial cells make up the white matter. It is responsible for the connection of all cerebral structures. If a child is born at term, then by the time of birth he has the same number of neurons as an adult. Over the next three months, the brain develops intensively.
Causes of anomalies
The causes of brain malformation can be different. Failure can occur at any stage of organ formation. If it took place in the first six months of pregnancy, then the child experiences hypoplasia of the brain sections, and the number of produced neurons also decreases. Even if the cerebral substance is already fully formed, it can die due to a failure. Most often, the cause of such a problem is considered to be the effect on the pregnant woman and, accordingly, the fetus of harmful substances that have a teratogenic effect. Otherwise, malformation of the fetal brain occurs in 1% of cases.
Another influential reason is exogenous. Many chemical compounds are teratogenic. It is also caused by radioactive contamination and some biological factors. Problematic ecology can have a detrimental effect, due to which harmful substances enter the body of a pregnant woman. Smoking, alcoholism and drug addiction can also lead to the formation of anomalies. Diabetes mellitus, hyperthyroidism lead to the same effect. Some medications are also teratogenic. Doctors do not prescribe to pregnant women suchdrugs, but there are cases when at an early stage nothing is known about the existence of the fetus. Only one dose is enough to form a defect. Infections carried by a pregnant woman can lead to abnormalities. Rubella, cytomegaly and others are considered especially dangerous.
Types of anomalies
Unfortunately, congenital malformation of the brain has a large number of varieties. Consider briefly each of them:
- Anencephaly. It is the absence of the brain and bones of the skull. Instead of an important organ, the child has many connective growths and cysts. There are cases when the "brain" is exposed or covered with skin. Such a pathology is considered fatal in any case.
- Heterotopia. During neuronal migration, some neurons may be delayed and not reach the cortex. Such clusters can be single or multiple. The form is tape and nodal. It differs from tuberous sclerosis in that contrast does not accumulate. A similar malformation of the brain in children is manifested by oligophrenia. The severity of symptoms depends on the size and number of heterotopions. If the cluster is single, then the first manifestations may appear after 10 years.
- Encephalocele. Pathology affects the bones of the skull, they do not connect in some places. In this case, deformation of the cerebral tissues and membranes is observed. The disease is formed in the midline. Some children have an asymmetric problem. Sometimes the disease can mimic a cephalohematoma. Suchcases, x-rays are used to establish an accurate diagnosis. What prognosis depends entirely on the size and contents of the encephalocele. If the protrusion is small, and there is nervous tissue in the cavity, then surgery can be used.
- Focal cortical dysplasia, or FCD. This malformation of the brain is accompanied by the presence of huge neurons and abnormal astrocytes in the organ. As a rule, they are localized in the frontal and temporal parts of the skull. In the first time after the development of the disease, the child may experience demonstrative motor phenomena. They are in the form of gestures. An example is marking time and so on.
- Microcephaly. The problem is characterized by a decrease in the volume and mass of the brain. This happens due to the underdevelopment of the organ. It occurs once in 5 thousand newborns. At the same time, the head circumference of the child is reduced, and the skull has disturbed proportions. Oligophrenia occurs in 11% of all patients with microcephaly. Sometimes idiocy develops. In addition, the child lags behind in physical development.
- Hypoplasia of the corpus callosum. Most often accompanied by the development of Aicardi syndrome. Girls are at risk. Ophthalmic defects, dystrophic foci and other problems may occur. This malformation of the brain can be detected with ophthalmoscopy.
- Macrocephaly. It is characterized by an increase in the volume of the brain. Microcephaly is less common. Manifested by mental retardation. Some patients develop convulsions. There is partial macrocephaly, when the volume and mass of only one of thehemispheres of the brain. The medulla of the skull is asymmetrical.
- Micropolygyria. On the surface of the cortex there are a large number of small convolutions. Normally, there should be 6 layers of the cortex, in patients - no more than four. It can be local and diffuse. The latter is manifested by epilepsy, which develops after a year, mental retardation, problems with the pharyngeal and masticatory muscles.
- Cystic cerebral dysplasia. This malformation of the brain is accompanied by the formation of cystic cavities in the organ. They connect to the ventricular system. Cysts can be of completely different sizes. In some cases, they develop in only one hemisphere. The appearance of cysts can be manifested by epilepsy, which is not treatable with anticonvulsant therapy. If the cysts are single, then over time they resolve.
- Pachygyria. The main convolutions are strengthened, but the tertiary and secondary are completely absent. Furrows shorten and begin to straighten.
- Holoprosencephaly. The hemispheres are not separated, being a single hemisphere. The lateral ventricles are also considered to be one. The shape of the skull is noticeably disturbed, there may be somatic defects. As a rule, such children are either stillborn or die during the first day.
