Pelizaeus-Merzbacher disease is essentially a group of incompletely studied demyelinating diseases, in which there are gross, atactic disorders and abnormalities in the functioning and structure of the myelin sheath in the white matter of the brain. The disease is transmitted hereditarily, recessively, X-linked with sex, therefore, only boys are affected, girls are carriers of mutated genes.
ICD 10 code G37.8. Encryption according to ICD 11 will most likely be carried out under code 8A44.0, in the disease class nervous system, section demyelinating diseases, subsection leukodystrophy, or in the section on developmental anomalies, under code LE12.
Reasons
Pelizaeus-Merzbacher disease is a hereditary disease. Classically transmitted by a recessive X-linked type of inheritance (chromosome Xq22), it is caused by an anomaly of the gene encoding the synthesis of a proteolipid protein, structurally important for the formation of myelin in the central nervous system, as well as for the differentiation of oligodendrocytes. Mutations in the same gene can lead to the development of familial spastic paraparesis.
Currently, approaches to molecular diagnosis of the disease using mutation analysis have been developed. But despite this, as with a number of other diseases with an X-linked type of inheritance, the diagnosis of Pelizaeus-Merzbacher disease has a number of difficulties, because mutations in exons are detected only in 10-25% of patients with this disease.
Symptoms
Pelizaeus-Merzbacher disease is characterized by a triad of symptoms: severe vertical and/or horizontal rotatory nystagmus, nodding movements of the head and loss of coordination. The disease debuts in infancy (5-10 months) and is characterized by a slow rate of progression. Gradually, an increase in muscle tone, optic nerve atrophy, bradyllia (slowing the rate of speech), and a progressive decrease in intelligence are added to the above symptoms. In the later stages, symptoms of Parkinsonism and hyperkinesis appear, and dementia increases. The disease progresses especially quickly in the first years of life. Subsequently, periodic remissions are sometimes observed over a long period of time, but without significant regression of existing symptoms.
Diagnostics
The diagnosis is based on identifying a characteristic triad of the above neurological symptoms in infancy with their gradual slow increase. A slight increase in protein levels, as well as cytosis, may be detected in the cerebrospinal fluid. The main pathomorphological changes in the nerve tissue include the absence of the myelin sheath of intact axons, which also implies a dysfunction of oligodendroglia. Research has shown the existence of a genetic defect in the biosynthesis of the proteolipid apoprotein, which plays a role in the differentiation of oligodendrocytes and the maintenance of their function. An MRI study reveals a symmetrical pattern of slowing the rate of myelination (see photo). Brainstem examination early in the disease demonstrates a pattern of absence of waves III-V. When examining visual evoked potentials, slowing latencies are noted, somatosensory evoked potentials show the absence of cortical responses, or also slowing latencies. The data are of great importance when examining boys if they have nystagmus, allowing in most cases to make a full differential diagnosis diseases.
Treatment
There is no pathogenetic treatment for Pelizaeus-Merzbacher disease. They resort to general rehabilitation methods. In some cases, symptomatic treatment is possible.
Forecast
The prognosis is unfavorable. The disease always ends fatal more often in the second or third decade of life.
Literature sources
Mikhailova S.V., Zakharova E.Yu., Petrukhin A.S. Neurometabolic diseases in children and adolescents. Diagnosis and treatment approaches. -M: Publishing house "Litterra", 2011.-P. 324-331.
Bonnefond L. et al. Towards the full set of human mitochondrial aminoacyl RNA synthetases: characterization of AspRS and TyrRS//Biochemistry. -2005. -Vol. 44. -P. 4805-4816.
Paepe de B. et al. Diagnostic value of immuno-staining in cultured skin fibroblasts from patients with oxidative phosphorylation defects//Pediat. Res. -2006. -Vol. 59. -P. 2-6.
Huang Q. H., Xiao J. X., Wang J. M., Jiang Y. W, Wu Y. Clinical and genetic analysis of a family with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation // Zhonghua Er Ke Za Zhi. -2012. -Vol. 50(1). -P. 50-55. Chinese
Leukodystrophies – a group of severe hereditary metabolic diseases characterized by damage to the white matter of the brain. Metabolism is impaired in leukodystrophies myelin, that is, a substance that forms the sheath of nerve processes and ensures effective transmission of signals in the nervous system (myelin is what gives the white matter of the brain its color).
