Among the various manifestations of childhood epilepsy, Dravae syndrome occupies a special place and is perhaps the most severe and life-threatening pathology. This syndrome manifests itself already in the first year of the baby’s life and often leads to a serious violation of his psychomotor development, and in some cases to death. We will talk about this rather rare disease, its main symptoms and treatment methods later in the article.
In what cases are they talking about the presence of Drave syndrome?
Drava syndrome is not common - it is noted that 1 person per 40 thousand newborns is affected by this pathology (moreover, boys account for about 66% of the number of cases). But this, by the way, leads to the fact that doctors sometimes find it difficult to establish the correct diagnosis and, thus, valuable time is lost. And with the aforementioned syndrome without maintenance therapy, the condition of the child, as a rule, worsens with age.
If a child under the age of one has frequent seizures that have a serial or status course (that is, they follow one after the other, and the patient does not regain consciousness in between) and, moreover, resistant to the action of anticonvulsants, one can suspect the syndrome Drave.
At the same time, children often experience multiple attacks throughout the day, and this condition lasts about a week. Then for a couple of weeks there is a lull, and everything repeats again.
Status epilepticus with Drava syndrome is a fairly common occurrence. It can be accompanied by convulsions or be convulsive, in the form of a disturbance of consciousness of different intensity with segmental myoclonia (fast muscle twitching).
Drave syndrome: causes
The main reason for the occurrence of the described syndrome, researchers call a genetic predisposition, namely, the presence of a sodium channel mutation in the genes of the patient.
The provoking factors for starting the development of the described condition in infants are most often an increase in body temperature during any disease, taking a hot bath, or overheating. It can also be severe fatigue or stimulation with light (flashing light, transition from a dark room to a bright one, etc.). It should be noted that all this in the subsequent years of the patient’s life will be dangerous for him, causing attacks of different strengths.
Drave Syndrome: Symptoms
The main manifestations of Dravae syndrome include both focal and generalized epileptic seizures. Focal seizures differ in that the area of excitation that provokes their occurrence is located in only one part of the brain. In the case of the development of pathological activity of neurons in both hemispheres, we are talking about generalized seizures.
Seizures in Drave syndrome are often polymorphic. A child can experience clonic (with a change in muscle tone), tonic (representing a rather long muscle spasm) and generalized myoclonic seizures per year.
Often there are seizures in the form of atypical absences - conditions in which the child's consciousness partially or completely does not respond to the environment. At that time, the baby may become numb, looking at one point, bend backward, suddenly fall, or simply drop what he was holding in his hands.
Most often, the listed seizures occur during awakening, as well as during wakefulness (in a dream they were recorded only in 3% of patients with this diagnosis).
How do the clinical manifestations of Dravae syndrome develop?
As a rule, Drave syndrome is characterized in that the named symptoms appear in a certain sequence. Doctors distinguish three main periods of the disease.
- Relatively mild period, with the manifestation of clonic seizures (rapid muscle contractions, one after the other, after a short period of time). As a provocative situation, as a rule, an increase in the temperature in the child appears, but in the future they can occur already and independently of it.
- Growing aggressive - with the appearance of numerous myoclonic seizures. They are most often febrile (i.e., dependent on fever) and extend to the trunk and limbs. Atypical absences and complex focal seizures join myoclonic seizures.
- The static period in which the attacks subside, and the child remains severe neurological and mental disorders.
The main signs of childhood severe myoclonic epilepsy
As we have already said, due to the fact that Drave 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 condition of their child. The named syndrome can be suspected if the following symptoms are available:
- the disease developed before the age of one;
- seizures are polymorphic (i.e., their manifestations are diverse);
- the seizure is not stopped by taking typical anticonvulsants;
- the occurrence of seizures is associated with an increase in the body temperature of the child;
- the baby noticeably lags in development (this symptom can be expressed to varying degrees);
- manifestations of ataxia (uncoordinated movements) are expressed;
- MRI readings do not confirm the presence of pathology (especially at the beginning of the disease);
- on EEG - slowing down of the background rhythm and multifocal disturbances represented by commissures and slow fluctuations.
