Syndrome Drava. Severe myoclonic epilepsy in infancy

Among various manifestations of childhood epilepsy, the Drave syndrome occupies a special place and is, perhaps, the most serious and life-threatening pathology. This syndrome manifests itself in the first year of the baby's life and often leads to a serious disruption of his psychomotor development, and in some cases - to death. This rather rare disease, its main symptoms and methods of treatment, we will discuss later in the article.

In what cases do people talk about the presence of the Drava syndrome?

The Drava syndrome is not common, it is noted that 1 person per 40,000 newborns is affected by this pathology (with boys accounting for about 66% of the number of cases). But this, by the way, leads to the fact that doctors sometimes find it difficult to identify a correct diagnosis and, thus, precious time is lost. And with this syndrome without supportive therapy, the condition of the child, as a rule, deteriorates with age.

If a child who has not reached the age has frequent seizures that have a serial or status current (i.e., they follow one after another and the patient does not come to consciousness in the intervals) and besides the drugs resistant to the action of anticonvulsant drugs, one can suspect the syndrome Drava.

Children at the same time often experience multiple seizures throughout the day, and lasts for about a week. Then for a couple of weeks there comes a lull, and everything repeats again.

Epileptic status in the Drave syndrome is quite common. It can be accompanied by cramps or be convulsive, in the form of a different intensity of consciousness disorders with segmental myoclonias (rapid muscle twitchings).

Syndrome Drava: the causes

The main cause of the described syndrome, the researchers call a genetic predisposition, namely - the presence in the genes of a patient mutation of the sodium channel.

The provoking factors for the beginning of the development of the described condition in the baby are usually the rise in body temperature during any disease, taking a hot bath, overheating. Also, it can be a strong fatigue or stimulation with light (flashing lights, transition from a dark room to a brightly lit, etc.). It should be noted that all this and in the subsequent years of the patient's life will be dangerous for him, causing various attacks of strength.

Syndrome Drava: symptoms

The main manifestations of the Drave syndrome include both focal and generalized epileptic seizures. Focal seizures are different in that the area of excitation that provokes their occurrence is only in one part of the brain. In the case of the development of pathological activity of neurons in both hemispheres, it is a question of generalized attacks.

Convulsions in the Drave syndrome often have a polymorphic character. A child can experience clonic (with a change of muscle tone), tonic (which is a fairly long muscular spasm) and generalized myoclonic cramps.

Often there are also seizures in the form of atypical absences - conditions in which the child's consciousness partially or completely does not react to the environment. The kid can at this time become numb, looking at one point, bending backwards, suddenly falling down or just dropping what he held in his hands.

Most often, these attacks occur during awakening, as well as during wakefulness (in a dream they are recorded only in 3% of patients with this diagnosis).

How do clinical manifestations of the Drave syndrome develop?

As a rule, Drave's syndrome is different in that the symptoms are manifested in a certain sequence. Physicians distinguish three main periods of the disease.

1. Relatively soft period, with the manifestation of clonic convulsions (rapid muscle contractions, following one after another, after a short period of time). As a provocative situation, as a rule, the temperature rises in the child, but in the future they can arise already and independently of it.
2. Aggravating aggressive - with the advent of numerous myoclonic seizures. They are often febrile (i.e., temperature-dependent) and spread to the trunk and limbs. Myoclonic seizures are joined by atypical absences and complex focal seizures.
3. Static period, in which attacks worsen, and the child has serious neurological and mental disorders.

The main signs of severe myoclonic epilepsy of childhood

As we have already said, due to the fact that the Drava syndrome is a rare disease, specialists often find it difficult to diagnose it. Therefore, it is important for parents to provide accurate information about the development of the pathological state of their child. This syndrome can be suspected if the following signs are available:

• The disease developed until the age of one year;
• Attacks are polymorphic (that is, their manifestations are diverse);
• The seizure is not stopped by the use of typical anticonvulsants;
• The occurrence of convulsions is tied to an increase in the body temperature of the child;
• The baby is markedly lagging behind in development (this sign can be expressed in different degrees);
• Manifestations of ataxia (uncoordinated movements);
• MRI indications do not confirm the presence of pathology (especially at the onset of the disease);
• On EEG - slowing of the background rhythm and multifocal disorders, represented by spikes and slow oscillations.

