Niemann peak hereditary disease. Clinic of Niemann-pick disease - diagnosis, treatment Niemann-pick disease type a treatment

Niemann-Pick disease is a rare familial disorder that is inherited in an autosomal recessive manner and occurs primarily in Jews. The disease is caused by a deficiency of the enzyme sphingomyelinase in the lysosomes of cells of the reticuloendothelial system, which leads to the accumulation of sphingomyelin in the lysosomes. The liver and spleen are mainly affected.

The mode of inheritance of Niemann-Pick disease is autosomal recessive, and this type of sphingolipidosis seems to be the most common among Ashkenazi Jews; There are 2 types, A and B. Type C of Niemann-Pick disease is an unrelated enzyme defect in which an abnormal accumulation of cholesterol occurs.

The cell has a characteristic appearance: pale, oval or round, with a diameter of 20-40 microns. In an unfixed state, granules are visible in it; when fixed with fatty solvents, the granules dissolve, thereby giving the cell a vacuolated and foamy appearance. Usually there are only one or two cores. On electron microscopic examination, lysosomes are visible as lamellar myelin-like formations. They contain abnormal lipids.

ICD-10 code

E75.2 Other sphingolipidoses

F02.0 * Dementia in Pick's disease G31.0

Symptoms of Niemann-Pick disease

Niemann-Pick disease type A(acute neuronopathic form) occurs in children who die before they reach 2 years of age. The disease begins in the first 3 months of life and is manifested by anorexia, weight loss and growth retardation. The liver and spleen are enlarged, the skin becomes waxy and becomes yellow-brown in color on the exposed parts of the body. Superficial lymph nodes are enlarged. Infiltrates occur in the lungs. Blindness, deafness and mental disorders are noted.

On the fundus, cherry-red spots appear due to retinal degeneration in the macula.

Peripheral blood analysis reveals microcytic anemia, and Niemann-Pick foam cells may be found in later stages.

The disease may first appear intermittent cholestatic jaundice of newborns.As the child develops, neurological disorders appear.

Niemann-Pick disease type B(chronic form, proceeding without damage nervous system) is manifested by cholestasis of newborns, which resolves spontaneously. Cirrhosis develops gradually and can lead to the development of portal hypertension, ascites, and liver failure. Cases of successful liver transplantation performed in connection with liver failure... Although there were no signs of liver lipid deposition during the 10-month follow-up, it takes a longer time to assess the metabolic disturbance result.

Aqua histiocyte syndrome

A similar condition of Niemann-Pick disease is manifested by the presence of histiocytes in the bone marrow and reticuloendothelial cells of the liver, which acquire a sea-green color when stained according to Wright or Giemsa. The cells contain deposits of phosphosphingolipids and glucosphingolipids. There is an increase in the size of the liver and spleen. The prognosis of the disease is usually favorable, although cases of thrombocytopenia and cirrhosis of the liver have been described in these patients. Perhaps this condition is one of the variants of Niemann-Pick disease in adults.

Dementia in Pick's disease

ICD-10 code

F02.0. Dementia in Pick's disease (G31.0 +).

Beginning in middle age (usually between 50 and 60 years), progressive dementia of the neurodegenerative type, which is based on selective atrophy of the frontal and temporal lobes with a specific clinical picture: prevailing frontal symptoms with euphoria, a gross change in the social stereotype of behavior (loss of a sense of distance, tact, moral attitudes; revealing disinhibition of lower drives), early gross violations of criticism in combination with progressive dementia. Speech disorders are also characteristic (stereotypes, speech impoverishment, decreased speech activity to speech aspontaneity, amnestic and sensory aphasia).

For diagnosis, the clinical picture of frontal type dementia is important - early detection of the prevailing frontal symptoms with euphoria, a gross change in the social stereotype of behavior in combination with progressive dementia, while the "instrumental" functions of intelligence (memory, orientation, etc.), automated forms of mental activity are less disturbed ...

As dementia progresses in the picture of the disease, an increasing place is occupied by focal cortical disorders, primarily speech: speech stereotypes ("standing turns"), echolalia, gradual vocabulary, semantic, grammatical impoverishment of speech, a decrease in speech activity to complete speech spontaneity, amnestic and sensory aphasia. Inactivity, indifference, spontaneity are growing; in some patients (with a predominant lesion of the basal cortex) - euphoria, disinhibition of lower drives, loss of criticism, gross violations of conceptual thinking (pseudo-paralytic syndrome).

