Diagnosis of multiple sclerosis in children

A very big problem in the diagnosis of multiple sclerosis by a doctor is that there is not a single sign that would clearly indicate multiple sclerosis in a patient. In total, there are about 700 signs of the disease, none of which is specific. All of them can be found in many other diseases. The correct diagnosis allows you to put only a set of certain signs and laboratory data.

Important criteria for making a diagnosis are the prolonged course of the disease with a gradual increase in all signs, the alternation of periods of improvement with periods of exacerbations, a wide variety of manifestations of the disease, and the characteristic distribution of these manifestations. Often, all signs of the disease can disappear on their own or during therapy and then reappear. The longest period of improvement in the patient’s condition (up to 1 year or more) is observed after the first exacerbation. Approximately one third of all sick periods do not have any improvement at all. Most often, the first exacerbation has only one manifestation, while the subsequent ones are manifested by a whole set of symptoms. A very common sign of another exacerbation is the development of paralysis, most often in the muscles of the legs. But for the most part, the manifestations of the disease are very unstable, some of them can disappear without a trace, and completely others develop in their place, which often occurs within a very short time.

There are a huge number of classifications of the disease, none of which is universal. The classification of the neurologist Poser is primarily based on the different nature of the lesions of the nerve sheaths.

According to her, there are two main types of multiple sclerosis:

1. Myelinoclastic type – this form affects the nerve sheaths, which are fully formed normally. This group includes such independent diseases as directly multiple sclerosis and Schilder’s disease . These are the so-called true demyelinating diseases, that is, leading to the destruction of the main substance of the nerve sheaths – myelin. 

2. Leukodystrophic type – with this form there is a congenital deficiency of some enzymes, as a result of which the metabolism in the nervous membranes is disturbed. These include: Crab disease Pelitseu-sa – Merzbacher , familial forms of multiple sclerosis. 

Currently, the following classification of all diseases occurring with damage to the nerve membranes is considered the most acceptable and clear:

I. Acute diseases:    

– primary (not associated with another pathology): disseminated encephalomyelitis;

– secondary (developing as a result of another disease):

a) developing after infections (most often measles, scarlet fever, etc.);

b) developing as complications of improperly produced vaccinations (most often against rabies, smallpox, etc.).

II. Subacute and chronic diseases:    

– directly multiple sclerosis:

a) typical forms (with damage to the brain and spinal cord);

b) atypical forms (with damage to the brain stem, spinal cord, cerebellum, resembling diabetes mellitus, with damage to the optic nerves);

– diffuse sclerosis.

III. False forms of multiple sclerosis:    

– recurring inflammatory;

– local, with damage to only one structure of the nervous system;

– as a result of degeneration of the nervous system.

In all cases, it can be very difficult to diagnose the disease. This is the task of experienced neurologists. We will consider the disease not in accordance with this classification, but depending on the lesion of certain formations of the nervous system.

Cranial nerve lesions. Most often, three nerves that come out of the cranial cavity are affected: the visual, oculomotor, outward, and the vestibular (associated with the organ of balance). Of these disorders, visual disturbances and eyeball movements are temporary and completely disappear outside of periods of exacerbation. In addition, very often the disease itself begins with these disorders. Eyeball movements are affected in more than half of all patients. Violations can be both very minor and lead to complete paralysis of the gaze, as a result of which eye movements become completely impossible.In all such patients, double vision is certainly noted. At the same time, the pupil’s reaction to light is completely preserved. In general, visual impairments in multiple sclerosis can be very different. In some cases, there is a decrease in visual acuity. Sometimes, some areas may fall out of the patient’s field of vision, in this case he “sees” dark spots. The field of vision can be narrowed from all or only from some sides, and when the patient looks to the affected side, he cannot see the surrounding objects. There may be not just a visual impairment, but a violation associated with certain colors.

In the process of increasing signs of the disease, some cerebral edema develops and inflammatory changes develop in its membranes, which further aggravates visual disturbances. In this period, the most informative is the examination of the fundus by an ophthalmologist, while characteristic signs of increased intracranial pressure are revealed.

