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Dejerine Syndrome

 
, medical expert
Last reviewed: 18.10.2021
 
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Under the syndrome Dejerine means a disease that occurs rarely. It is based on a genetic predisposition. Dejerine's syndrome is also called hypertrophic neuropathy. You can immediately say that the disease is incurable, because all diseases caused by various mutations and changes in the genes can not be cured.

The first description of the disease belongs to the French neurologist Dezherin, who initially assumed that the disease roots deep in genetics. He noted that the disease is transmitted from generation to generation, observed within the same family. He also conducted experimental studies that allowed us to conclude that the transmission of the disease corresponds to dominant genes. Thus, in genetic counseling, it is possible to predict in advance whether a child will be born healthy, or Dejerine's syndrome will develop.

Unfortunately, it is impossible to prevent its development in any way. If the disease is transmitted to the child, it will inevitably develop.

trusted-source[1], [2], [3], [4]

Epidemiology

There are many varieties of Degerin syndromes at present. However, all of them have similar features - they appear at the age from birth to 7 years. At the same time in the first year of life, approximately 20% of cases occur. In the second year of life, the disease makes itself felt in 16% of cases.

The frequency of occurrence is dominated by Dejerine-Sotta syndrome. It is recorded in about 43% of cases. Approximately in 96% of cases ends with a complete disability, a person is chained to a wheelchair.

The second place belongs to the Dejerine-Clumpke syndrome, it occurs in about 31% of cases. The third place is allocated to the Dezherin-Rousseau syndrome, the frequency of which is about 21% of cases. At the same time, Dezherin-Russi syndrome is characterized by the formation of stable symptoms throughout the year in those patients who have suffered a stroke, or other impairment of cerebral circulation in acute form.

Pain syndrome is formed unevenly. Approximately 50% of patients have pain within 1 month after the stroke, 37% - from 1 month to 2 years, 11% - after 2 years. Paresthesia and allodynia are registered in 71% of patients.

trusted-source[5], [6], [7], [8]

Causes of the dezherin syndrome

The main cause of Dezherin's syndrome is a gene mutation, which is transmitted by an autosomal-genetic type. At the same time, numerous genetic factors can influence the formation of pathology. They affect the person, his brain. The main causes of the disease include:

  • injury, damage, other negative effects. Especially it concerns the cranial nerves. Also, the disease can be a consequence of brain concussions;
  • fractures of bones located at the base of the skull;
  • inflammation of the meninges, which manifests itself in an acute form. Inflammation can be of a different nature. It can be caused by infectious agents, inflammation, allergic reaction. Also, the development of the syndrome may be a consequence of trauma;
  • inflammation of the meninges of various nature, which has passed into a chronic form;
  • increased intracranial pressure.

trusted-source[9], [10], [11]

Risk factors

There are certain risk factors that can provoke the disease. People exposed to these factors are more prone to disease than others. Risk factors also include some diseases that accompany pathology.

Patients suffering from brain tumors belong to the risk group. A tumor can be considered a risk factor, which exerts pressure on the medulla oblongata. Also in this group are various tuberculomas, vascular injuries, as well as sarcoidosis. Damage to the brain occurs as a result of pressure on the brain. Damage to the vessels of the brain can have a different character. First of all, it concerns hemorrhagic lesions, emboli, thromboses, aneurysms, malformations.

Also, one of the factors contributing to the development of Dezherin's syndrome are co-morbidities such as polyencephalitis, multiple sclerosis, and poliomyelitis. Danger may also represent those diseases that are accompanied by a violation of the normal functioning of the brain, a violation of its blood supply. First of all it is necessary to be afraid of disturbances of a current of blood in an arterial channel. The risk group includes patients who are prone to blood supply disorders of the twelfth nerve, its nucleus, medial loop, pyramid.

The development of the disease is also facilitated by syringobulbia, bulbar paralyzes. These factors are a big risk, because they are characterized by constant progression.