Myelin is made up of a number of different components and is therefore dependent on many genes for its functioning. A defect in one of these genes can interfere with the formation or maintenance of myelin sheaths. The transmission of nerve signals slows down sharply, motor and intellectual disorders occur, and the perception of signals from the senses deteriorates. With further destruction of myelin, these disorders intensify, over several years leading to deep physical and mental degradation and then to the death of the patient. is for now the only method, allowing to stop or slow down the progression of the disease in some patients.
Leukodystrophies are a group of rare diseases that vary in nature and frequency of occurrence. Here are some of them:
- Adrenoleukodystrophy. Substances of a special type accumulate in tissues - fatty acids with very long chains, since their splitting in this disease is impaired. As a result, the structure and function of myelin are disrupted.
- Metachromatic leukodystrophy caused by a deficiency of the enzyme arylsulfatase A. Sulfatides accumulate in the body - substances that have a destructive effect on myelin.
- Globoid cell leukodystrophy, or Krabbe disease, is associated with a disruption in the production of the enzyme galactocerebrosidase. This leads to the accumulation of substances that have toxic effects to the myelin sheaths.
There are also several other very rare leukodystrophies.
For many leukodystrophies, several forms of the disease are distinguished depending on the age at which the first symptoms appear. This is important for prognosis of the development of the disease (as a rule, the earlier symptoms appear, the faster the disease develops) and for planning transplantation bone marrow, if possible. Thus, for adrenoleukodystrophy, there is a typical childhood form with the onset of symptoms at 4-10 years of age and several other forms, including adrenomyelopathy, which is typical for adulthood and is not so severe. For metachromatic leukodystrophy, late infantile (onset of symptoms at 1-2 years), juvenile (3-10 years) and adult (after 16 years) forms are distinguished. For globoid cell leukodystrophy, infantile (from 3-6 months), late infantile (from 6-18 months), juvenile and adult forms are known.
Incidence and risk factors
Leukodystrophies are rare diseases. Thus, adrenoleukodystrophy occurs with a frequency of approximately 1 in 40 thousand newborn boys. Metachromatic leukodystrophy has a frequency of about 1 in 50-70 thousand newborns, globoid cell leukodystrophy - about 1 in 100 thousand. Some types of leukodystrophies are so rare that only a few hundred cases have been described worldwide.
Leukodystrophies are genetically determined diseases, and the type of inheritance depends on the specific type of leukodystrophy. Most leukodystrophies (including metachromatic and globoid cell) are inherited in an autosomal recessive manner, that is, the probability of a child becoming ill is 25% if both parents are carriers of the disease. Such diseases affect boys and girls with equal frequency. They occur more often in communities where consanguineous marriages are common, and may occur with varying frequencies among different nations.
Adrenoleukodystrophy is usually characterized by X-linked inheritance and therefore occurs in most cases in boys - if the mother is a carrier of the disease, the probability of the disease in her son is 50%.
For families who have already had children with any type of leukodystrophy, consultation with a geneticist is recommended before the birth of all subsequent children.
Signs and symptoms
At birth, children with leukodystrophy usually appear healthy and take some time to develop according to their age. However, then symptoms of damage to the central nervous system gradually appear. These symptoms vary somewhat depending on the specific disease and its form, but still have common features.
Movement disorders are common. In children, coordination of movements worsens, problems with balance are noted, and it becomes difficult to walk and run. Possible muscle weakness, abnormally increased or decreased muscle tone, muscle twitching. Convulsive attacks appear. Changes in behavior occur. Memory and intelligence gradually decline. Vision and hearing deteriorate. The child gradually “rolls back” in his development, losing previously acquired motor and intellectual skills. In the later stages of the disease, blindness, deafness, paralysis, and the inability to swallow food normally occur. As a rule, the more early age signs of the disease appear, the faster it progresses.
There are also symptoms characteristic of specific types of leukodystrophy. Thus, with adrenoleukodystrophy, in addition to disorders of the central nervous system, signs of damage to the adrenal glands are also revealed.
Diagnostics
Damage to the white matter of the brain, characteristic of leukodystrophies, is detected by magnetic resonance imaging (MRI). Typically, MRI abnormalities associated with myelin destruction are visible long before they appear. clinical symptoms, and subsequently the degree of these anomalies corresponds to the severity of the patient's condition. In many leukodystrophies, high levels of protein are detected in the cerebrospinal fluid.
