Among the various manifestations of childhood epilepsy, Dravet's syndrome occupies a special place and is perhaps the most severe and life-threatening pathology for a child. This syndrome manifests itself already in the first year of a 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 methods of treatment later in the article.
In what cases is it said to have Dravet's syndrome?
Drave's syndrome is not common - it is noted that 1 person per 40 thousand newborns is affected by this pathology (moreover, boys make up 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, precious time is lost. And with the named syndrome without maintenance therapy, the condition of the child,tends to worsen with age.
drugs, you can suspect Dravet syndrome.
Children often experience multiple attacks throughout the day, and this condition lasts for about a week. After that, there is a lull for a couple of weeks, and everything repeats again.
Status epilepticus in Dravet syndrome is quite common. It may be accompanied by convulsions or be non-convulsive, in the form of a disturbance of consciousness of varying intensity with segmental myoclonus (rapid muscle twitches).
Dravet Syndrome: Causes
The main cause of the described syndrome, researchers call a genetic predisposition, namely, the presence of a sodium channel mutation in the patient's genes.
The provocative factors for the onset of the development of the described condition in infants are most often an increase in body temperature during any illness, taking a hot bath, overheating. It can also be severe fatigue or light stimulation (flashing lights, going from dark to brightly lit, etc.). It should be noted that all this and in subsequent years of the patient's life will be dangerous for him, causing seizures of varying strength.
Drave Syndrome: Symptoms
To the mainmanifestations of Dravet's syndrome can be attributed to 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.
Convulsions in Dravet syndrome are often polymorphic. A child per year may experience clonic (with a change in muscle tone), tonic (which is a rather prolonged muscle spasm) and generalized myoclonic convulsions.
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. The baby may at this time become numb, looking at one point, bend back, suddenly fall, or simply drop what he was holding.
Most often, the listed attacks occur during awakening, as well as during wakefulness (in sleep, they were recorded only in 3% of patients with this diagnosis).
How do the clinical manifestations of Dravet's syndrome develop?
As a rule, Dravet's syndrome is distinguished by the fact that these symptoms appear in a certain sequence. Doctors distinguish three main periods of the disease.
- A relatively mild period, with the manifestation of clonic convulsions (rapid muscle contractions, following one after another, after a short period of time). As a provoking situation, as a rule, an increase in temperature inchild, but in the future they may occur already and independently of her.
- Increasing aggressive - with the appearance of numerous myoclonic convulsions. They are most often febrile (i.e., dependent on temperature rise) in nature and spread to the trunk and limbs. Myoclonic seizures are joined by atypical absence seizures and complex focal seizures.
- A static period in which seizures subside and the child remains severely neurologically and mentally impaired.
Main signs of childhood severe myoclonic epilepsy
As we have already said, due to the fact that Dravet's 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 signs are present:
- disease developed before the age of one;
- seizures are polymorphic (i.e., their manifestations are varied);
- seizure does not stop with typical anticonvulsants;
- the occurrence of seizures is tied to an increase in the temperature of the child's body;
- the baby has a noticeable developmental delay (this symptom can be expressed to varying degrees);
- manifestations of ataxia (discoordination of movements) are expressed;
- MRI readings do not confirm the presence of pathology (especially at the beginning of the disease);
- on the EEG - slowing down of the background rhythm and multifocal disturbances,represented by spikes and slow swings.
In addition to these symptoms, children with Dravet syndrome are usually characterized by the presence of hyperactivity and attention deficit.
Prognosis for the development of Dravet's syndrome
Prognosis for severe myoclonic epilepsy is generally poor. All patients diagnosed with Dravet syndrome have mental retardation, and in half of the cases it is severe. After four years of age, patients experience progressive deterioration, with the development of behavioral abnormalities, including psychosis.
Unfortunately, the lethal outcome in 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 serious consequences during a seizure in a child, parents should have a good understanding of how first aid is given for seizures.
How to give 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 signs of this disease), follow these rules:
- lay baby on a flat surface;
- provide fresh air;
- clear baby's mouth of mucus;
- turn baby's head to the side;
- take antipyretic measures.
If the child has a pronounced fever, that is, the forehead is hot, and the facereddened, then first aid for convulsions should be aimed at lowering the temperature (cold wet compress on the forehead, cold to the armpits and in the groin area, rubbing the body with water and vinegar in a 1: 1 ratio, antipyretics).
If the baby has pale skin, bluish lips and nails, chills, cold feet and hands, then rubdowns and cold compresses should not be done. The baby should be warmed, given antipyretics, as well as No-shpa or Papaverine tablets at the rate of 1 mg per 1 kg of weight to dilate blood vessels.
Help with extended epileptic seizures
In the event of an extended epileptic seizure with generalized clonic and tonic convulsions of the child, you should:
- lay on a flat surface;
- put something soft under the head so that the baby does not beat it;
- provide fresh air;
- clear the mouth and throat of mucus;
- turn your head to the side;
- tie any piece of fabric into a knot and insert it between the teeth to prevent biting of the tongue and lips, since a child a year old can break his teeth on harder objects (spoon, stick);
- wipe foam from mouth with towel;
- make sure that during an attack the baby does not hit something.
If convulsions take the form of status, you should definitely call an ambulance.
Basic principles for the treatment of children with Dravet's syndrome
Treatmenta sick child with the described disease is reduced to a decrease in seizures and prevention of the development of their status form.
When Dravet's syndrome is diagnosed, treatment excludes the use of well-known antiepileptic drugs: Carbamazepine, Finlepsin, Phenytoin and Lamotrigine, as they only worsen the patient's condition, aggravating the course of existing forms of seizures.
In addition to the mandatory drug therapy, it is important to remember about the prevention of fever, since this condition is especially dangerous for the patient. To avoid provoking attacks by light stimulation, he is suggested to wear glasses with blue lenses or one sealed glass.
Drug therapy for Dravet syndrome
When the diagnosis is confirmed, the initial treatment begins with the use of Topiramate. It is prescribed at 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 where the described childhood epilepsy is manifested by generalized convulsive seizures and paroxysms with switching convulsions from one side of the body to the other (hemiconvulsions).
The following drugs for monotherapy are derivatives of valproic acid (syrup "Konvuleks", "Konvulsofin", etc.) - especially effective for atypical absences and myoclonus, as well as barbituric acid ("Phenobarbital"), used for generalized convulsions, with a tendency to a status course. By the way, in this case, a highbromide efficiency.
If necessary, use a combination of drugs. The most effective of them is the combination of valproates with Topiramate.