Also, as a risk factor, tumors of the cerebellum of various types can be considered.

Congenital patients with congenital anomalies of the brain are classified as at risk. If a person with such an anomaly is exposed to infectious, toxic, degenerative agents, the risk of developing the disease significantly increases. Factors such as corrosive chemicals, radioactive substances can trigger the development of pathology. They can cause a gene mutation. Therefore, women exposed to toxic, chemical substances, as well as living in the zone of increased radiation, can get into a risk group. Predisposition to the disease in this case increases dramatically.

trusted-source[12], [13], [14], [15], [16], [17], [18], [19], [20], [21], [22], [23]

Pathogenesis

The pathogenesis of the disease is caused by a gene mutation. It contributes to the disruption of the structure of the shells of the stem nerves. With the development of the disease, there is an overgrowth of the connective membranes, which are part of the nervous tissue. As a result, connective tissue is hypertrophied, mucous substance is deposited between nerve compounds. This leads to a significant thickening of the nerve trunks, spinal roots and the cerebellar pathways. Their shape changes. Degenerative processes encompass nerve tissue and spinal nerves.

trusted-source[24], [25], [26], [27], [28], [29]

Symptoms of the dezherin syndrome

Dejerine's syndrome can manifest itself in completely different ways. It is necessary to understand that there are many varieties of this disease, and each of them manifests itself as absolutely unlike signs. Therefore, it makes sense to talk about the signs peculiar to each individual species of this syndrome.

At the same time, there are a number of early signs, which in general may suggest the probability of a child developing pathology. In the early stages, different species can have many similarities.

trusted-source[30], [31], [32], [33], [34], [35]

First signs

In most cases, the disease is already fully manifested in the preschool age. However, its first signs can be suspected almost from the birth of the child. If a child develops slower than his peers, this may be the first alarm sign. It is necessary to pay special attention to the child, who at the right age does not yet sit, late takes the first step, begins to move independently.

The appearance of the child can also tell a lot. Usually, the child has facial muscles. Hands and feet are gradually beginning to deform. They become less sensitive, practically do not react to anything. This condition can worsen all the time, until the muscles atrophy.

As soon as the child begins to develop incorrectly, you need to see a doctor. Consultation of the neurologist is necessary.

During the examination, the doctor discovers additional signs that indicate the syndrome. There is a fibrillar twitching of the musculature. Many tendon reflexes do not appear. Pupils can be narrowed and in most cases do not respond to light. The doctor confirms signs of weakening of the mimic muscles.

trusted-source[36], [37], [38], [39], [40]

Stages

Distinguish the easy (initial) stage, medium, heavy. At the initial stage, the first signs of the disease appear. This stage is usually at infancy.

The middle stage is a pronounced retardation of verbal and motor development, various motor disorders, impaired sensitivity, loss of some reflexes, disturbance of visual responses.

Severe stage - sensorineural deafness, skeletal deformities, muscle tone disorder, nystagmus. Progression of the disease. Ends with disability.

Forms

There are a great many varieties of Dejerine's syndrome, depending on the type and severity of the lesion. The most common are alternating syndrome, Dejerine Sott syndrome, Dejerine Klumpke syndrome, Dejerine Rousse syndrome.

trusted-source[41], [42]

Alternating Dezherin Syndrome

If a child has an alternating syndrome, his tongue is paralyzed first. And not all language is affected, but only part of it. The hemiparesis develops on the opposite side. Sensitivity to vibration reaches deep layers. Tactile sensations the child practically does not distinguish. The cause is thrombosis or occlusion of the basilar artery. It is this that breaks the innervation and blood supply of the medulla oblongata.

trusted-source[43], [44], [45], [46]

Syndrome Dejerine Klumpke

With the Dejerine Clumpke syndrome, the lower branches of the humerus are paralyzed. Paralysis is not the entire limb, but only a part of it. Gradually develops paresis and paralysis of the hands. Sharply decreases the sensitivity of the relevant areas. The state of the vessels changes. Pupillary reactions are abnormal.