Psychoses are not typical for patients with Pick's dementia.

Neurological disorders in patients are manifested by parkinson-like syndrome, paroxysmal muscle atony without loss of consciousness. For the recognition of Peak's dementia, the results of neuropsychotic research are important: the presence of signs of aphasia (sensory, amnestic speech stereotypes, changes in speech activity, specific writing disorders (the same stereotypes, impoverishment, etc.), aspontance. The results of neurophysiological studies are just as poorly specific for the diagnosis of Peak I dementia: a general decrease in the bioelectrical activity of the brain can be detected.

Pick's dementia should be differentiated from other types of dementia - this problem is relevant in the early stages of the disease.

Patients need care and supervision at the earliest stages of dementia due to gross behavioral and volitional disturbances at the onset of the disease. Treatment of productive psychopathological disorders is carried out according to the standards of treatment of the corresponding syndromes in elderly patients. A very careful use of antipsychotics is shown. It is necessary to work with family members of the patient, psychological support for people caring for the patient, in connection with gross behavioral disorders characteristic of patients, requiring great efforts from the close environment.

The prognosis of the disease is unfavorable.

Diagnosis of Niemann-Pick disease

Diagnosisis established on the basis of a bone marrow puncture, which reveals characteristic Niemann-Pick cells, or on the basis of a reduced level of sphingomyelinase in leukocytes. Both types are usually suspected on the basis of history and examination results, the most prominent of which is hepatosplenomegaly. The diagnosis can be confirmed by leukocyte sphingomyelinase testing and delivered prenatally using amniocentesis or chorionic biopsy.

First described by Niemann in 1914; A peak in 1922 gave clinical and cytological characteristics of the disease, indicating its differences from other lipidoses (see full body of knowledge).

Etiology and pathogenesis. Niemann - Peak disease is an inherited disease with an autosomal recessive mode of inheritance (see the complete body of knowledge). The incidence of the disease in boys and girls is the same.

The pathogenesis of Niemann - Pick's disease is associated with a deficiency in the tissues of sphingomyelinase, an acidic lysosomal hydrolase that hydrolytically cleaves sphingomyelin (see the complete body of knowledge). With sphingomyelinase deficiency, the normal catabolism of sphingomyelin is disrupted and it accumulates in the tissues. The possibility of excessive synthesis of sphingomyelin in Niemann-Pick disease has not been experimentally confirmed, but has not yet been completely ruled out. The content of sphingomyelin in patients in the cortex and white matter of the brain can increase by 1½-2 times compared with the norm. An increase in the content of this lipid is also found in the cerebrospinal fluid.

Pathological anatomy. An autopsy reveals a sharp increase in the size of the liver, spleen, lymph nodes, adrenal glands with staining of their tissue in yellow... Depigmentation or yellowish brown discoloration of the skin is sometimes noted.

Histologically, large (with a diameter of 30-60 micrometers), oval-shaped macrophages - the so-called Pick cells - are revealed in the tissues of the internal organs. They contain from one to four nuclei, their cytoplasm is foamy due to the accumulation of small drops of sphingomyelin (figure). Pick's cells are well stained with Sudan III, osmium, nilblausulfate and other dyes, give a positive Smith-Dietrich reaction, staining in black-blue. A large number of Pick cells are found in the liver; they are represented by stellate reticuloendotheliocytes (Kupffer's cells), increased in size, their cytoplasm is filled with drops of fat. In the lymphatic spleen, follicles are not detected, its pulp is diffusely infiltrated by Peak's cells, hemorrhages, zones of necrosis at various stages of organization, and areas of scarring occur. In the adrenal glands, Peak cell clusters are found mainly in the medulla. Peak cells are rare in the kidneys; fatty degeneration is expressed in the nephrothelium.

In neurons and glial cells of the brain, especially in the cerebellum, sphingomyelin is deposited, which gives these cells a morphological similarity that is not normally characteristic of them. Sphingomyelin can be found outside the Pick cells, for example, in cardiac muscle fibers and heart valves, in the alveoli and in the peribronchial tissue of the lungs, striated muscles, ligaments, joints.

In some cases, there is a predominant lesion bone tissue, as a result of which there are marginal usures and through defects in the bones of the cranial vault. Histologically, diffuse infiltration of the bone marrow by Pike cells and thinning of the compact bone substance are revealed.

