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Niemann-Pick disease (sphingomyelinosis) is a hereditary disease associated with excessive accumulation of fat in the various bodies and tissues, primarily in the brain, liver, lymph nodes, spleen, bone marrow. It has several clinical variants, each with a different prognosis. There is currently no specific treatment. From this article you can learn about the cause, symptoms and treatment options for Niemann-Pick disease.

Niemann-Pick disease is a lysosomal storage disease. This is when, as a result of insufficient activity of any enzyme, intermediate metabolic products accumulate in the cells of the body, which normally undergo further cleavage.

Causes of Niemann-Pick disease

The disease is based on a genetic defect of the 11th chromosome (types A and B), 14th and 18th chromosomes (type C). As a result of the presence of a violation in the structure of the gene in humans, a decrease in the activity of the enzyme sphingomyelinase, which breaks down sphingomyelin, is observed. Sphingomyelin is a type of fat. This biochemical disorder leads to excessive accumulation of sphingomyelin and cholesterol in the cells of the reticuloendothelial system: tissue macrophages. As a result, metabolism is disturbed.

Tissue macrophages are scattered throughout the body, but most of them are in the spleen, liver, bone marrow, lymph nodes, and central nervous system.

The disease is autosomal recessive, that is, it is not associated with sex, both men and women can get sick. When two pathological genes coincide (from the father and from the mother), the disease is most severe.

Symptoms

There are several clinical variants of Niemann-Pick disease. The division into variants is due to the peculiarities of the course and biochemical changes.

In total, 4 types of the disease have been studied:

• type A - the classic form of the disease (infantile, acute neuropathic);
• type B - visceral form (chronic, without involvement nervous system);
• type C - juvenile form (subacute, chronic neuropathic);
• type D - form from New Scotia (after the name of the province in Canada, in whose inhabitants this form is found). Recently, this type has been combined with type C.

Type A

This is the most unfavorable form in terms of prognosis for life. Manifests itself a few weeks after birth (children look healthy at birth). The child's appetite worsens, he begins to lose weight and lag behind in growth. Periodic vomiting and diarrhea are possible. The abdomen gradually enlarges due to the liver and spleen (the liver enlarges earlier than the spleen), ascites develops. The limbs look thin and very thin compared to the enlarged belly.

The skin of the child becomes dry, loses its elasticity, acquires a yellowish color, in some places yellowish-gray or yellow-brown spots are determined. All groups of lymph nodes increase, which can be determined by probing (palpation).

When examining the fundus, a specific symptom of a "cherry stone" is determined - a dark red spot on the retina. There may be clouding of the cornea and the appearance of a brown color of the lens.

The defeat of the nervous system consists at first in the lag in the nervous system. mental development from peers: children do not hold their heads, do not roll over from their stomach to their backs, do not follow the toy. Muscle tone in the arms and legs increases, muscle weakness develops. Tendon reflexes also increase. Hearing is gradually lost, vision is reduced, there may be epileptic seizures. At the height of the disease, the child is lethargic and apathetic, weakly reacts to the events taking place around him, almost constantly stays with open mouth which results in drooling.

There are periods of sudden rise in temperature: hyperthermic crises.

Gradually, exhaustion develops, and patients with this form of the disease die at the age of 2-4 years.

Type B

This form of the disease has a favorable course. In this case, the nervous system is not affected, the accumulation of sphingomyelin and cholesterol occurs only in the internal organs. Why the nervous system remains intact is still a mystery to doctors.

Initially, the spleen enlarges, usually by 2-6 years of age. Later, the liver enlarges. Liver damage leads to increased bleeding due to a violation of the blood coagulation system. Anemia often develops. Disturbed by pain in the abdomen, periodic violations of the stool, occasionally nausea and vomiting. The abdomen increases in size, but not as much as in type A.

In connection with the accumulation of fats in the lung tissue, infiltrates are formed. This causes frequent colds in such children.

This form is characterized by a long chronic course. Life expectancy is much longer than in type A, patients survive to adulthood.

Type C

The biochemical defect in this form has not been precisely elucidated. Sphingomyelin transport is suspected. There is a mild accumulation of sphingomyelin and a significant accumulation of cholesterol in the brain, spleen and liver.

