Brain abnormalities often form while a person is in the womb. In this case, the problem can affect both individual cerebral regions and the brain as a whole. The 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, brain MRI and neurosonography are used. The treatment is symptomatic, since it is impossible to completely get rid of brain abnormalities.
Of all congenital diseases, brain problems 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 immediately after childbirth that an anomaly can be detected, therefore complications are rather sad.
Description of the problem
What is a malformation of the brain in children? This is a disease in which the anatomical structure of cerebral structures is disturbed. The extent to which the symptoms will be noticeable in all cases depends on the degree of damage. Up to 75% of all cases result in antenatal fetal death. The timing of the manifestation is always different. As a rule, symptoms of abnormalities appear 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 become activated only after a year. There are often situations when abnormalities occur with problems of other organs, for example, kidney fusion, esophageal atresia, and so on. Today, medicine seeks to 100% diagnose a problem before giving birth. Gynecologists and obstetricians do this. As a rule, pediatricians, neurologists, neurosurgeons and neonatologists are involved in the treatment.
Brain formation
In order to have an idea of what brain structures in a newborn, a defect affects, you need to understand exactly how this human organ is formed.
The construction of the nervous system begins in the first week of pregnancy. The neural tube is finally formed by the 23rd day of gestation. If its fusion does not occur to the end, then cerebral abnormalities occur. The anterior cerebral bladder, divided into two lateral, forms the basis of the cerebral hemispheres. Formed by the 28th day of pregnancy. After this, the cortex, gyrus, basal structure of the brain, and so on.
Separation of nerve cells at the stage of the embryo 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 on time, then by the time of birth he has the same number of neurons as an adult. In the next three months, the brain develops rapidly.
Causes of anomalies
The causes of brain malformation can be various. Failure can occur at any stage in the formation of an organ. If it took place in the first six months of pregnancy, then the child has hypoplasia of the brain, and the number of produced neurons is also reduced. Even if the cerebral substance has already fully formed, it may die due to a malfunction. 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. In other cases, fetal brain malformation occurs in 1% of cases.
Another influential reason is exogenous. Many chemical compounds have a teratogenic effect. It has radioactive contamination, and some biological factors. Problematic ecology can be detrimental, because of which harmful substances enter the body of a pregnant woman. Smoking, alcoholism and drug addiction can also lead to abnormalities. Diabetes and hyperthyroidism lead to the same effect. Some medicines also have teratogenic effects. Doctors do not prescribe such drugs to pregnant women, but there are cases when, at an early stage, nothing is known about the existence of the fetus. Only one dose is enough to cause a defect. Infections transmitted by a pregnant woman can lead to abnormalities. Rubella, cytomegaly and others are considered especially dangerous.
Types of Anomalies
Unfortunately, a congenital malformation of the brain has a large number of varieties. Let's consider briefly each of them:
- Anencephaly. Represents 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 times when the “brain” is bare or covered with skin. Such a pathology is considered fatal in any case.
- Heterotopy. During neural migration, some neurons may linger 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 cerebral tissues and membranes is observed. The disease forms in the midline. Some children have an asymmetric problem. Sometimes the disease can mimic kefalogematoma. In such cases, an x-ray is used to establish an accurate diagnosis. Which prognosis depends entirely on the size and contents of the encephalocele. If the protrusion is small, and there is nerve tissue in the cavity, then surgical intervention can be used.
- Focal cortical dysplasia, or PKD. This malformation of the brain is accompanied by the presence in the body of huge neurons and abnormal astrocytes. 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 have demonstrative motor phenomena. They are in the form of gestures. An example is trampling on the spot 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 body. It occurs every 5 thousand newborns. In this case, the child’s head circumference is reduced, and the skull has disturbed proportions. In 11% of all patients with microcephaly, oligophrenia occurs. Sometimes idiocy develops. In addition, the child lags behind in physical development.
- Hypoplasia of the corpus callosum. Most often accompanied by the development of Aikardi syndrome. At risk are girls. Ophthalmic malformations, 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 brain volume. Less common is microcephaly. Manifested by mental retardation. In some patients, convulsive syndrome occurs. Partial macrocephaly occurs when the volume and mass of only one of the cerebral hemispheres is increased. The brain is asymmetrical.