To clarify the type of leukodystrophy, biochemical tests can be used - measuring the levels of enzymes whose synthesis or transport is impaired in a particular disease, or detecting those substances that accumulate in this disease. Other studies are also possible, including molecular genetic studies.
Prenatal diagnostic methods have been developed for some types of leukodystrophy (including metachromatic, globoid cell and adrenoleukodystrophy).
Treatment
In fact, the only treatment for leukodystrophies at present is allogeneic bone marrow (or umbilical cord blood) transplantation from a healthy donor. If successful, it can lead to normalization of the level of missing protein, and therefore to an increase in the duration and quality of life. Thus, there are known cases of using transplantations for the treatment of adrenoleukodystrophy, metachromatic leukodystrophy and globoid cell leukodystrophy.
At the same time, the use of transplantations for leukodystrophies is associated with serious limitations. It is very important to perform transplantation as early as possible, before significant neurological impairment develops. Indeed, transplantation does not allow to “correct” existing lesions of the central nervous system, but only stops or slows down their further progression. But it is also necessary to take into account the rate of development of neurological lesions.
Thus, with the most rapidly developing forms of leukodystrophies, it is often impossible to avoid death or severe disability of the patient even after transplantation. This is due to the fact that after transplantation some more time passes (for example, in some leukodystrophies we can talk about 12 or even 24 months) until the work of the donor cells leads to normal functioning of myelin. And all this time the development of the disease will continue. Therefore, in forms with a very early onset of the disease, hopes are associated mainly with those transplantations that were performed before the onset of clinical symptoms (for example, if the eldest child in the family had already been diagnosed with leukodystrophy and therefore youngest child produced early diagnosis). With a slower progression of the disease, the chances of success increase.
If bone marrow transplantation is not possible or recommended, then palliative therapy remains, aimed at alleviating the symptoms of the disease. New treatment approaches are constantly being developed, but for now they remain experimental.
There is an opinion that it is possible to slightly slow down the development of adrenoleukodystrophy (including while awaiting transplantation) with the help of a special diet. Sometimes Lorenzo's oil is also used, a remedy developed by the parents of a boy with adrenoleukodystrophy. However, it is still unclear how effective this remedy is.
Forecast
The prognosis for leukodystrophy is usually poor, especially in forms of the disease with early onset and rapid progression of symptoms. However, some patients may benefit from allogeneic bone marrow or cord blood transplantation. If successful, it stops or slows down the progression of the disease and allows one to largely preserve motor and intellectual functions. In this case, the most important condition is timely transplantation.
The disease belongs to the group of severe genetic diseases, which characterized by progressive damage to white matter in the brain.
The type of inheritance is directly dependent on a certain category of leukodystrophy, of which there may be several.
Most types of pathology (for example, metachromatic and globoid cell leukodystrophy) are inherited in an autosomal and recessive manner.
This suggests that the probability of the disease occurring in a person will be 25% in the case when each of the parents is a carrier of the disease.
All types of the disease tend to begin in childhood or even adolescence, with boys most often experiencing it.
About the essence of the disease
In a person who is faced with leukodystrophy, the normal metabolism of myelin is disrupted, which leads to the breakdown of the lining of the brain.
Myelin is important because it forms the sheath of nerve processes and ensures efficient transmission of signals to the central nervous system. In addition, it is thanks to myelin that the white matter of the brain retains its color.
The disintegration of the membrane, which covers not only the brain, but also nerve fibers, during the disease is progressive and irreversible.
In this case, as a rule, symmetrical damage occurs to the hemispheres, both the brain and the cerebellum. The gray matter of the brain is affected to a much lesser extent.
Causes and risk factors
Such diseases occur more often in boys than in girls. 
Experts note that in 85% of cases they occur in communities where marriages between close relatives have become commonplace. In addition, leukodystrophy can occur with varying frequency in each nationality.
For example, a form such as adrenoleukodystrophy is determined by X-linked inheritance and therefore occurs in boys.
If the mother turns out to be a carrier of the disease, then the probability of her son developing the disease is 50%.
That is why those families who have already encountered the birth of children with any form of the disease need to consult with a geneticist before their birth in the future.