The clinical picture. Niemann - Pica disease manifests itself in infancy, mainly in the first half of the year; isolated cases are described at an older age (the juvenile form of Niemann - Peak disease, in which the leading sign is hepato and splenomegaly without pronounced cerebral manifestations). Initial symptoms are the child's refusal to eat and occasional vomiting. Then there is a sharp weight loss with the development of hypotrophy, there is a delay in psychophysical development. The size of the liver and spleen gradually increase; on palpation, they are dense, with a smooth surface, painless; later ascites develops. Peripheral lymph nodes may also be enlarged. Skin have a waxy shade with areas of increased pigmentation.

Niemann-Pick disease (sphingomyelinosis) is a genetic hereditary disease when the body accumulates lipids in internal organs, as well as in the lymph.

Most often, the accumulation of cholesterol occurs in the following organs:

• In liver cells;
• In the spleen;
• In the cells of the brain;
• IN lymph nodes.

The disease can affect different ages, but, most often, it affects at an early age, and both boys and girls are equally ill. From this pathology, a high degree of death.

Etiology of the development of Niemann-Pick pathology

The main reason for the development of Niemann-Pick pathology is a defect in the chromosomes:

• In chromosome number 11 (type of pathology A);
• On chromosome 14 and 18 (pathology type B).

In case of a violation and a defect in the chromosomes, there is a decrease in the activity of sphingomyelinase molecules, which breaks down the sphingomyelin fat molecules.

With such a violation in activity, there is an accumulation of sphingomyelin fat molecules together with cholesterol molecules in macrophages, which leads to a violation of lipid metabolism, as well as to the metabolism of the whole organism.

Provocative factors that can aggravate the progression of Niemann-Pick disease:

• Improper nutrition with a predominance of animal fats in the diet;
• Alcohol abuse;
• Physical inactivity and no stress on the body;
• Overweight - obesity;
• Constant overstrain of the nervous system;
• Frequent stressful situations;
• Chronic pathologies in the body.

If several genes mutate at the same time, then Niemann-Pick disease proceeds in a complicated form.

Classification

There are 3 types of Niemann-Pick disease:

• Type A disease - This is the classic form of Niemann-Pick disease, which has an infantile appearance. Symptoms begin to appear in children of the first year after birth - these are cramps of the body and its individual organs, deviations in the swallowing reflex, the absence of many reactions. With this type of pathology, death occurs in children under 3 years of age;
• Type B disease Is a visceral type of Niemann-Pick syndrome. This pathology can occur between the ages of 2 and 6 years. In type B disease, the cells of the liver and spleen are mainly affected. With type B, death is less common, but the risk of its occurrence is still high. With this type of pathology, many patients live to adulthood;
• Type C disease Is a teenage form of pathology. The first symptoms appear before the age of 5, but they appear more intensely from the age of 15 to 18 years. With type C of Niemann-Pick syndrome, internal organs and brain cells are damaged. The mortality rate is high. Many adolescents die between the ages of 15 and 18.

The visceral form of Niemann-Pick disease is the most favorable form of pathology development, with the lowest mortality rate. It is diagnosed quite rarely and its manifestations are not pronounced.

Symptoms of Niemann-Pick pathology

The symptoms of Niemann-Pick disease depend on the organ that is affected and on the scale of the lesion. General symptoms Niemann-Pick disease is not.

When the brain cells are damaged by sphingomyelin molecules, the following symptoms appear:

• The work of the speech apparatus is disrupted;
• Convulsions appear;
• There is a change in body coordination and movement;
• The functioning of the visual organ deteriorates and vision loss occurs;
• There are violations in the auditory organ, hearing disappears, deafness may occur;
• There is a decrease in the level of intelligence;
• The psycho-emotional state of a person is disturbed, there is a sharp change in mood - from a cheerful mood to apathy and irritability;
• Dysphagia pathology.

When the liver cells and spleen cells are damaged by sphingomyelin molecules, the symptoms are as follows:

• There is an increase in the size of the abdomen;
• Decreases appetite, or completely disappears;
• Soreness inside the abdomen;
• Severe nausea, which provokes bouts of vomiting;
• There is an increase in bleeding when the skin is injured;
• Yellow tint of the skin.

When lung cells are damaged by sphingomyelin molecules, the following symptoms appear:

• The patient breathes frequently;
• Dyspnea;
• Cyanosis of the lips and skin in the nasolabial cavities;
• The patient often suffers from pathologies of the respiratory system and infectious diseases lungs.

