Idiopathic generalized epilepsy is one of the most common diseases in the field of pediatric neurology. The disease actively manifests itself already in preschool age. This leads to a deterioration in the further development of the child, a decrease in school performance.
The mechanism of development of epilepsy
Epilepsy is a chronic disease with a tendency to a gradual worsening of symptoms. It develops due to imbalance in the brain between excitatory and inhibitory systems. In the cerebral cortex, foci of increased epileptic readiness are formed (as they are called by neurologists). They are activated under the influence of any external factors: strong light, flickering objects, after stress or nervous tension.
The most common manifestation of epilepsy is a seizure. But there are also forms of epilepsy, the clinical manifestations of which do not include convulsions.
The presence of only one seizure is not yet the basis for a diagnosis. Only seizures recurring in dynamics can be epilepsy. A single attack in children is a symptom of various pathologies. Febrile cramps are common (at high temperature).
Forms of epilepsy
Epileptic syndromes are classified according to two main signs: the cause and nature of the attacks.
Depending on the cause, these forms of the disease are distinguished:
- idiopathic - arise as a result of a hereditary predisposition;
- symptomatic - attacks occur against the background of other pathologies of the brain (injuries, tumors, inflammation, cerebrovascular accident);
- cryptogenic - forms of epilepsy in which it is not possible to establish the cause even after an instrumental examination.
Depending on the nature of the attacks, the following groups of epilepsy are distinguished:
- with partial seizures - a small area of the cerebral cortex is involved in the process;
- generalized - simultaneous activation of the entire cerebral cortex occurs simultaneously;
- partial with secondary generalization - the excitation, which began in one area, then extends to the entire cortex.
The classification of generalized idiopathic epilepsy and epileptic syndromes also takes into account the age of the onset of attacks (infant or adolescent form) and the prognosis of the disease (there are benign and malignant forms).
Features of hereditary (idiopathic) epilepsy
It is the most common form of the disease in children and adolescents. Diagnosis of idiopathic epilepsy in children is possible with the following symptoms:
- The development of the disease as a result of a hereditary predisposition.
- The absence of any other causes: brain injury, swelling, inflammation (encephalitis) and so on.
- Attacks are generalized from the onset of the disease.
- It meets the criteria for electroencephalography (EEG), which will be discussed in the corresponding section.
With idiopathic epilepsy with generalized seizures, simultaneous excitation of two forebrain hemispheres occurs. Scientists still have not figured out how this simultaneous activation occurs. However, it became clear that in addition to, in fact, the cerebral cortex, subcortical structures, primarily the thalamus, are involved in the process.
Scientists also discovered specific areas of genes necessary for the development of individual forms of generalized idiopathic epilepsy and epileptic syndromes. This is a breakthrough in modern medicine, this discovery provides an opportunity for further research in the field of genetic engineering. There is a chance that soon epilepsy will be treated by changing the structure of genes.
Forms of the disease
The code of idiopathic generalized epilepsy according to ICD-10 (international classification of diseases) - G40.3.
According to the "International Antiepileptic League" distinguish the following forms of the disease:
- childhood abscess epilepsy;
- with myoclonic absences;
- with myoclonic-astatic seizures;
- with phantom absences;
- juvenile abscess epilepsy;
- epilepsy of infants with myoclonic seizures;
- with generalized tonic-clonic seizures.
When making a diagnosis, it is necessary to take into account the form of the disease, since different groups of drugs are effective in different forms of epilepsy.
Disease criteria
To simplify the identification of idiopathic epilepsy of a generalized form, a number of diagnostic criteria have been identified:
- The debut of the disease is before the age of 21 years, in rare cases, it is possible to start up to 25 years. When debuting at an older age, you should consider the presence of symptomatic epilepsy.
- The presence of epilepsy in the next of kin also speaks in favor of the idiopathic form.
- Seizures should be one of the three types listed: generalized, absences, myoclonus.
- Normal intellectual abilities of the child.
- No changes during a neurological examination.
- The presence of appropriate criteria for electroencephalography is desirable, but not necessary when making a diagnosis.
- When examining the brain using MRI or CT, there are no changes.
- Good response to drug therapy.
Features of a children's form with absences
Seizures in the form of absences are the most common form of idiopathic epilepsy in children. It accounts for approximately 50% of all forms of the disease. Girls are more susceptible to this disease.
Causes. Specific localization of the defect in the genes has not been identified. There are theories about multiple changes in the genetic set that lead to seizures.
Age of onset of the disease. The first attack appears at the age of 2 to 10 years, most often - at 5-6 years.
Symptoms Abscesses are a type of seizure that is not accompanied by convulsions. It is characterized by turning off consciousness for a short period of time (several seconds). In childhood forms, consciousness quickly turns off and then reappears. After the attack, the consciousness is completely clear, without confusion.
Children are characterized by a very frequent occurrence of absences - up to 100 times a day.
Most often, complex absences arise, in which, in addition to turning off consciousness, there is a tonic component. It is manifested by an increase in the tone of the whole body, arching of the body, throwing the head back. Usually an attack lasts up to 10 minutes with a very short tonic period.
In the future, in the absence of adequate therapy, generalized seizures join.
Features youthful form with absences
This form occurs in 23% of all cases. And among idiopathic forms of epilepsy, with onset over the age of 20, it is 8-10%. In juvenile epilepsy, the localization of a genetic defect is also not exactly established.
It starts at the age of 5 to 21 years, in 70% - from 9 to 13 years.