Paralysis gradually spreads to the deep layers of the muscular framework. There is a strong numbness. First, the hands become numb, then the forearms, elbows. In severe cases, even the thoracic nerve can be affected. Also, numerous ptosis and miosis develop.

Syndrome of Dejerine Russi in the water

For this syndrome, lesions of perforating arteries are inherent. Also, areas around the artery, and those areas of the brain that are innervated by the affected artery, are damaged. Also this syndrome is called chronic pain syndrome, or syndrome of thalamic (post-stroke) pain.

This name is explained by the fact that the syndrome is accompanied by intense pain, constant, piercing. Pains are often unbearable. Also, the disease is accompanied by a feeling of aches, twisting the whole body. Hyperpathy is also observed, as a result of which some muscles come in excessive tone. However, the sensitivity is sharply reduced. Also for the disease are characterized by attacks of panic, unnatural crying, screaming, or laughing.

In this case, the damage is mainly one side. It can be one leg, or one arm. In the affected areas, first of all, severe pain, burning sensation is observed. The pain is exhausting the patient. May intensify under the influence of various factors. Pain can strengthen both positive and negative emotions. Under the influence of heat, cold, various movements, pain can also increase.

Often the disease can be difficult to differentiate, separate from other diseases. It has many features similar to other neuralgic lesions. Sometimes it is possible to establish definitively only after the pain syndrome is completely formed.

Syndrome of Dejerine Sott

Syndrome Dejerin Sotta is a type of disease. The disease is genetic. In the course of this disease, the thickness of the stem nerves is disturbed. The disease can be diagnosed at the earliest stages of pregnancy through genetic counseling. At birth, the child is no different from a healthy child. Then, as it grows and develops, it becomes apparent that the child is developing very slowly. Scant movements, speech is not formed. Muscles are very relaxed, the child is not able to hold the head, neck, trunk. Visual reactions are disrupted. The child lags behind in development from peers. Progressive decrease in sensitivity, the muscles gradually atrophy. There is no full development. Gradually, atrophy passes to the bone system. Ends with disability.

Neri Dejerine Syndrome

With Neri Dejerin's syndrome, the posterior roots of the spinal cord are constantly irritated. The reason for this is osteochondrosis, various tumors that affect the brain, and press on it. Hernias, pinches, injuries also contribute to pressure on the roots. In addition, it can occur because of strong bone growths. The main manifestation is severe pain in the place where there is pressure on the brain and its roots.

In most cases, this syndrome is not the main, but concomitant, with various other pathologies and diseases. For example, traditionally accompanies osteochondrosis. A distinctive feature is a sharp pain in the lumbar region, and a drawing pain in the neck, head, which prevents the person from lifting his head completely from a lying position. Gradually, this zone hardens, the sensitivity is gradually lost. There is also a muscle spasm. Gradually the limbs are subjected to pathological changes.

Syndrome Landuzi Dejerine

A synonym is myopathy. The name of the disease indicates a weakening of the muscles, which is progressing all the time. Parallel development of various pathologies in muscles, dystrophic processes is observed. We can say that this is not a separate disease, but a whole group of diseases. Affects shoulder, shoulder and face. The disease is a genetic pathology, transmitted from generation to generation.

It develops in several stages. At the first stage mimic weakness develops, as a result of which facial muscles not only weaken, but also lose shape, distort. As a result, the person acquires the wrong, distorted features. Most often, the disease can be recognized by rounded mouth and lowered lower and upper lip.

Gradually, the disease is so progressive that a person can no longer shut his mouth. He leaves his mouth open at first during sleep, then even in the daytime. Gradually, muscle weakness affects the muscles of the shoulder girdle.

In rare cases, the musculature of the pharyngeal muscles and the tongue may be weakened. But this sign has no diagnostic value and is not as pronounced as the other signs.