The disease first manifests itself in the interval from 2 to 20 years. Enlargement of the liver and spleen compared with types A and B is insignificant. Characterized by an icteric hue of the skin. On the fundus - a symptom of "cherry pit", pigmentary retinal degeneration.

Neurological disorders begin with a decrease in muscle tone, which then, on the contrary, increases. Spastic paresis is gradually formed: muscle weakness with a simultaneous increase in muscle tone. Collaboration is disrupted eyeballs, coordinated eye movements become impossible, especially when looking up (the so-called vertical ophthalmoparesis).

A lack of coordination develops, in connection with which the gait changes. Trembling and involuntary movements in the limbs join. Violent twisting movements in the head and trunk are characteristic (torsion dystonia). There are epileptic seizures. Swallowing and speech are impaired. Mental disorders gradually progress, children lose the ability to learn, and eventually dementia (dementia) develops. Loss of control over function pelvic organs. A rather specific symptom for this form of Niemann-Pick disease has been described: it is a sudden loss of muscle tone in the legs, jaw and neck with laughter or other strong emotions. The disease progresses gradually.

After the appearance of a detailed clinical picture of the disease, the days of such patients are numbered.

Type D

Described among the inhabitants of the province of Canada: Nova Scotia (Scotia). A clear biochemical defect has not been identified, but the disease develops as a result of a small accumulation of sphingomyelin and a significant accumulation of cholesterol. According to its clinical manifestations, it practically does not differ from type C, so some researchers prefer not to isolate it into a separate form.

Diagnostics

To confirm the diagnosis, the activity of sphingomyelinase is determined in the culture of skin fibroblasts and leukocytes (for type A and B), the accumulation of non-esterified cholesterol in the culture of skin fibroblasts (for type C) is detected, and genetic defects are searched for in the 11, 14, 18 chromosomes.

A bone marrow puncture in such patients reveals specific "foamy" Niemann-Pick cells (they look like this due to the accumulation of fats).

Treatment

The disease is incurable. Mainly carried out symptomatic treatment to alleviate the suffering of the patient.

Among the symptomatic agents used:

IN last years Miglustat began to be used to stop the accumulation of sphingomyelin in cells. It blocks the enzyme responsible for the synthesis of glycosphingolipids (sphingomyelin precursors). Apply at a dosage of 100 mg 1-2 times a day to 200 mg 3 times a day (depending on the age and area of ​​the patient's body). Miglustat prevents the destruction of nerve cells and thus slows down the development of neurological symptoms, leading to an increase in life expectancy. A visible positive result from the use of the drug develops after 6 months - 1 year of continuous use.

Thus, Niemann-Pick disease is a rather severe hereditary disease of accumulation of sphingomyelins in the cells of the body, which leads to damage to the liver, brain, lymph nodes, and lungs. The disease has a steadily progressive character. In some variants of the disease, patients die quickly, other types proceed more benignly. A clear and effective treatment has not yet been developed, but successful steps in this direction have already been taken.

In another way, this disease is called sphingomyelinosis. She refers to hereditary pathologies and is associated with the accumulation of excess fat in the tissues of the liver, brain and bone marrow, lymphatic system, spleen. There are several variants of the disease with different prognosis. So far, special methods of dealing with this disease have not been developed, but medical science does not stand still. There are already positive results in the treatment of Niemann-Pick disease.

This disease has a genetic origin. The likelihood of sphingomyelinosis in your child is very high if there was a similar family or your marriage is closely related. In this regard, before planning a baby, you need to visit a gynecologist.

The reason for the development of this pathology are violations in 11, 14 and 18 chromosomes. Such changes affect the activity of the enzyme responsible for the breakdown of sphingomyelin, which is a type of fat, which leads to a violation metabolic processes in organism.

There is an accumulation of cholesterol and sphingomyelin in tissue microphages - cells of the reticuloendothelial system. Such microphages are most found in the central nervous system, lymph nodes, liver, spleen, and bone marrow.

This disease affects people of both sexes. The most difficult case is when there is a coincidence of pathological genes present in both parents.