In a youthful form, seizures are in the form of simple absences. That is, there is only a complete shutdown of consciousness, without tonic muscle spasm. Attacks are shorter than in children. On average, they last 16 seconds (from 4 to 30).
In 70% of cases, generalized seizures are also present. Perhaps the presence of myoclonic muscle twitches.
Features of epilepsy with myoclonus
It can manifest itself as myoclonuses with absences, and a youthful myoclonic form.
Absolute epilepsy with myoclonus is characterized by blackouts with massive, sweeping muscle twitches. The muscles of the shoulder girdle, upper and lower extremities are mainly involved in the process. Twitching simultaneously begins on both sides, they are symmetrical. The attack lasts up to one minute.
Sometimes with idiopathic generalized epilepsy, children have a hunch about an approaching attack. This condition is called "aura".
In the youthful myoclonic form, the localization of the defect in the gene is clearly defined. The peak of onset of symptoms occurs in adolescence (14-15 years). It manifests itself with sweeping myoclonuses with full consciousness. Twitching occurs mainly in the shoulders and arms. Myoclonus in the lower extremities can lead to a sharp fall of the child to his knees.
The occurrence of attacks is characteristic when the child is on the verge between sleep and wakefulness: either when falling asleep, or in the morning when waking up. It is possible to provoke seizures with a violation of the daily routine, bright light, in girls - menstruation, mental stress.
Often join generalized attacks of idiopathic epilepsy. They can be from the very beginning of the disease, and only then muscle twitches join.
Features of the disease with generalized seizures
Idiopathic epilepsy with generalized convulsive seizures is a variant of the development of the disease in which the only type of seizure is generalized.
The first seizures appear in young boys and girls most often aged 16-17 years.
A classic generalized attack consists of two phases: tonic and clonic. The first is characterized by a simultaneous contraction of almost all muscle groups. This is manifested by arching the body, the inability to open the patient's mouth, extension of the arms and legs. A spasm of the muscles of the larynx leads to a strong cry of the patient, which often scares those who are nearby. It is worth knowing that patients do not cry out from pain, but precisely because of muscle contraction. The next is the clonic phase. The patient literally shakes the whole body. After the end of the attack, foam may be released from the mouth.
Attacks can be short (30 seconds) and long (up to 10 minutes). Usually the attack is single, the repetition is not characteristic. Most often, seizures occur in the first two hours after waking up, suddenly, without an “aura” preceding them. This beginning is especially dangerous for the patient, as he is taken by surprise. This could result in serious fall and personal injury.
They are often provoked by excessive intake of alcoholic beverages, insomnia, and the menstrual period in women.
It is inappropriate to compare idiopathic and generalized epilepsy, since the generalized form is one of the idiopathic varieties.
Diagnosis of the disease
Diagnosis of idiopathic generalized epilepsy should be carried out as early as possible. An early diagnosis provides a timely start to treatment. And timely therapy improves the prognosis of idiopathic generalized epilepsy for recovery.
The most effective diagnosis method is electroencephalography (EEG). With its help, you can not only diagnose "epilepsy", but also establish the localization of the lesion.
The essence of this method is to record the electrical activity of the brain using electrodes that attach to the head. Further this record is displayed on the computer monitor. It has the form of waves of various shapes and amplitudes.
For the diagnosis of idiopathic epilepsy, the following criteria for electroencephalography must be observed:
- normal EEG background;
- normal recording during sleep;
- between attacks there is activity on the EEG with peak waves with a frequency of at least three complexes per second;
- activity occurs in two hemispheres at the same time and has a generalized character;
- in the phase of slow sleep, an increase in epileptic activity is characteristic;
- when benzodiazepines are injected, epileptic activity ceases.
The advantages of the method are that it is absolutely safe and painless. When conducting an EEG, video monitoring is used. Recording to the camera allows you to compare the presence of an attack with the changes on the computer monitor.
For maximum effectiveness, stimulation is possible. A flicker of light or a series of deep breaths and exhalations can activate epileptic foci in the brain. This will cause a corresponding change in the EEG.
Disease treatment
In the vast majority of cases, the treatment of idiopathic generalized epilepsy is life-long. It depends on the form of epilepsy, as well as the severity of the course of the disease.
One of the most effective drugs for the treatment of all forms of idiopathic epilepsy is Sodium Valproate. The effectiveness of treatment with this drug alone, without any combination, is 75%. It is effective for absences, myoclonic and generalized seizures. But a large number of adverse reactions limit the use of this drug.
Clonazepam is also highly effective, but has a wide range of side effects. In addition, the patient quickly develops addiction to the drug, which requires an increase in the dose, and then its replacement with another medicine.
Lamotrigine is used only for the treatment of absences and generalized seizures. Its effect for the treatment of myoclonus is not fully understood.
In the treatment of childhood abscess epilepsy , the use of Ethosuximide is recommended. But it can not be used to treat youthful absences. In the youthful form, there is a high risk of developing generalized seizures, and Ethosuximide is not effective for their treatment.
Here is a list of the main drugs for treating various forms of seizures with idiopathic generalized epilepsy.
Lists of drugs of different spectrum of action| Absences | "Sodium valproate", or "Ethosuximide" (in children), or "Lamotrigine"; Clonazepam; combination of these drugs |
| Generalized tonic-clonic seizures | "Sodium Valproate"; Clonazepam; Piracetam or a combination of drugs |
| Myoclonus | "Valproate Sodium" or "Lamotrigine"; "Clonazepam" or "Carbamazepine"; combination of drugs |
Important! All examples of treatment are purely recommendatory in nature. The appointment of drugs, their dosage and monitoring of therapy should be carried out only by the attending physician.