Types and symptoms of the disease
Currently, the following main forms of leukodystrophy are distinguished:
- metachromatic Scholz;
- Krabbe;
- Hallevorden-Spatz;
- Peliceus–Merzbacher;
- Canavan–van Bogaert–Bertrand disease;
The first type is characterized by accelerated decomposition of myelin with an excessively high accumulation of toxically active products in the central nervous system.
Thus, the disease is directly related to disorders of lipid metabolism, their subsequent accumulation in the same central nervous system, as well as in peripheral nerves and internal organs.
Three forms of leukodystrophy are defined depending on the time of onset of symptoms.
Krabbe disease
Speaking about Krabbe leukodystrophy, it should be noted that this is an acute childhood form of the disease. In this case, an increased degree of excitability, tearfulness occurs, and attacks of loud screaming may also occur.
At this time, seizures may also appear. Very often there is an increase in body temperature (up to 38 degrees or more).
In addition to the infantile form, at the age of three months, adult form diseases.
Hallevorden-Spatz
Hallevorden-Spatz leukodystrophy is a form of diffuse sclerosis of the brain. In the later stages, respiratory and circulatory disorders are diagnosed.
- is slowly progressive;
- may continue for many years.
Pelizaeus–Merzbacher disease
The fourth form of the disease can be transmitted either by autosomal recessive or sex-linked inheritance.
Pelizaeus-Merzbacher disease begins to manifest itself at an early age: from five to 10 months.
It is characterized by slow development. In the future, sometimes there is a “bright” period, which can last a very long time. Specific non-progressive types of the disease are most rarely observed.
Canavan disease
Canavan-van Bogaert-Bertrand disease should also be classified specifically as a leukodystrophy.
Experts are confident that all processes associated with the decomposition of the myelin sheath begin during the child’s existence in the womb. Primary signs of the disease in 90% of cases appear already at the stage of birth.
- difficult to identify and impossible to cure, but it is possible to alleviate the suffering of a dying person.
What could be causing headache tension and what factors provoke it most? Which one will give the fastest results?
Alexander disease
Alexander disease is the rarest manifestation of leukodystrophy.
Also of note is dementia, a disorder motor functions and seizures.
Common manifestations for all species
Despite the fact that each form of leukodystrophy has independent signs, it is possible to note some common symptoms:
- in the first days or weeks after birth, children seem completely healthy and develop in accordance with their age group, but symptoms appear gradually;
- impairment of motor functions: worsening coordination of movements, problems maintaining balance;
- the occurrence of muscle weakness, excessively increased or decreased muscle tone, muscle twitching and cramps;
- changes in behavior, gradual deterioration of memory and intelligence.
Moreover, the earlier symptoms appear, the faster the disease develops. Therefore, it is very important to make a correct diagnosis.
Diagnosis
White matter lesions in the brain are detected using magnetic resonance imaging. 
To clarify the type of disease, various biochemical tests can be used. For example, determining the ratio of enzymes whose synthesis or transmission is impaired.
There may be a need for other types of research, including molecular or genetic.
Prenatal diagnostic methods have been developed for metachromatic leukodystrophy and some other forms.
Types of treatment
There are two types of treatment for brain leukodystrophy:
- The first one- This is an allogeneic transplant of bone marrow, as well as blood from the umbilical cord from a donor. In case of successful transplantation, this can lead to stabilization of the ratio of deficient protein and, as a consequence, to an increase in not just the duration, but also the quality of life.
- The second treatment method- symptomatic. It implies relief or relief from cramps. In this case, drugs with local or general effects are used, which must be selected with special care, because their inadequate use can lead to serious complications.
Complications
With leukodystrophy, complications can also occur, in particular deterioration of the myelin sheaths. This leads to:
- slower processing of nerve signals;
- the appearance of not just movement disorders, but also problems with intelligence;
- worsening the perception of signals from each of the senses.
As the myelin subsequently degrades, the presenting disorders become more obvious. Within two to three years they lead to severe physiological and mental degradation, and after that to the death of the child.
In addition, complications can also arise during bone marrow transplantation. We are talking about a transplant rejection reaction, which can lead to the death of the patient.
Prognosis and survival
With leukodystrophy, the prognosis is unfavorable. This is especially true for forms of the disease with early occurrence and rapid development of symptoms.
However, quite often a bone marrow transplant or, as noted earlier, an umbilical cord blood transplant can be life-saving.