In addition to the listed symptoms for children with the Drave syndrome, as a rule, there is the presence of hyperactivity and attention deficit.

Forecast of the development of the Drava syndrome

The prognosis of severe myoclonic epilepsy is usually unfavorable. In all patients with diagnosed Drava syndrome, mental retardation is observed, and in half of cases it is severe. After four years of age, patients develop progressive deterioration, with the development of behavioral abnormalities, including psychoses.

Unfortunately, the lethal outcome of the described pathology is also very high - up to 18%, and its causes are most often accidents during seizures or status epilepticus.

In order to reduce the risk of severe consequences during a seizure in a child, parents should be well aware of how first aid is provided with seizures.

How to provide first aid for convulsions caused by fever?

If a child has seizures in response to a fever (which, as you remember, is one of the main symptoms for this disease), observe the following rules:

• Put the child on a flat surface;
• Provide fresh air access;
• Clean the baby's mouth of mucus;
• Turn the child's head to one side;
• Conduct antipyretic measures.

If the child has a pronounced fever, that is, the forehead is hot and his face reddened, then first aid in convulsions should be aimed at lowering the temperature (cold wet compress to the forehead, cold to the axillary cavities and into the groin area, rubbing the body with water and vinegar in proportion 1 : 1, antipyretic drugs).

If the baby has a pale, bluish lips and nails, chills, cold feet and palms, then rubs and cold compresses should not be done against the background of fever. The baby should be warmed, give antipyretics, as well as tablets "No-shpa" or "Papaverin" at the rate of 1 mg per 1 kg of weight for vasodilation.

Help with deployed epileptic seizures

In the event of a detailed epileptic attack with generalized clonic and tonic convulsions of the child, it follows:

• Lay on a flat surface;
• Under the head to put something soft, so that the baby does not beat it;
• Ensure fresh air intake;
• Cleanse the mouth and throat of mucus;
• Turn your head to one side;
• Tie any piece of cloth into a knot and insert it between the teeth, to prevent biting of the tongue and lips, since a child in a year can about harder things (a spoon, a stick) to break his teeth;
• Wipe the foam from the mouth with a towel;
• To watch, that during an attack the kid did not hit something.

If the cramps take the form of a status, you should always call an "ambulance".

Basic principles of treatment of children with the Drava syndrome

Treatment of a sick child in the described disease is reduced to the reduction of seizures and the prevention of the development of their status form.

With the diagnosis of "Drave Syndrome", the treatment excludes the use of well-known antiepileptic drugs: "Carbamazepine", "Finlepsin", "Phenytoin" and "Lamotrigine", since they only worsen the patient's condition, aggravating the current forms of seizures.

In addition to mandatory medication, it is important to remember and prevent the increase in body temperature, since this is a particularly dangerous condition for the patient. To avoid provoking attacks with light stimulation, he is offered to wear glasses with blue glasses or one glued glass.

Drug therapy for Drave syndrome

When the diagnosis is confirmed, the starting treatment begins with the use of Topiramate. He is prescribed a dose of 12.5 mg / day, gradually increasing it to 3-10 mg / kg / day. (The medicine is taken twice a day). This remedy is especially effective in cases when the described childhood epilepsy is manifested by generalized convulsive attacks and paroxysms with switching seizures from one half of the body to the other (hemiconvulsions).

The following preparations for monotherapy are the derivatives of valproic acid (syrup "Convulex", "Convulsofin", etc.) - especially effective at atypical absences and myoclonus, as well as barbituric acid ("Phenobarbital"), used in generalized convulsions, with a tendency To the status stream. By the way, in this case, high efficiency of bromide application was noted.

If necessary, use a combination of drugs. The most effective of them is the combination of valproate with topiramate.