In addition to the listed symptoms, children with Dravet syndrome are usually characterized by hyperactivity and attention deficit.
The prognosis of the development of Drave syndrome
The prognosis of severe myoclonic epilepsy is generally poor. All patients with diagnosed Drave syndrome have a mental retardation, and in half the cases it is severe. After four years of age, patients have a progressive deterioration, with the development of behavioral abnormalities, including psychosis.
Unfortunately, the lethal outcome with the described pathology is also very high - up to 18%, and accidents during seizures or status epilepticus most often become its causes.
In order to reduce the risk of serious consequences during a seizure in a child, parents should be well aware of how first aid is provided for seizures.
How to provide first aid for cramps caused by fever?
If a child develops cramps in response to an increase in temperature (which, as you remember, is one of the main signs for this disease), observe the following rules:
- lay the child on a flat surface;
- provide access to fresh air;
- clean the baby's mouth from mucus;
- turn the child’s head to the side;
- conduct antipyretic events.
If the child has a pronounced fever, that is, the forehead is hot and the face is reddened, then first aid for cramps should be aimed at lowering the temperature (cold wet compress on the forehead, cold to the armpits and groin, wiping the body with water and vinegar in a proportion of 1 : 1, antipyretic drugs).
If the baby has pale skin, bluish lips and nails, chills, cold feet and palms against the background of elevated temperature, then rubbing and cold compresses should not be done. The baby should be warmed, given antipyretics, as well as No-Shpa or Papaverin tablets at the rate of 1 mg per 1 kg of weight to expand the vessels.
Help with advanced epileptic seizures
In the event of a developed epileptic seizure with generalized clonic and tonic seizures of the child, the following should be done:
- lay on a flat surface;
- put something soft under the head so that the baby does not fight with it;
- provide fresh air;
- clear the mouth and pharynx of mucus;
- turn your head to the side;
- tie any piece of tissue into a knot and insert it between the teeth to prevent biting of the tongue and lips, since a child can break its teeth on harder objects (spoon, wand) a year;
- wipe the foam emerging from the mouth with a towel;
- make sure that during the attack the baby does not hit something.
If convulsions take the form of status, you should definitely call an ambulance.
The basic principles of treatment for children with Drave syndrome
Treatment of a sick child with the described disease is reduced to the reduction of seizures and the prevention of the development of their status form.
With a diagnosis of Drave’s syndrome, treatment excludes the use of well-known antiepileptic drugs: Carbamazepine, Finlepsin, Phenytoin, and Lamotrigine, since they only worsen the patient’s condition, exacerbating the course of existing seizures.
In addition to the mandatory drug therapy, it is important to remember about the prevention of fever, as this condition is especially dangerous for the patient. To avoid provoking attacks by light stimulation, he is offered to wear glasses with blue glasses or one sealed glass.
Drug therapy of Drave syndrome
When the diagnosis is confirmed, the starting treatment begins with the use of the drug “Topiramat”. He is prescribed a dose of 12.5 mg / day., Gradually increasing it to 3-10 mg / kg / day. (medicine is taken twice a day). This remedy is especially effective in cases where the described childhood epilepsy is manifested by generalized seizures and paroxysms with switching seizures from one half of the body to the other (hemiconvulsions).
The following monotherapy drugs are valproic acid derivatives (Convulex syrup, Convulsofin syrup, etc.) - especially effective for atypical absences and myoclonus, as well as barbituric acid (Phenobarbital), used for generalized seizures, with a tendency to the status stream. By the way, in this case, the high efficiency of the use of bromides was also noted.
If necessary, use a combination of drugs. The most effective of them is considered a combination of valproate with Topiramat.