Symptoms

The development of Niemann-Pick disease can occur in several ways. Four have been well studied:

1. Type A is the classic form of pathology, acute neuropathic or infantile. Symptoms appear during the first year of life. Children die most often before 3 years.
2. Type B - visceral form. The first signs appear when the child is between the ages of 2 and 6 years. The chance of death is lower. Some patients live to old age.
3. Type C is a mild adolescent form. Symptoms of pathology for the first time may appear in 2-5 years. The intensity of the disease increases by the age of 15-18. Most often, children die at this age.
4. Type D was found in residents of Canada and completely coincides with type C.

Type A

This form can be called the most unfavorable. The first symptoms of pathology become noticeable within a few weeks after the birth of the child. The kid loses appetite, weight and lags behind in growth. Diarrhea and vomiting often occur. Due to the increase in the size of the liver and spleen, the child's tummy grows. Against the background of a large belly, the arms and legs look thin and thin.

The skin of the baby becomes dry and less elastic. It acquires a yellowish tint with spots of gray and brown. Palpation reveals enlarged lymph nodes.

A dark red spot forms on the retina of the fundus. Sometimes the cornea becomes cloudy, and the lens becomes brown.

The first signs of dysfunction of the nervous system appear, which are manifested by a lag in the development of the child: he does not hold his head, is not interested in toys, does not roll over. There is an increase in muscle tone in the limbs, which leads to muscle weakness, there is a change in tendon reflexes. The child loses sight and hearing, seizures of epilepsy are possible.

In the midst of the illness, the baby almost does not react to what is happening, he is lethargic and apathetic. His mouth is open all the time, from which saliva flows.

Sometimes there are hypothermic crises, that is, the temperature suddenly rises.

Children with this form of pathology eventually become exhausted and die by the age of 4.

Type B

This form of the disease has a more favorable prognosis. It does not damage the nervous system. Cholesterol and sphingomyelin accumulate in tissues internal organs. Doctors still have not figured out why the nervous system is not affected.

By the age of 2-6 years, the baby's spleen is significantly enlarged. Later, the same thing happens with the liver. Its defeat leads to a violation of blood clotting, which is expressed in the appearance of bleeding, anemia may develop. The work of the digestive tract is disturbed: vomiting, nausea, diarrhea occur. The child often has pain in the tummy, which increases in size, although not as much as in form A.

Fats accumulate in the lung tissues, infiltrates are formed. This causes frequent colds.

This form of Niemann-Pick disease is characterized by a long chronic course. Patients survive to adulthood, their life expectancy is much longer.

Type C

The cause of this type of disease has not been precisely established. It is believed that it is associated with a violation of the transport of sphingomyelin. In this case, there is a slow accumulation of cholesterol and sphingomyelin in the liver, spleen and brain.

The first signs of the disease may appear between the ages of 2 and 20. The spleen and liver, compared with types A and B, do not increase very much. The skin turns yellow. A spot is formed on the fundus of the eye - a “cherry stone”. The pigmentation of the retina changes.

The first manifestation of neurological disorders is a decrease in muscle tone, which increases over time. Spastic paresis appears. Muscles weaken, and their tone increases.

The coordinated movement of the eyes is disturbed, this is especially noticeable when looking up. Vertical ophthalmoparesis develops.

Gait changes due to lack of coordination. There are uncontrolled movements of the limbs and their trembling. Torsion dystonia develops, which is expressed by twisting violent movements of the torso and head. Epilepsy attacks occur. Swallowing and speech are impaired.

There is a gradual destruction of mental abilities, which leads to the development of dementia. Loss of control over the work of the pelvic organs. Sometimes with this disease, strong emotions can lead to loss of muscle tone in the jaw, neck, and legs.

The disease gradually progresses and as soon as it reaches its peak, the patient dies.

Type D

Identified in residents of Canada, the province of Nova Scotia. The reason is not entirely clear, but the pathology develops with a small accumulation of sphingomyelin, while there is a lot of cholesterol.

The manifestations of the disease exactly repeat type C. Some scientists do not distinguish it into a separate form.