At the most difficult stage, the person develops weakness of skeletal muscles. First of all, weaken hands, then legs. The forecast is disappointing - disability.

Complications and consequences

Dejerine's syndrome is not treated. Ends with disability. A person is confined to a bed or a wheelchair.

trusted-source[47], [48], [49], [50], [51], [52]

Diagnostics of the dezherin syndrome

Diagnosis of Dezherin's syndrome is possible for those symptoms and clinical manifestations that are characteristic of the disease. In some cases, the picture is so pronounced that it is possible to suspect the disease even on the basis of an examination. But in fact, everything is much more complicated. Similarly, other neurological diseases can manifest themselves. Therefore, it is important to immediately analyze the available clinical signs, to analyze the data of subjective and objective examination. The final conclusion is made on the basis of laboratory and instrumental studies. It is also necessary to study the medical history, family history.

trusted-source[53], [54], [55], [56]

Analyzes

Confirm the diagnosis of Dezherin's syndrome is possible on the basis of an analysis of cerebrospinal fluid, biopsy. As a result of the study of cerebrospinal fluid, it is possible to detect a large number of proteins, protein fragments. They are the hallmark of Dejerine's syndrome.

In some cases this is enough to accurately establish the diagnosis. But sometimes there are doubts. For example, if the protein fragments in the cerebrospinal fluid are small, this may indicate other neurological diseases. Therefore, in such doubtful cases, a biopsy is performed. For biopsy, the collection of nerve fibers is required. They are taken from the ulnar and calf muscles. The Degerin syndrome accurately indicates the presence of hypertrophy of nerve tissues. With this pathology, the nerve fiber shells sharply thicken.

In addition, as a result of studying the nerve tissues under a microscope, it can be established that in them not only the shells thicken, but also the number of the fibers is substantially reduced. Demineralization also occurs. The number of nerve fibers is reduced.

trusted-source[57]

Instrumental diagnostics

But sometimes there are cases when even tests are not enough to be completely sure that a person has Dejerine's syndrome. Then special equipment is required. In most cases, computer and magnetic resonance imaging are used. These methods make it possible to discover how much the twelfth nerve is damaged. Then, after the results are obtained, the doctor selects the treatment. The purpose of therapy is a neurologist or neurosurgeon.

Differential diagnosis

The essence of differential diagnosis is to clearly separate the symptoms of one disease from another having similar manifestations. With Dejerine's syndrome, this is very important, since further forecast, treatment depends on this. Often this disease can be confused with other neurological diseases, paralysis.

Once the diagnosis is confirmed, it is necessary to differentiate it from other varieties, that is, clearly identify with what specific type of Dejerine syndrome it is necessary to deal with. Biopsy and analysis of cerebrospinal fluid can help in this.

The presence of Dejerine syndrome is indicated by protein in the cerebrospinal fluid and thickened nerve fibers during biopsy. A variety of the syndrome is usually determined by the clinical picture and pathognomonic signs, that is, the signs that are peculiar to a particular disease, unique to him, are his distinguishing feature.

Who to contact?

Treatment of the dezherin syndrome

Because the disease is genetic, you need to realize that it is completely cured and you will not be able to get rid of it. Most likely, the disease will progress, and it will not be able to stop it by any means. But this does not mean that you should not treat it. It is just necessary to choose the treatment most carefully and rationally. It can slow the progression of the disease, can significantly alleviate the patient's suffering.

In the selection of treatment are guided by the fact that etiological therapy is irrational. By etiological therapy is understood as treatment aimed at eliminating the cause. For genetic disease, it is impossible to eliminate the cause. Therefore, symptomatic therapy remains, that is, therapy aimed at removing the symptoms of the disease, alleviating the general condition, the patient's well-being. The treatment regimens can be completely different. It all depends on which symptom prevails, which worries the patient at the moment. In order to ensure the removal of symptoms and at the same time prevent the further progression of the disease, complex therapy is used.