Very often during multiple sclerosis, the vestibular nerve, which is responsible for the normal functioning of the organ of balance, is affected. In the patient’s condition, this is manifested by the occurrence of dizziness. Characterized by the appearance of the so-called vestibular symptom complex, which is manifested by dizziness, vomiting, twitching of the eyeballs and develops in more than half of patients with multiple sclerosis. A very common symptom is eyeball shaking , which occurs at rest and is not associated with any provoking factors. Separately, in multiple sclerosis, the so-called cochlear- predoor- cerebellar symptom complex, which is manifested by spontaneous trembling of the eyeballs, temporary hearing disorders, and balance disorders, has been isolated.

The defeat of other cranial nerves in multiple sclerosis is much less common. These disorders are manifested mainly in the form of the following signs: smoothing of the folds between the nose and upper lip, disturbances in the movements of facial muscles, decreased sonority of the voice, disturbed movements in the tongue, its deviation to the affected side when asked to show the tongue.

Sensory disorders. Previously, it was believed that this group of disorders in multiple sclerosis is relatively rare. It has now been established that this is not the case. These disorders are quite common, in addition, they are very diverse. Very often, some of them can be replaced by others. Skin sensitivity is impaired in about a third of all patients, deep types of sensitivity – in about half. Pain sensitivity is also impaired in about half of all patients. The extent of these disorders varies greatly from patient to patient. The boundaries of the area with disturbed sensitivity are often rather indistinct. During the course of the disease, they can change many times. In more distant periods of the disease, these changes become more and more distinct.

Very often, sensitivity disorders are combined with disorders of a different nature, among which there may be such as: rapid fatigue in the legs, increased reflexes from the tendons, the identification of pathological reflexes that never occur normally during examination, etc.

With this combination, the diagnosis of multiple sclerosis becomes more definite.

Pain syndrome is very often expressed in multiple sclerosis, causing considerable suffering to the patient. Sometimes even special pain forms of multiple sclerosis are isolated. But the very sensation of pain and its localization are always unusual. Most often, wandering (not having a clear place) pain in the spine, headaches are detected. The latter are very often accompanied by imbalances, especially in the later stages of the disease. Sometimes they are also combined with insomnia. A lumbar puncture performed reveals significant changes in the brain tissue: an increased amount of protein in the cerebrospinal fluid is found, which indicates structural changes in the brain. In some cases of multiple sclerosis, there is pain in the shoulder or hip on one or both sides. Sometimes the pain covers the entire half of the body, in the same half, movement and sensitivity disorders are detected. In general, pain in multiple sclerosis is almost never the only manifestation; it almost always appears along with other characteristic disorders.

Disorders of the sensitive sphere in multiple sclerosis are very diverse and are often the very first manifestations of the disease. Most often, there are unpleasant sensations in the tips of the fingers and toes, their numbness, tingling, a feeling of crawling, unbearable itching in the trunk or limbs. Most often, these sensations develop in the hands and least often in the legs. Much less often, but still they can capture the face. The so-called symptom of an electric discharge is very peculiar – the patient’s sensation of a wave of electric current, which runs along the spinal column, and then passes into the lower extremities, in some cases – into the upper ones. Such sensations are most often provoked by a sharp tilt of the head forward.

Disorders of movements and reflexes. The most common movement disorder is the development of weakening of movement in both arms or, more often, in the legs. These disorders are accompanied by an increase in muscle tone in the affected limbs. Hands are affected much less often than legs, and if this happens, then much later.

Very often, increases in muscle tone are paroxysmal in nature; they increase during muscle work, most often in the legs while walking. In the future, with a prolonged course of the disease, the mobility in the corresponding joints is impaired. In this case, the arms are fixed in the flexion position, and the legs – in the extension and adduction position to the body. Sometimes disorders of the configuration of the feet develop in the form of the so-called “horse foot”. In most cases, the main complaints of a sick child and his parents are not associated with movement disorders, but with an excessive increase in muscle tone. Movement disorders are usually preceded by increased fatigue of one or another muscle group. At the same time, weakness in the hands is detected while writing, and in the legs – while walking. Very often, violations can take the form of a wide variety of pathologies of muscle tone. A decrease in muscle tone in the affected muscle group is not a characteristic sign of multiple sclerosis, in which case it is necessary to assume any other pathology. Sometimes a slight decrease in tone can still take place, but it is certainly combined with an increase in tendon reflexes and the appearance of pathological ones. The combination of a decreased tone with a weakening of reflexes indicates more a lesion of the cerebellum than a violation of the motor zones of the cerebral cortex.