Diagnostics

When the first signs of the disease appear, the child lags behind in physical and mental development, it is urgent to consult a doctor. If a genetic pathology is suspected, the geneticist will prescribe the following tests:

• genetic testing;
• biopsy of the lymph node, liver and spleen;
• fundus analysis,
• skin biopsy,
• bone marrow puncture
• laboratory diagnostics of blood.

Complications

Possible complications of this disease: deafness, blindness, mental retardation, late development of motor abilities.

Treatment

Depending on the form of the disease and the severity of its course, the doctor will prescribe treatment to reduce the suffering of the baby. Therapy includes drugs that improve the functioning of the spleen and liver, the outflow of bile. In addition, drugs are used that have a positive effect on the functioning of the nervous system. Assign complexes of minerals and vitamins.

In addition to the listed drugs, they are usually prescribed diet food limiting corn, juices, potatoes, black bread.

Completely prohibited:

• White bread;
• dairy products;
• cabbage;
• carbonated drinks;
• sweets;
• cucumbers;
• jam;
• legume crops.

Not included in the banned list: meat, eggs, buckwheat, seafood, unsweetened fruits and vegetables not listed in the first list. You can use fructose, glucose, honey.

But there is no unanimity in opinion about the diet among doctors. Some of them consider proper nutrition- the basis for the treatment of the disease. Others argue that a diet with a genetic disorder is powerless. Compliance with the diet will bring additional suffering to the sick child.

Important! Niemann-Pick disease has no cure. Properly chosen treatment simply reduces the severity of symptoms and improves the patient's life.

Niemann-Pick disease is a very rare disease that causes a violation of lipid metabolism, which causes the deposition of fat cells in the internal organs of a person. The development of this pathology leads to serious complications, and the patient's condition becomes very serious. Niemann-Pick syndrome is very dangerous and requires special attention, because. there is a high chance of death.

Development of the disease

The possibilities of pathology allowed scientists to study the disease as carefully as possible. They managed to find out that with the development of this pathology, a metabolic disorder associated with lipids occurs. The result is the deposition of fats in the liver, spleen, lymph nodes and other internal organs. If they are split in a healthy person, then in a patient with Niemann-Pick syndrome there are more and more of them, which is why the disease is referred to as storage diseases.

The pathogenesis of the disease is associated with genetics. It is she who causes the development of such a problem in a person. Importantly, the syndrome manifests itself already in childhood. If you notice it in a timely manner, then the chances of a positive outcome will be slightly higher. The disease develops with genetic defects of 11 or 14 and 18 chromosomes, depending on the specific type of disease. With such disorders, there is a decrease in the functional activity of sphingomyelinase, which destroys sphingomyelin, which is one of the types of fat. For this reason, the intracellular transport of lipids is disrupted, the breakdown of fat deposits stops, and the level of cholesterol increases sharply. Such metabolic failures are extremely dangerous for human health.

Inheritance of the disease can occur from two sides at once. If both parents had pathological genes, then the child will face a much more severe form of the disease. In such cases, you will have to make a lot of efforts to save his life for at least a few years.

Both women and men can get sick. Gender has no effect on the likelihood of developing Niemann-Pick syndrome.

Forms and manifestations

There are several types of this disease, each of which differs in the characteristics of changes within the body, symptoms and prognosis. Most doctors tend to distinguish only 3 forms:

• Type A - classical (infantile);
• Type B - visceral (chronic);
• Type C - juvenile (subacute).

Some additionally endure type D, which is extremely rare. However, most often it is referred to as a juvenile form, because. they are practically identical.

Type A

The infantile form of the disease has an unfavorable prognosis, with damage to the nervous system. The first signs of its development appear already in the first year of a baby's life. Moreover, immediately after childbirth, the baby looks quite healthy, but after a few weeks, the manifestations of the disease make themselves felt.

The baby may not hold his head, not roll over from his tummy to his back, not show any attention in relation to toys, he has an increased muscle tone in the limbs, combined with weakness, his mouth is often constantly open, which leads to salivation. Gradually, the child may completely lose hearing and deteriorate vision. Sometimes babies develop.