The composition of complex therapy usually includes analgesics, because almost always the syndrome is accompanied by painful sensations. If there is no pain (which is rare enough), such drugs can be ruled out.

Metabolic therapy, which improves metabolic processes, improves the nutrition of tissues, eliminates metabolites, must be present. Basically, this type of treatment is aimed at maintaining muscle tissue, as it is very susceptible to degenerative processes, and can subsequently atrophy. The main goal of this therapy is to prevent atrophy.

Also need to use drugs to improve nerve conduction. They allow us to normalize metabolic processes in the nervous tissue, restore or maintain the sensitivity of nerve endings, and prevent the death of receptors.

In addition to medical treatment, physiotherapy can additionally be prescribed. You may need a course of massage, manual therapy, various means of non-traditional therapy. Currently, there are many different orthopedic products that give an opportunity to prevent the development of diseases of the skeleton. It is also possible to prevent the development of deformation of the feet. Contractures of joints can also be prevented with the help of orthopedic products.

Sometimes treatment can be directed to the elimination of the cause that triggered the disease. Naturally, in the event that this is not a genetic reason. For example, in some cases, a person has a genetic predisposition, but the disease does not appear. But then, as a result of the action of any factor, the disease begins to develop or progress. So, the cause can be thrombosis of the artery. The damaged artery compresses the adjacent area of the brain, violates its blood supply. In this case, it is advisable to try to eliminate the very reason - to remove thrombosis. In this case, surgical intervention may be required.

In other cases, supportive, permanent therapy is required.

Medications

Medications are used solely to eliminate syptmomas. For example, for the treatment of pain syndrome, it is recommended to apply kabrazepam in a dose of 3-5 mg / kg of body weight 2-3 times a day.

You can also recommend ketorolac at a concentration of 60 mg / day, 2 times a day. Trometamol is used at 60 mg / day, 2 times a day, ketonal - 50 mg 1-2 times a day, the maximum daily dose of 100-150 mg.

Vitamins

Vitamins are necessary for maintaining the general state of the body, for normalizing the immune system, protecting against infectious, and other diseases. Also, vitamins contribute to improving the overall well-being of the child. The main vitamins that are necessary for the normal functioning of the body (daily dosage):

  • B - 2-3 mg
  • PP - 30 mg
  • H, 7-8 μg
  • C 250 mg
  • D-20 μg
  • E is 20 mg.

Physiotherapeutic treatment

Physiotherapy treatment can not cure Dejerine's syndrome. But in some cases, physiotherapy can be used. Usually it is used for a specific purpose. Thus, electrophoresis significantly increases the permeability of tissues and can be used to ensure that the drugs penetrate faster and more efficiently into tissues. Some physiotherapy can reduce pain, relax muscles, and remove spasm. They can significantly improve the general condition of the body. Also, physiotherapy helps to remove the pain syndrome.

Alternative treatment

There are alternative means that help to alleviate the fate of the patient. It is impossible to cure Dejerine's syndrome, but this does not mean that you need to give up and do no effort to relieve or reduce symptoms. Alternative drugs help in overcoming symptoms, removing pain. They provide substantial psychological help and support to the patient. The disease can not be cured, but its progression can be slowed down.

With paresis, paralysis, weakening of facial muscles, it is recommended to use oats inoculum. Use the juice of green oats. Take inside a third cup twice a day. It is better to take before eating. Action - fortifying.

Paralysis and paresis makes it easier to use mint, lemon balm. It is recommended to brew them, make a decoction and drink in a warm form. These herbs are relatively safe, so they can be used in large quantities, but not uncontrollably. Approximately a liter per day is allowed. Also, these herbs can be added to taste in tea. Drink in unlimited quantities, according to taste and mood. Usually they allow the muscles to relax, as well as normalize the nervous system, they act soothingly.

