Vesta Syndrome

Vesta syndrome is a syndrome of severe epilepsy, consisting of a triad of signs: infantile spasms, characteristic changes in the interictal period of the electroencephalogram (hypsarrhythmia) and mental retardation. The disease got its name due to the British doctor Vesta, who first described all his symptoms in 1841, watching his sick son. Also this disease is known under such names: gypsarhythm Gibsa, bowed spasms, spasm or tick of Salaam, myoclonic encephalopathy with gypsarhythmia.

Epidemiology

The incidence is about 1: 3,200 to 1: 3,500 live births. According to statistics, the syndrome develops more often in boys than in girls in a ratio of about 1.3: 1. In 9 of every 10 sick children, spasms appear for the first time between the 3rd and 8th month of life. In rare cases, seizures may occur within the first 2 months.

[1], [2], [3],

Causes of the vest syndrome

It can be attributed to a group of so-called encephalopathic epilepsy, when seizures occur against the background of non-inflammatory diseases of the brain.

This disease is most often found in early childhood and has many causes:

1. Congenital pathology in the development of the brain (for example, tuberous sclerosis).
2. Genetic diseases, gene mutations and metabolic disorders.
3. Infections of the brain.
4. Intracranial hemorrhages, hypoxia of the brain (especially in premature infants).
5. Asphyxia.

This last reason is considered the most common in the development of this dangerous syndrome. Asphyxia of the fetus often develops due to complicated delivery.

The role of genetic defects in the etiology of the Vest syndrome is discussed. Two genetic defects were identified. The first is a mutation in the short arm of the X chromosome. The ARX gene is associated with the early onset of infantile spasms. The second is a defect in the cyclin-dependent kinase and protein 5 (CDKL5).

Sometimes it is difficult to determine what exactly influenced the manifestation of the syndrome. Doctors, in such cases, diagnose idiopathic syndrome. Those patients who have no signs of disease, but there are changes in the EEG (or vice versa) are considered to be at 1 risk group. They do not need special treatment, but they are required to undergo an annual examination.

If there are major signs and changes in the EEG, then the patients are referred to the 2 risk groups. They are prescribed a certain treatment. They also undergo a bi-annual examination. The last group of risk is those who have pronounced symptoms and changes in the EEG.

[4], [5], [6]

Risk factors

Prenatal disorders associated with infantile spasms are as follows:

• Hydrocephalus.
• Microcephaly.
• Hydroencephalus.
• Shizentsefaliya.
• Polymicropathy.
• Sturge-Weber Syndrome.
• Tuberous sclerosis.
• Trisomy on 21 chromosomes.
• Hypoxic-ischemic encephalopathy.
• Congenital infections.
• Injuries.

Perinatal disorders, leading to the development of Vest syndrome, are as follows:

• Hypoxic-ischemic encephalopathy.
• Meningitis.
• Encephalitis.
• Injuries.
• Intracranial hemorrhages.

Postpartum disorders:

• Hyperglycemia.
• Disease of "maple syrup".
• Phenylketonuria.
• Mitochondrial encephalopathy.
• Meningitis.
• Encephalitis.
• Degenerative diseases.
• Deficiency of biotinidase.
• Injuries.

[7], [8], [9],

Pathogenesis

Infantile spasms are believed to arise from abnormal interactions between the cortex and the brain stem structures. In pathogenesis, the immaturity of the central nervous system and the feedback of the axis "brain-adrenals" are the main ones. Under the influence of various stress factors in the immature brain produces abnormal, excessive release of corticotropin-releasing hormone (CRH), resulting in spasms.

[10], [11], [12]

Symptoms of the vest syndrome

Among the symptoms of this disease should be allocated:

1. Frequent seizures of an epileptic nature. It is difficult to cure them.
2. Characteristic changes in this EEG (gypsarhythmia).
3. Distinctive disorders in psychomotor development.

Almost all children with Vest syndrome (90%) have symptoms almost immediately after birth (4 to 8 months). Seizures differ in a short duration, so it's not right to put the right diagnosis.

Syndrome Vesta is considered a serious disease that threatens the life of the patient. It is also called an infiltrative spasm.

The attack is always the same: the entire body of the child leans sharply forward, and the head is strongly bent. Such convulsions usually occur when the baby wakes up or when it is falling asleep. Thus attacks can be from ten up to hundred for one day.

Often during seizures, a child may lose consciousness. Because of them, infants have a lag in the development of psychomotor. Children with Vest syndrome react poorly to the environment, practically do not go into contact with relatives.

First signs

The first sign of an attack of Vest syndrome is a strong crying of a child, so often doctors put such babies diagnosed with colic. The standard signs of this disease include:

1. Strong slopes of the entire body forward.
2. Generalized convulsions in the lower and upper extremities, the entire body.
3. The limbs are involuntarily bred in the sides.