- Micropolygiry. On the surface of the cortex there is a large number of small convolutions. Normally, the layers of the cortex should be 6, in patients - no more than four. It is local and diffuse. The latter is manifested by epilepsy, which develops after a year, oligophrenia, problems with the pharyngeal and chewing 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 amenable to treatment with anticonvulsant therapy. If cysts are single, then with time they dissolve.
- Pachygyria. The main gyrus strengthens, but the tertiary and secondary are completely absent. Furrows shorten and begin to straighten.
- Holoproencephaly. Hemispheres are not divided, being a single hemisphere. The lateral ventricles are also considered as one. The shape of the skull is noticeably disturbed, there may be somatic defects. As a rule, such children are either born dead or die during the first day.
- Agiria. The absence of convolutions or their underdevelopment. In addition, the architectonics of the cortex is broken. 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 phylogenetically determined malformations of the human brain. They are characterized by the absence of separation of the hemispheres. In some cases, the forebrain is not completely or partially divided into hemispheres. Another such type of disease is the correct development of the skull, but the absence of the cerebral hemispheres.
There is such a thing as phylogenetically determined malformations of the human brain. In short, these are the anomalies that in modern conditions no longer occur, but were inherent in the ancestors. There are three types of such defects. The first is associated with underdevelopment of organs. If we talk only about the brain, then this is the absence of gyrus, 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 of character is atavistic malformations, due to which the organs are not in the place where they should be, but where they were previously in normal conditions with their ancestors.
Diagnostic Methods
If we are talking about severe malformations of the brain, then an external examination will be sufficient as a diagnosis. In other cases, you need to pay attention to the condition of the child in the first year of life. Convulsions, muscle hypotension may occur. To exclude the hypoxic or traumatic nature of the lesion, an anamnesis must be considered. As a rule, if there was no asphyxiation in the child at birth, fetal hypoxia or trauma during childbirth, then the pathology is most likely congenital. During pregnancy, diagnosis is performed using ultrasound. Already in the first trimester, using this method, you can prevent the birth of a child who has a severe cerebral anomaly.
Additional diagnostic methods
Another type of diagnosis is neurosonography. It is carried out through the fontanel. After birth, you can do an MRI of the brain. It will allow you to 100% study the problem, understand what kind of disease, 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 case when it comes to family cases of cerebral abnormalities, then before and during pregnancy, you need to be observed by a geneticist. At the same time, DNA analysis and genealogical examination are done. In order to identify problems with other organs, an ultrasound scan, an x-ray and so on is done.
Treatment
Therapy is mainly aimed at reducing symptoms. With a congenital malformation of the brain (according to 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 of the brain abnormalities are accompanied by the development of epilepsy. It does not respond to anticonvulsant monotherapy. Therefore, two drugs are used at once, for example, Levetiracetam and Lamotrigine. If hydrocephalus occurs, then the doctor conducts dehydration therapy. If necessary, a shunt operation is performed. In order to improve the metabolism of the body, as well as return to the brain tissues normal functionality, it is necessary to take B vitamins, glycine, and so on. Nootropic drugs are allowed only if there is no episindrome.
Mild defect treatment
If the child has a mild degree of brain malformation (according to ICD-10 code - Q04), then a neuropsychological correction is performed. Doctors recommend that the child engage with a psychologist, attend art therapy. Children need to be sent to specialized schools. If you carry out such methods of therapy, the child will be able to serve himself. It will also reduce the level of oligophrenia and help the child adapt in society.
Forecast
The prognosis, as a rule, is unfavorable, but also depends on the degree of defect. If at a young age, epilepsy develops, which is not amenable to standard therapy, then doctors consider this symptom to be unfavorable. A brain defect along with somatic problems also does not give a high chance of a long life. Therefore, it is important even before the birth of a child to understand that he has problems with the development of the brain.
Summary
In 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 the affected ones reach this period. Most often, children are either born dead or die on the first day or 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 health and get rid of all bad habits. There is no guarantee that, it would seem, regular smoking does not provoke a malfunction in the formation of the fetal brain.
Those children who are born and live at least 10 years old, drink pills all their lives. It is difficult for them to walk, do some things on their own, talk. Of course, it all depends on the degree of brain damage. There are those children who have a slight deviation. An important task of the parent is to spend all time with the child and develop it. A small percentage of children are able to perfectly integrate into society and calmly exist independently. The chance is small, but it is available.