Movement coordination disorders are a fairly common symptom of multiple sclerosis. At the same time, the patient is poorly oriented in space and coordinates movements in various muscle groups, if necessary, to perform a clear delicate movement, his hands tremble, the speech becomes too loud, “chanted”. If you ask the patient with closed eyes to touch the tip of the nose with his finger, he will miss. The patient misjudges the size of the surrounding objects, his handwriting becomes large, sweeping. Sometimes the shaking can trap the muscles of the head and neck, which is especially pronounced when sitting. In some cases, it extends to the entire body. With nervous excitement and tension, it increases.

Violations of the pelvic organs. First of all, this includes various violations of the acts of urination and defecation. The patient is disturbed by very prolonged, persistent constipation, which is often accompanied by stagnation of feces in the intestines. Bladder disorders manifest as delays or complete absence of urination; on the contrary, urinary incontinence may be noted. Such violations are observed in more than half of all children with multiple sclerosis. These manifestations almost never occur at the very onset of the disease, most often they are quite late. At this time, as a rule, many other, more significant disorders are expressed. Most often, pelvic disorders are accompanied by severe spinal cord lesions. These changes are especially negative in boys, since in the future they can lead to the development of impotence.

Disorders from the autonomic nervous system. It should be noted once again that, in essence, multiple sclerosis is not only a disease of the nervous system, it always affects many other organs and systems. This is due to two facts: first, the connection of the nervous system with all organs, and secondly, deep immunological shifts occurring in the body. During the disease, not only the structures of the nervous system responsible for movement and sensitivity are affected, but also the centers associated with the internal organs, the so-called autonomic or autonomic nervous system. As a result, the functions of these organs are also impaired.

Patients often complain of chilliness, blue discoloration and cold feet, which is also associated with damage to the autonomic nervous system. The changes can go so far that the pulse can no longer be felt on some large vessels.

Most often, the liver, other organs of the abdominal cavity, the thyroid gland, thymus, pituitary gland, hypothalamus, and adrenal glands are affected. Significant violations are also noted from the side of blood vessels, metabolism. The function of the pancreas is impaired, which leads to various digestive disorders.

Disorders of mental functions in multiple sclerosis. As noted above, seizures of the epileptic type can occur in multiple sclerosis, but this is very rare. In most cases, mental disorders during illness manifest themselves in the form of significant fluctuations in the patient’s mood: he becomes very irritable, often cries, or, on the contrary, the mood rises sharply and remains so for a long time. Such children become practically lack of initiative, their memory decreases, they begin to treat their condition as normal. However, some neuroscientists do not consider such changes as manifestations of the disease itself. They argue that these are simply personality traits of a sick child, which, as a result of the disease, come to the fore, become pronounced.

In addition to such relatively minor deviations, with multiple sclerosis, there are also quite deep psychotic shifts: delusions, hallucinations, manic and depressive states. Often, children suffering from the disease have a lag in intellectual development, which is fully restored after recovery.

The following are used as additional research methods in patients with multiple sclerosis:

1. General and biochemical blood tests. A decrease in the total number of leukocytes is revealed, but at the same time, the content of those of them that are most responsible for allergic reactions increases. In some patients, the erythrocyte sedimentation rate may increase. This can be combined with periodic increases in body temperature and in most cases is associated not with the disease itself, but with its infectious complications. In the biochemical analysis of blood, shifts in the content of various types of antibodies are determined: those of them that are associated with allergies and are not normally contained in the blood serum increase. The composition of proteins and fats circulating in the vessels is also disturbed. 

2. Lumbar puncture and examination of cerebrospinal fluid. In the cerebrospinal fluid, an increase in the content of allergic antibodies is also detected. In almost half of all patients with multiple sclerosis, especially at the height of the disease, during the greatest severity of all clinical signs, an increase in the content of protein and leukocytes is detected in the cerebrospinal fluid. These changes develop in waves and completely coincide with the course of the disease itself. 

3. Electromyographic research. This method can provide a lot of additional data regarding the course and form of the disease, but it plays a relatively small independent diagnostic role. All electromyography results should be considered in conjunction with other diagnostic techniques. 

4. Electronystagmography This study helps to identify and evaluate spontaneous twitching of the eyeballs in patients with multiple sclerosis. It is most informative in those forms of the disease in which damage to the brain and spinal cord, as well as the cerebellum, is observed. 

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