Usually, such an attack does not last more than one or two seconds. There comes a short pause and the attack resumes again. In some cases, spasms are single, but more often they go by turns.

Children with Vest syndrome are often highly irritable, lagging behind in development, varying degrees of severity. Breasts with these diseases behave often, like the blind.

[13]

Epilepsy with Vest syndrome

Vest syndrome is one of the variants of generalized epilepsy of a catastrophic nature. It can be symptomatic (in most cases) or cryptogenic (only up to 10% of all cases). The classical version of Vest syndrome can be characterized by pronounced salamove or myoclonic spasms. Sometimes spasms have the form of short serial nods of the head.

Epilepsy with Vest syndrome develops due to various neurological pathologies or without certain disorders in the central nervous system. Infantile spasms lead to a slow development of the child's mental and motor functions, which in the future may cause a marked lag in overall development.

In 80% of cases, children with Vest syndrome have infantile cerebral palsy, microcephaly, atonic and atactic disorders.

[14]

Encephalopathy with Vest syndrome

As already mentioned above, Vest syndrome is also known as myoclonic encephalopathy with gypsarhythmia. Gypsarhythm is a typical, but not pathognomonic, pattern of the encephalogram in patients with this disease.

Standard gypsarhythmia is characterized by continuous arrhythmic and high-amplitude slow wave activity, and also has numerous spikes and sharp waves. There is no synchronization between different departments of the hemisphere. Sometimes patterns can differ in amplitude asymmetry.

Gypsarhythm almost completely replaces the main background activity.

[15], [16], [17], [18],

Symptomatic Vest syndrome

Typically, in 75% of cases, Vest syndrome begins during the second or third quarter of the baby's life. The first months the development of the child seems quite normal and only then there are convulsions, which are pathognomonic first sign. Sometimes patients experience delayed psychomotor development. It is very rare to see changes in the EEG.

Myoclonia or muscle cramps affect almost the entire body. During such seizures, the body and limbs of the baby bend. Cramps and contractions in the flexor muscles can be bilateral, synchronous, sudden, symmetrical and last for a maximum of 10 seconds. Sometimes they are repeated up to a hundred times a day.

In some cases, a convulsive attack can affect only one group of muscles. Lower and upper limbs spasms during cramps, the head bends and rests on the chest. If the frequency of seizures is high, the child may fall asleep.

To date, there are three separate versions of the Vest syndrome, which differ from each other in the degree and nature of the damage to the muscles:

1. Nodulating - numerous flexion cramps (especially on the upper limbs and head).
2. Cervical spasms - the head throws back. Attacks last up to ten seconds with a one-second break.
3. Common convulsions are cramps all over the body. The head "lays down" on the chest, and the limbs are diverted.

Children with Vest syndrome immediately after birth or after six months have a lag in motor and mental development. Frequent cramps only aggravate the situation.

Cerebellar syndrome with Vest syndrome

In some cases, with cerebrovascular syndrome, cerebellar syndrome may occur. This is a defeat of the cerebellum or a violation of its connections with other parts of the brain. The main signs of cerebellar syndrome:

1. Intense trembling of the fingers (especially during movement).
2. Adidochokinesis.
3. Lethargy and flabbiness of the muscles.
4. There is a symptom of the absence of a backward impulse.
5. Systemic dizziness.

[19]

Complications and consequences

The course of the Vest syndrome is quite severe in almost all cases, as it is manifested by severe brain disorders. Very rarely, this disease can be treated with conservative treatment. But usually, even after effective therapy, relapses appear over time.

Almost always after recovery of the patient, serious and rather severe neurological residual phenomena are noted: epilepsy and its equivalents, extrapyramidal manifestations. Also, patients develop mental disorders: idiocy or mild dementia.

Only in 2% of cases (according to Gibbs) spontaneous complete recovery occurs.

[20], [21], [22], [23]

Diagnostics of the vest syndrome

Diagnosis of Vest syndrome is carried out with the help of such doctors: neurosurgeon, epileptologist, neurologist, pediatrician, immunologist, endoscopist and endocrinologist. Thanks to the use of modern devices, a more accurate diagnosis can be made. Usually used: radiomagnetic and computed tomography, cranioscopy (in very rare cases), cerebroangiography. Neurophysiological examinations are also performed to reveal the pathological focus of epileptic seizures.

The most popular methods for diagnosing Vest syndrome are: electroencephalography and gas encephalography.

Thanks to electroencephalography, it is possible to detect the hypsarhythmy of biological curves:

1. Amplitude of biological curves is irregular.
2. No synchronization of the main curves. There may appear "peak curves" during sleep or wakefulness.
3. Low efficiency of light stimulation.