- Agyria. Absence of convolutions or their underdevelopment. In addition, the architectonics of the crust is disturbed. The child has a disorder of mental and motor development, as well as convulsions. As a rule, such children die in the first year of life.
Additional views
In addition, there are phylontogenetically determined malformations of the human brain. They are characterized by the absence of separation of the hemispheres. In some cases, the forebrain is not divided at all or partially into hemispheres. Another such type of disease is the correct development of the skull, but the absence of cerebral hemispheres.
There is such a thing as phylogenetically determined malformations of the human brain. In short, these are the anomalies that are no longer found in modern conditions, but were inherent in the ancestors. There are three types of such defects. The first is related to the underdevelopment of organs. If we talk only about the brain, then this is the absence of convolutions, cortex, non-separation of the hemispheres. Sometimes there is a small amount of thickened convolutions. The second type is associated with the preservation of embryonic structures that were previously characteristic of ancestors. The third type is characterized by atavistic defects, due to which the organs are not in the place where they should be, but where they previously were in normal conditions among the ancestors.
Diagnostic Methods
If we are talking about severe malformations of the brain, then an external examination will be enough as a diagnosis. In other cases, you need to pay attention to the condition of the child in the first year of life. There may be convulsions, muscle hypotension. To exclude the hypoxic or traumatic nature of the lesion, it is necessary to consider the anamnesis. As a rule, if there was no asphyxia in a child at birth, fetal hypoxia, or trauma duringtime of childbirth, then most likely the pathology is congenital. During pregnancy, diagnosis is carried out using ultrasound. Already in the first trimester, using this method, it is possible to prevent the birth of a child who has a severe cerebral anomaly.
Additional diagnostic methods
Another type of diagnostics is neurosonography. It is carried out through the fontanel. After birth, you can do an MRI of the brain. It will allow you to study the problem 100%, to understand what the nature of the disease is, where the anomaly is located, whether there are cysts, what size, and so on. If there is a convulsive syndrome, then the selection of therapy is carried out after the EEG. In the event that we are talking about family cases of cerebral anomalies, then before and during pregnancy it is necessary to be observed by a geneticist. DNA analysis and genealogical examination are done. In order to identify problems with other organs, ultrasound, x-rays and so on are done.
Treatment
Therapy is mainly aimed at reducing symptoms. With a congenital malformation of the brain (according to the ICD-10 code Q04 is assigned), the child should be observed by a pediatrician, neonatologist, neurologist and epileptologist. If there is a convulsive syndrome, then it is necessary to prescribe anticonvulsant therapy. Most brain anomalies are accompanied by the development of epilepsy. It is not treatable with anticonvulsant monotherapy. Therefore, two drugs are used at once, for example, Levetiracetam and Lamotrigine. If hydrocephalus occurs, the doctor conducts dehydration therapy. Atbypass surgery is necessary. To improve the body's metabolism, as well as restore normal functionality to the brain tissues, it is necessary to take B vitamins, glycine, and so on. Nootropics are only allowed if there is no episyndrome.
Treatment of mild malformation
If a child has a mild degree of malformation of the brain (according to the ICD-10 code - Q04), then a neuropsychological correction is performed. Doctors recommend that the child engage with a psychologist, attend art therapy. Children should be sent to specialized schools. If such methods of therapy are carried out, then the child will be able to serve himself. It will also reduce the level of mental retardation and help the child adapt to society.
Forecast
The prognosis is usually unfavorable, but it also depends on the degree of the defect. If epilepsy develops at a younger age, which is not amenable to standard therapy, then doctors consider such a symptom to be unfavorable. The defect of the brain, together with somatic problems, also does not give high chances for a long continuation of life. Therefore, it is important to understand before the birth of the child that he has problems with the development of the brain.
Results
As a conclusion, it must be emphasized that the described problem cannot be cured. Any therapy is aimed at relieving symptoms. Most sick children die during the first 3 years of life. Moreover, a small percentage of those affected reach this period. Most often, childrenare born dead or die on the first day or the first year.
Unfortunately, it is impossible to identify all the causes of malfunctions in the body that lead to brain defects. But it should be noted that a pregnant woman needs to carefully monitor her he alth and get rid of all bad habits. There is no guarantee that seemingly ordinary smoking will not provoke a failure in the formation of the fetal brain.
Those children who are born and live to at least 10 years old take pills all their lives. It is difficult for them to walk, to do things on their own, to speak. Of course, it all depends on the degree of destruction of the brain. There are those children who have a slight deviation. An important task of the parent is to spend all the time with the child and develop it. A small percentage of children are able to perfectly integrate into society and quietly exist on their own. The chance is small, but it exists.