Symptoms also depend on the type of Niemann-Pick disease.

Sphingomyelinosis type A begins to develop at the beginning of the child's life path, and manifests itself in the following symptoms:

• Swelling of the abdomen in the first 3 to 6 months of life;
• Bloody spots appear on the eyeball;
• Loss of skills and reflexes occurs.

With Niemann-Pick type B pathology, the symptoms are not pronounced, an increase in the volume of the abdomen can manifest itself in children more than early age, while schoolchildren and adolescents do not have such symptoms.

Relapses of infectious pathologies may appear. The brain and centers of the nervous system are practically not affected with this type of B.

Niemann-Pick pathology, which develops as type C, affects, most often, children in adolescence and school years, but can develop in infants and adults, regardless of age.

With this type of pathology, the syndromes are as follows:

• There is a decrease in the mobility of the lower limbs;
• The spleen increases in volume;
• The hepatic organ increases in size;
• Jaundice develops during the period of birth, or it develops in the first days after the birth of the baby;
• The child has problems with the assimilation of educational material;
• Degradation of intellectual abilities occurs;
• Epileptic seizures;
• Violations occur in the speech apparatus;
• A person suddenly loses muscle tone, which leads to his fall;
• Tremor of the hands and fingers;
• The function of the eyes is impaired - difficult to lower eyeballs and lift;
• The gait becomes wobbly and unsteady, which makes it difficult to move.

Complications of Niemann-Pick disease

The main complications of Niemann-Pick disease are:

• Complete blindness;
• Retardation in development;
• Intellectual retardation;
• Complete hearing loss - deafness;
• Incomplete development of motor reflexes in a child.

When is it necessary to visit the doctor?

The first visit to the doctor should be at the moment when the married couple is going to have a child, if there are relatives in the family with the Niemann-Pick genetic pathology.

It is also necessary to consult a geneticist if the child has signs of sphingomyelinosis pathology:

• The child is lagging behind in development;
• Lack of appetite in the child, or a complete lack of it;
• The baby is not gaining enough body weight.

Diagnostics

Diagnosis of pathology consists of the following techniques:

• History taking and visual examination;
• Ultrasound of internal organs and brain;
• The method of biopsy of cells of the organ affected by the disease;
• Genetic study of the patient.

Treatment of Niemann-Pick pathology

There is no specific treatment for Niemann-Pick pathology. Therapy is aimed at stopping the progression of the development of pathology and improving the patient's quality of life.

Niemann-Pick disease is incurable and symptomatic therapy is carried out with such groups of drugs.

• A group of anticonvulsant drugs - Depakine;
• For the correction of salivation - the drug Atropine (drops in the mouth);
• Antidepressants for mental disorders - Prozac, Zoloft;
• Valproate drug for psychosis;
• Anti-diarrhea drugs - Loperamide;
• With infections in respiratory tract - antibacterial drugs;
• Bronchodilator medicines - Berodual;
• Anticholinergic medicines for hand tremors - Cyclodol medicine, Parkopan medicine.

In modern medical practice to prevent the accumulation of sphingomyelin fat, use medication Miglustat.

This medication blocks the synthesis of glycosphingolipid molecules, which are precursors of sphingomyelin fat molecules.

This medication is used for treatment 1 - 2 times a day and the dosage depends on the age of the patient and the degree of damage - from 100.0 milligrams to 200.0 milligrams.

Medication Miglustat prevents nerve cells from destruction and protects a person from neurological pathologies.

Positive dynamics in the treatment of Niman-Pick disease with Miglustat, after taking from 6 months to 12 months. Also at drug treatment a diet is assigned to the patient.

Forecast for life

With Niemann-Pick disease, the prognosis for life is poor.

With the development of type A and type C pathology, the patient very rarely lives up to the 30th birthday. This type of pathology leads to irreversible processes in the body.

With type B development, patients can live to adulthood, subject to constant monitoring of the disease and a constant diet.

There is a high probability of having a baby with Niemann-Pick disease if the spouses are closely related.

Niemann-Pick disease is an inherited disorder in which fat accumulates in various organs, most often in the liver, spleen, brain and lymph nodes. This disease has several clinical forms, each of which has its own prognosis. There is no specific treatment, high risk of death. Niemann-Pick disease affects both males and females to the same extent.