In some cases, with the help of gas encephalography, one can see the expansion of the ventricles of the brain. In the later stages of the Vest syndrome hydrocephalus is noted.

[24], [25], [26], [27], [28]

Differential diagnosis

Vest syndrome can be differentiated as with non-epileptic diseases, which are frequent in infancy (colic, motor anxiety, infantile masturbation, hyperexpension, respiratory attack), and with some epileptic syndromes (for example, focal epilepsy). Electroencephalography plays a very important role in differential diagnosis.

[29]

Treatment of the vest syndrome

Treatment is individual in each case and depends on the cause that caused the Vest syndrome and the state of brain development.

The main method of treatment for Vest syndrome today is steroid therapy with adrenocorticotropic hormone (ACTH) (Sabril, vigabatrin). But such treatment should be extremely cautious and under strict medical supervision, as both steroid drugs and vigabatrin have many serious side effects. It is also necessary to select suitable anticonvulsants, as well as medicines that will help to normalize the blood supply to the brain.

Sometimes a neurosurgeon should perform an operation during which the spicules of the medullary membrane dissect and the pathological focus with congenital aneurysms of the vessels is removed. This procedure is carried out through stereotaxic surgery and various endoscopic methods. A new and rather expensive method of therapy for Vest syndrome is the use of stem cells. It is considered effective, but unpopular because of the high cost of the procedure.

The essence of this method is that the damaged area of the brain is restored with the help of stem cells.

The idiopathic form of the Vest syndrome is usually treated with the help of special medications:

1. Anticonvulsant - for example, Epilim, Nitrazepam, Depakote (valproate), Topamax (Topiramate), Zonegran (Zonisamide), Onfi (Klobazam) or Klonopin (clonazepam) ..
2. Steroid hormone medicines - for example, Hydrocortisone, Prednisolone, Tetrakozaktid.
3. Vitamins - for example, vitamin B6 (pyridoxine).

Therapy is effective if the number and frequency of seizures decreases. With properly selected therapy in the future, the child will normally develop and learn.

But it is worthwhile to understand that even modern drugs carry many side effects:

1. Violation of concentration.
2. Fatigue.
3. Allergic skin reactions.
4. Depression.
5. Nervous lesions.
6. Liver failure.

LFK with Vest syndrome

Therapeutic physical training in Vesta syndrome should be conducted under the strict supervision of a rehabilitologist and a sports medicine doctor, so as not to aggravate seizures. This method of therapy is quite popular, but does not give effective results without a complex of medications.

Cases of recovery

The absence of seizures for a long time with Vest syndrome can not say that the disease has passed into the stage of remission. But some doctors believe that if spasms, convulsions, gypsarhythmia and changes in the EEG were not seen within a month, then this can be considered a recovery. Unfortunately, to date, such cases are quite rare. According to some sources, only 8% of all patients are cured completely, according to Gibbs this amount is only 2%.

[30], [31], [32]

Prevention

The main measure of prevention of Vest syndrome is its timely diagnosis and proper treatment. Epileptic seizures, which are considered the main symptom of this disease, must be stabilized.

[33], [34], [35], [36]

Forecast

The overall prognosis for the development of the Vest syndrome is rather difficult to predict, since there are different reasons for its occurrence. So, for example, with an idiopathic syndrome, the prognosis is more favorable than in the case of a symptomatic syndrome.

This can be explained by the fact that the idiopathic form of this disease is much easier: the frequency and strength of attacks are less, the child is not so much behind in development. Usually, the disease in these babies is transformed into other forms of epilepsy. In the future, about 40% of these children do not differ from their peers.

In other cases, treatment is more complicated, and its results are less effective. If children with a symptomatic form of Vest syndrome are found to have intolerance to drugs, then the therapy becomes more complicated. Fewer than 50% of such patients achieve remission. According to the results of the research, only 30% of patients are completely or almost completely cured with the help of medicines.

Unfortunately, 90% of all patients with Vest syndrome are physically or mentally retarded, regardless of the effectiveness of the treatment. This is because convulsions often irreversibly break some parts of the brain.

60% of all children who contracted Vest syndrome in the future have any form of epilepsy. Sometimes the disease becomes Lennox-Gastaut syndrome.

Favorable prognostic factors:

• Cryptogenic or idiopathic etiology.
• Development of the disease at the age of more than 4 months.
• Absence of atypical seizures.
• Absence of asymmetric anomalies of EEG.
• Efficacy of the treatment.

According to the research, 5% of children with Vest syndrome do not survive to five years. Death occurs because of illness or because of side effects of treatment. A fifth of the patients die within the first year, since congenital pathologies of the brain are not compatible with life.