If the operation is successful, it enables or slows down the development of the disease. It also makes it possible to preserve not only motor, but also intellectual functions.
How to avoid illness
Preventive measures are limited to medical and genetic counseling at the stage of pregnancy planning.
The purpose of this is to determine the risk of giving birth to a child with a similar pathology. In addition, we should not forget about prenatal prevention, that is, carried out during pregnancy.
This makes it possible to identify certain forms of pathology, for example, metachromatic.
What should we understand?
Leukodystrophy is a very complex disease, which also progresses rapidly. That is why it is necessary to pay special attention to diagnosis when planning pregnancy and at all its stages.
It is equally important to carry out transplantation as early as possible if the problem persists.
Thus, the treatment of any form of the disease should be treated with special attention in order to preserve the child’s quality of life.
Leukodystrophy (progressive sclerosis of the brain) is a group of hereditary diseases of the nervous system. In patients with leukodystrophy, myelin deficiency leads to defenselessness and damage to the white matter of the brain, resulting in dementia. Symptoms appear gradually, and leukodystrophy itself can begin to develop in infancy or from 3 years, less often in adolescence.
Leukodystrophies are genetically determined diseases, and the probability of a child becoming ill is 25% if both parents are carriers of the disease.
Leukodystrophies belong to the group; however, there is both a diagnostic and therapeutic arsenal for this disease.
Symptoms of leukodystrophy:
- extreme irritability
- convulsions in various parts bodies,
- weight loss,
- impaired control and coordination of movements,
- muscle paralysis or paresis,
- decreased vision,
- gradual deceleration general development, memory and intelligence,
- mental disorder.
Symptoms vary depending on the specific type of leukodystrophy and are sometimes difficult to recognize on early stages diseases: adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy or Krabbe disease. Diagnosis of leukodystrophy in Germany is aimed at determining the type of leukodystrophy and selecting appropriate therapy in each individual case.
Diagnosis of leukodystrophy in Germany
- Analysis of family history of diseases in three generations.
- Clinical examination.
- MRI of the brain (reveals white matter lesions characteristic of leukodystrophies).
- Computed tomography of the brain.
- Electromyography (with myelin deficiency, the impulse conduction time increases).
- Blood and urine analysis.
- Cerebrospinal fluid examination.
- Biochemical tests, measurement of enzyme levels (to clarify the type of leukodystrophy).
- Molecular genetic examination.
- Prenatal (prenatal) diagnostics. Possible for metachromatic, globoid cell and adrenoleukodystrophy.
Treatment of leukodystrophy in Germany
The main treatment method for leukodystrophies in Germany is currently bone marrow (or umbilical cord blood) transplantation in the early stages of the disease. In a favorable case, the operation can lead to normalization of the level of the missing protein, and in the future – to an improvement in the quality of life and an increase in its duration. Bone marrow transplantation stops the progression of the disease and allows one to preserve motor and intellectual functions.
If bone marrow transplantation is not possible or recommended, then therapy aimed at alleviating the symptoms of the disease remains. Treatment for most patients with leukodystrophy is supportive and includes German medications, a special diet, physical fitness activities, communication programs, and neurological rehabilitation.
The effectiveness of treatment of leukodystrophy in German clinics is due to the fact that over the past decades, special attention has been paid to the study of and. Doctors are aimed at providing effective assistance to everyone who turns to them. You will receive high-quality diagnostics, professional advice and support from specialists.
Leukodystrophy is a group of rare diseases that are inherited. With these pathological conditions Myelin sheaths are destroyed and white matter in the brain disintegrates. Transmission of the disease occurs according to the recessive and autosomal recessive type, the damaged chromosomes are linked to sex.
Damage to the brain and cerebellum in leukodystrophies occurs diffusely and symmetrically. The gray matter is practically not damaged.
In these diseases, a defect in the substance that is responsible for lipid metabolism, in particular for the synthesis of myelin, is detected. Metabolism is disrupted everywhere, so its products can be found not only in the central nervous system, but also in other organs and tissues.
Types of disease
At the moment, there are several types of leukodystrophies:
- Metachromatic. For her characteristic feature is the intense destruction of myelin and the accumulation of toxic products of perverted metabolism in the central nervous system, nerve bundles and internal organs.
- Pediatric acute leukodystrophy (Krabbe disease). It is characterized by predominant damage to myelin in the spinal cord and brain.
