Brain schizencephaly is a severe congenital malformation of the hemispheres. An abnormality in the fetus occurs at 2-5 weeks of the fetal period. Due to the lack of blood supply, the cerebral cortex of the embryo is not formed correctly; clefts form in it. This leads to severe neurological disorders in children, which often persist in adulthood. What is the prognosis for this disease? And how does such an anomaly affect the quality of life of the patient? We will consider these issues in the article.
Description and causes of anomalies
The normal development of the cortex of the hemispheres in the fetus depends on the unhindered flow of neurons. Due to a lack of blood supply to the fetus, the supply of nerve cells to the brain may be impaired. This leads to the fact that certain sections of the cortex remain unformed. In their place, crevices form. Doctors call this defect brain schizencephaly. The baby is born with an abnormality of the central nervous system, which remains with him throughout his life.
The exact causes of the defect in medicine are unknown. In some cases, medication during pregnancy can affect the blood supply to the fetus, as well as infectious diseases in the expectant mother (for example, cytomegalovirus). However, children with a cleft in the cerebral cortex are often born in completely healthy women who were not exposed to any adverse effects.
In a small part of adult patients, defects in the genes were detected. However, it cannot be said that this pathology is hereditary. Cases of schizencephaly in several members of the same family are very rare.
ICD code
The international classification of diseases classifies this pathology as congenital malformations of the central nervous system (code Q04). The complete code for brain schizencephaly according to ICD-10 is Q04.6. The disease is considered as one of the varieties of congenital cerebral cysts.
Types of pathology
Manifestations and prognosis of schizencephaly of the brain largely depend on the degree of defect in the cerebral cortex. Neuropathologists distinguish two types of anomalies:
- Closed cleft. The walls of the gap are interconnected by the epithelium. The communication between the ventricles and the meninges is not broken, and there is no cerebrospinal fluid in the cleft. This type of pathology cannot be detected during prenatal diagnosis.
- Open (open) crevice. The walls of the defect do not communicate with each other. The anomaly looks like a deep groove in the cortex. It passes from the ventricles of the brain to its shells. The cavity of the gap is filled with cerebrospinal fluid, which often causes hydrocephalus. With this form of schizencephaly of the brain, MRI shows ventricular hypertrophy.
In about half the cases, a closed cleft is diagnosed. In a third of patients, the pathology is complicated by hydrocephalus.
Clefts can be noted both on one or both sides. A bilateral defect is usually accompanied by more severe symptoms and has a less favorable prognosis.
General symptoms
Usually the first signs of the disease appear in children 4 to 5 years old. But sometimes manifestations of the pathology are noticeable in infants in 3 to 4 weeks. Symptoms depend on the type of defect. But we can distinguish common signs of the anomaly:
- frequent bouts of seizures;
- hydrocephalus (accumulation of fluid in the brain);
- microcephaly (small head sizes);
- low muscle tone.
In almost all patients, schizencephaly of the brain leads to impaired vision, hearing and smell. The severity of disorders depends on the degree of brain defect. In 100% of cases, the disease is accompanied by motor dysfunction. In patients, coordination of movement is impaired, muscle paralysis often occurs.
This is how schizencephaly manifests itself in children. As for adults, they may persist in motor impairment and bouts of seizures. The severity of symptoms in adulthood largely depends on the location of the cleft.
Unilateral cleft: symptoms
If the defect affects only one side of the cerebral hemispheres, then the pathology proceeds more favorably. In childhood, the following symptoms are noted in patients:
- unilateral paralysis and paresis;
- impaired coordination of movements (on one side of the body);
- apathy;
- lag in mental and physical development;
- difficulty with speech perception.
In adulthood, the mental and physical development of patients is normalized. Most mature people with closed one-sided brain schizencephaly have a medium development of intelligence and are well adapted to life in society. However, they may retain motor impairment and high intracranial pressure, especially if they did not receive the necessary treatment in childhood.
Signs of bilateral schizencephaly
This form of pathology is much more difficult. In patients, the connection between the brain and spinal cord is broken. As a result, severe motor impairment and bilateral paralysis are noted. Many patients cannot move independently.
In addition, children with bilateral brain schizencephaly have a severe mental retardation. They study with great difficulty in a regular school. It is very difficult for them to master new knowledge and subjects.
Cognitive impairment and paralysis can persist in adults. Adaptation and rehabilitation of such patients is extremely difficult. They often need outside help.
The severity of symptoms in this case does not depend on the size of the cleft. Even small bilateral cracks in the hemispheres can significantly impair the patient's quality of life.
Diagnostics
The most reliable way to identify pathology is an MRI scan. In the diagnostic image, a gap in the hemispheres is clearly visible. Using magnetic resonance diagnostics, you can also determine the closed or open form of the cleft.
Additionally, an electroencephalogram is prescribed. This examination allows to detect the presence and localization of epileptic foci.
Schizencephaly is not always detected during prenatal screening. Examination usually shows a cyst in the brain. To clarify the nature of the defect, it is necessary to do an MRI of the fetal head.
Therapies
Treatment of schizencephaly in the brain can only be symptomatic. Such a defect is not subject to surgical correction.
With epileptic seizures, anticonvulsants are prescribed:
- Finlepsin.
- Depakin.
- "Convulex".
In mild cases, taking antiepileptic drugs leads to the complete disappearance of seizures.
With more severe forms of pathology, the administration of botulinum toxin-based drugs helps to stop cramps. They slow down the transmission of signals from nerves to muscles and reduce the frequency of seizures.
If the patient has cognitive impairment, then appoint sessions of electrical stimulation of the brain. Procedures help increase the activity of the cerebral cortex.
With hydrocephalus, diuretics are indicated:
- Veroshpirona.
- "Diakarba".
- "Furosemide."
However, diuretics help only temporarily reduce cerebral pressure and alleviate the condition of the patient. A more radical and effective treatment is bypass surgery. A special tube is inserted into the brain. On it, cerebrospinal fluid flows into another part of the body, where it is absorbed.
Be sure to prescribe therapeutic exercises to improve coordination and increase muscle tone. Exercise also helps restore movement in paralysis and paresis. Sick children need developmental activities with a speech therapist. The help of an occupational therapist may be required to teach the child self-care skills.
Duration and quality of life
As for life expectancy, the prognosis of brain schizencephaly in adults is quite favorable. This defect does not affect the number of years lived. A fatal outcome occurs only in case of severe complications: joining infections, metabolic disorders, multiple organ failure. This is quite rare, mainly in the absence of proper treatment.
The prognosis of the patient's quality of life is more favorable with closed and unilateral crevices. In these cases, patients maintain normal intelligence, and they can adapt normally in society. However, they may continue to have motor impairment, high intracranial pressure, and cramps throughout their lives. Such patients need constant medication, and sometimes a bypass surgery.
With bilateral clefts, the outcome of the disease is less favorable. In adult patients, mental impairment and paralysis may remain. Often this leads to disability and the need for outside care of the patient. The prognosis of pathology significantly worsens with frequent epileptic seizures.
It can be concluded that schizencephaly is a dangerous and serious disease. The prognosis of pathology in adult patients largely depends on the quality of treatment carried out in childhood.