Also mint and lemon balm can be mixed with mistletoe white, approximately in equal shares and used as a decoction. In this case, use should be in limited quantities, approximately 20-30 ml three times a day. This infusion makes it possible to eliminate spasms, pain, relax the muscles, calm the nervous system.

Good effect on the body baths with medicinal herbs. You can brew a bath from a string. For this purpose, approximately 2-3 liters of strong infusions are made, then it is poured into a bath of comfortable temperature. It is recommended to take a bath for 20-30 minutes. They make it possible to bring the muscles into tone, normalize the activity of the nervous system. Herbs can be combined, alternated. You can use a decoction of coniferous plants: pine, fir, cedar. You can add chamomile, lime, raspberry, nettle.

trusted-source[58], [59], [60], [61]

Herbal Treatment

If a person has impaired coordination, paresis and paralysis, you can use the grass of ephedra. It is used in the form of a decoction. Brew about 5 g of grass in 500 ml of boiling water. You can drink three times a day for 2-3 tablespoons.

Also, for the normalization of the muscles, calming, relieving spasms, pain, use a decoction or an infusion of valerian. The infusion of valerian alcohol can be sold commercially. The method of administration is usually indicated on the package.

To prepare the broth at home, about 5 g of grass is poured a glass of water and drink this broth during the day. You can also add to tea.

Similarly, a decoction of chamomile can be used. It additionally has an anti-inflammatory effect, normalizes the immune system, metabolism.

Decoction of calendula is recommended to use 1 tablespoon three times a day. It has anti-inflammatory effect, relieves swelling.

Homeopathy

Homeopathic remedies can also have a positive effect, improve the general condition of the body, remove individual symptoms. Side effects are rare, if the dosage, methods of administration are correctly observed. It is necessary to take into account that many substances possess accumulative effect, which means the effect will appear only after the completion of the full course of treatment, or after some time. It is necessary to observe the basic precautions: before going to consult with a doctor, because some substances may not be combined with each other, or with medications. The consequences can be unpredictable.

With flaccid paralysis, paresis, hyperkinesia, weakening of mimic muscles, it is recommended to take Siberian sekirinega. Approximately 15 g of crushed leaves and small branches are poured into 250 ml of boiling water. Insist to cool down. Filter, take a third cup, twice a day.

  • Collection number 1. With lesions of the medulla oblongata, the cerebellum

Take the leaves of raspberries, currants, valerian, motherwort in a ratio of 2: 1: 2: 1. Take in the form of infusion of a third cup three times a day.

  • Collection number 2. With spastic paralysis

Take leaves of lemon balm, chamomile, sage, mint ratio 1: 1: 2: 2. Take in the form of infusion three times a day for a third cup.

  • Collection number 3. With pain syndrome, spasms, paralysis

Take the leaves of stevia, nettles, cones of ordinary hops, flowers of echinacea in the ratio 2: 1: 1: 1. Take in the form of infusion three times a day.

Surgery

In some cases, only surgical intervention can help. For example, if a patient has any trauma, a tumor, it must be removed. Thrombosis or occlusion of the arteries may also require surgical intervention.

With the pathology of blood vessels, there is an effective minimally invasive intravascular surgical intervention.

If a certain artery is affected, it may be necessary to operate it to improve cerebral circulation, as well as to normalize the innervation of this site.

But in some cases, there are also such pathologies that are not subject to surgery. It can be various congenital anomalies, traumas.

Prevention

Specific prevention of the disease does not exist. The only method is a timely genetic consultation. If a gene mutation indicating Dejerine's syndrome is detected in the process, it is recommended that the pregnancy be interrupted.

trusted-source[62], [63], [64], [65], [66], [67], [68]

Forecast

The course of the disease is always progressive, the periods of remission are short. The outlook is unfavorable. This is due primarily to the fact that the main degenerative processes occur in the nervous system, the brain. As the disease develops, capacity is lost. Eventually, the patient is confined to a wheelchair, or bed.

trusted-source[69], [70]

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