- Hallevorden-Spatz disease. Manifests itself as diffuse development of cerebral sclerosis.
- Pelizaeus-Merzbacher leukodystrophy. With this pathology, there is a clear relationship between the transmission of the disease by gender.
- Canavan-van Bogart-Bertrand disease. It is characterized by the fact that the process of myelin destruction begins in utero.
- Most rare species leukodystrophy is Alexander's disease.
How do different forms of pathology manifest themselves?
- With metachromatic leukodystrophy, primary symptoms appear at 2-3 years in the form of movement disorders and decreased muscle tone. Then a convulsive syndrome often occurs, and muscle tone rises.
As the disease progresses, speech impairment develops, a decrease in the child’s intellectual abilities, and the functioning of the respiratory and vascular centers. Typically, death occurs from infection between the ages of 4 and 7 years.
- Krabbe disease begins to manifest itself at the age of 4 months, the baby becomes overly excitable and constantly cries. Screaming attacks are often accompanied by convulsive syndrome. Body temperature rises in the absence of signs of inflammation.
- Muscle tone increases, and optic nerve atrophy develops. There is a steady progression of the disease, respiratory function and blood circulation are impaired. IN terminal stage dementia, rigidity of decerebrate genesis is noted and complete exhaustion occurs.
- Hallewarden-Spatz disease begins to show its first signs in children aged 7 to 12 years in the form of the development of involuntary movements of the limbs. Leukodystrophy of the brain leads to a gradual increase in muscle rigidity, ataxia, and decreased intellectual abilities.
Sometimes there are cramps. The disease tends to progress slowly and can last for quite a long time.
- Pelizaeus-Merzbacher pathology begins from 5 months after birth, but progresses quite slowly. Coordination during movement is impaired, uncontrolled movement occurs eyeballs, head shaking. Gradually, vision begins to decrease due to atrophy of the eye nerve, speech slows down, and intellectual capabilities deteriorate.
Sometimes there is a gradual increase in symptoms followed by improvement over a long period of time. Cases of the disease without progression have been described.
- Canavan-van Bogart-Bertrand leukodystrophy manifests itself immediately after the birth of the baby. He is already born lethargic, sleepy, eats poorly and moves little. Sometimes he develops seizures. When he is 2-6 months old, the tone of the neck muscles becomes reduced while the tone of the upper and lower extremities increases.
Involuntary eye movements and hydrocephalus occur. Any touch leads to a state of opisthotonus. Rapid deterioration of the condition leads to complete disruption of vital functions and death between six months and two years.
- Alexander leukodystrophy is characterized by increasing hydrocephalus, dementia, and seizures.
How can the presence of leukodystrophy be detected?
It is quite difficult to make a diagnosis quickly and correctly with leukodystrophy. Some of its forms are confirmed only after opening. 
The diagnostic stages for this pathology should be as follows:
- Mandatory and thorough study of the medical history and symptoms (first signs, the speed of their increase, the rate of changes).
- Since leukodystrophy is a hereditary disease, the family history and the presence of similar cases in close relatives of the patient are carefully analyzed.
- During the examination, the condition of the muscles and their tone, the presence of normal and pathological reflexes are assessed; if the baby walks, then the features of gait and coordination when moving are studied.
- If possible, monitoring of the progression of the main symptoms over time is carried out. Visual impairment, eye movements, hearing, and mental development are studied.
- A puncture is performed to collect cerebrospinal fluid, it is necessary to clarify its color, pressure, the presence of protein and its quantity, which increases as a result of the destruction of brain cells, and whether there is cytosis. The presence of glucose and chlorine solutions is assessed.
- Biochemical research methods must be used. They make it possible to assess the level of enzyme substances, the transport of which is impaired in a certain type of leukodystrophy. Or they find toxic elements that can accumulate during the development of this pathology.
- Additionally, if necessary, CT and MRI are prescribed in order to fully study the brain and the degree of its destruction.
- Genetic tests allow us to talk about the hereditary nature of the disease.
- In some cases, they are carried out modern techniques diagnosing leukodystrophy in the prenatal period.
When managing a patient, consultation with specialists such as a pediatric neurologist and geneticist is sometimes necessary. 
How to help a patient?
At this stage of medical development, it is not possible to completely get rid of such a disease. Treatment is symptomatic, aimed at improving the patient’s quality of life and reducing the rate of progression of the process.