After a while, parents may notice small stature, pronounced apathy, an increase in the abdomen associated with the growth of the liver and spleen, as well as ascites, the arms and legs of the child may become very thin, and the skin is dry, and sometimes it is covered with yellowish spots. It is often possible to identify defects in the cornea, retina, or lens. Sudden jumps in body temperature are possible.

Almost all with such a diagnosis do not live even up to 3 years.

Type B

The visceral form of the disease is more favorable. Its first manifestations can be seen when the child is 2 to 6 years old. The main difference from the first type of Niemann-Pick syndrome is the absence of damage to the nervous system.

The disease begins with an enlarged spleen. A little later, the liver also begins to grow, which causes high bleeding, anemia, pain inside abdominal cavity, nausea and stool disorders. In most cases, you can notice a slight increase in the abdomen. Many patients often experience a cold, because. in their lung tissues infiltrates are formed.

Many people who suffer from this type of disease survive into adulthood, sometimes they can even live into old age. However, for such a result, you will need regular maintenance of your health by taking medicines, as well as an emphasis on healthy lifestyle life.

Type C

The subacute form of Niemann-Pick syndrome is also called adolescence. She is unfavorable. Parents can notice the first symptoms at the age of the baby from 2 to 5 years. The disease reaches its peak by the age of 15. Its feature is a violation of the transport of sphingomyelin.

First, the child's muscle tone decreases, and then increases. After some time, severe weakness appears, the functions of the eyeballs fail, the movement of both eyes becomes inconsistent, coordination is disturbed, tremor of the limbs appears, it becomes difficult to swallow and talk. Almost all patients gradually lose mental skills, become unable to learn, they develop dementia. The most noticeable to others with Niemann Pick type C disease can be manifestations of torsion dystonia, epileptic seizures, disruption of the pelvic organs, yellowing skin and retinal pigmentation.

Patients can live up to 15-18 years, after which they die. In the absence of the necessary medical care and support from loved ones, the prognosis will be even more negative, and life expectancy will be reduced by several years.

Diagnostics, treatment

To start taking medication, you must definitely undergo a diagnosis to confirm the diagnosis. Only after that the doctor will prescribe everything necessary drugs. This will not take long, but it is not worth delaying visiting the hospital when symptoms appear.

Diagnostics

Parents of the child must be present at the doctor's appointment, because. it is on the basis of their words that he will be able to make a preliminary diagnosis, as well as determine the need for certain diagnostic procedures. Immediately after the survey, the baby will receive all the necessary directions. If he got to the hospital with serious symptoms, then the entire diagnosis can be carried out on the first day.

To identify Niemann-Pick syndrome, the following procedures may be necessary:

1. The study of the family tree for the presence of the disease in relatives.
2. Blood test to check the amount of sphingomyelinase.
3. Biopsy of internal organs (liver, spleen, or lymph nodes) to examine fat.
4. Genetic studies to analyze changes within genes.

Sometimes additional procedures may be required, but most often the examination is limited to those indicated above. It is very important to prepare the child in advance for their conduct, if the doctor asks to comply with certain conventions.

Treatment

Any clinical case with this disease is incurable. However, you still need to take medication. This is especially true for those people who suffer from type B syndrome. Only the right treatment will help them save their lives. Its main focus is the elimination of symptoms, but this does not reduce the degree of its importance.

Patients are prescribed:

• antidepressants;
• Anticonvulsants;
• Means against infections;
• For the expansion of the bronchi;
• Anticholinergic substances;
• Fortifying against diarrhea;
• Correcting salivation;
• Vitamin complexes.

Very often, patients are prescribed Miglustat. Such a drug can reduce the activity of sphingomyelin production and prevent the destruction of the nervous system, which will slow down the course of the disease. Doctors also advise patients to lead a proper lifestyle, paying special attention to their health.

Sometimes you may need an urgent blood transfusion or intravenous administration albumin.

How to protect yourself

Niemann Pick disease in children is a very dangerous phenomenon, which almost always leads to sad consequences. There are no meaningful recommendations that allow you to protect yourself. It should only be checked by a geneticist during pregnancy planning to determine the risks of developing the syndrome in a baby. There is no other way to avoid this disease.