Etiology

The main reason for the formation of this disease is a genetic defect in 11 (type A), 14 and 18 (type B) chromosomes. As a result of this pathological change, the activity of the enzyme sphingomyelinase is disrupted, which breaks down such a type of fat as sphingomyelin. This disorder leads to the accumulation of this type of fat and cholesterol in tissue macrophages, which leads to metabolic disorders.

The following factors can aggravate the course of the pathological process:

• improper nutrition;
• excessive consumption of alcoholic beverages;
• almost complete lack of physical activity;
• a tendency to gain extra pounds;
• , constant nervous tension;
• the presence of other diseases in acute or chronic form.

The disease occurs in both men and women. With the simultaneous mutation of several genes, the disease proceeds with the formation of complications.

Classification

There are three clinical forms of this ailment:

• type A - the classic infantile form. Symptoms appear already in the first year of life, neurological disorders are characteristic (convulsions, difficulty swallowing, lack of reaction). In most cases, children die before the age of 3;
• type B - visceral form. Symptoms may appear between the ages of 2 and 6 years. The liver and spleen are most affected. The risk of death is much lower; many patients live to old age;
• type C - teenage mild form. Symptoms appear at the age of 2–5 years, and become more intense at 15–18 years of age. Get amazed internal organs, including the brain. Most often, patients die at the age of 15-18.

The most favorable is the visceral form of the disease, since a lethal outcome is diagnosed extremely rarely, and the clinical picture is less pronounced.

Symptoms

The general clinical picture for Niemann-Pick disease, there is no, since the symptomatology will completely and completely depend on the affected organ or system as a whole.

With brain damage, the following clinical picture is observed:

• speech disorder;
• convulsions;
• impaired coordination of movements;
• deterioration or complete loss of vision;
• hearing impairment, up to and including its complete loss;
• decreased intelligence;
• a sharp change in mood, irritability gives way to complete apathy;

With damage to the liver and spleen, the clinical picture can manifest itself as follows:

• the abdomen increases in size;
• loss of appetite;
• stomach ache;
• belching;
• nausea, which is often accompanied by vomiting;
• increased bleeding with mechanical trauma to the skin;
• yellowness of the skin.

When the lungs are affected, the following symptoms are observed:

• rapid breathing;
• dyspnea;
• blue nasolabial triangle;
• the patient often suffers from lung infections.

In addition, regardless of the localization of the pathological process, the following symptoms may be observed:

• hypertonicity or hypotonia of muscles;
• decreased intelligence;
• swollen lymph nodes.

The presence of such a clinical picture requires mandatory consultation with a pediatrician, geneticist and immunologist.

Diagnostics

The diagnostic program may include the following activities:

• physical examination of the patient, clarification of complaints and collection of family history;
• Ultrasound of internal organs;
• biopsy of material taken from the affected organ;
• blood chemistry;
• genetic research.

In this case, a consultation with a geneticist is required.

Treatment

No specific treatment has been developed for Niemann-Pick disease. The therapy is palliative in nature and is aimed at inhibiting the development of the pathological process and improving the patient's quality of life. For such purposes, they use:

• blood transfusion;
• vitamin therapy;
• intravenous administration of protein solutions.

As symptomatic therapy, drugs of the following groups can be prescribed:

• anticonvulsants;
• antidepressants;
• anticholinergic;
• antidiarrheal;
• antibiotics;
• bronchodilators;
• to normalize salivation, etc.

In addition, the patient's nutrition, the daily regimen and compliance with all the doctor's prescriptions are important. In some cases, monitoring and treatment by a psychiatrist is required.

Forecast

With Niemann-Pick disease, the prognosis is poor. When clinical form type A and C patients rarely live up to 30 years. In this case, we are talking about an irreversible pathological process.

There are no specific prevention methods. If future parents in the family have had cases of this disease, then before planning a child, it is imperative to visit genetics. It should also be noted that the likelihood of having a child with Niemann-Pick disease is significantly increased in a marriage between close relatives.

Niemann-Pick disease belongs to a group of genetic diseases and is quite rare. The risk of developing this genetic disease is increased with closely related marriages.

There are several options for the development of the disease, which differ in the severity of manifestations. Three types of illness are most common:

• type A (classic form),
• type B (visceral form (main manifestations from the side of internal organs)),
• type C (chronic adolescent form).

What happens in the body with Niemann-Pick disease?

Niemann-Pick disease is a hereditary disease and develops due to mutations in genes that are responsible for certain bodily functions. With this pathology, the structure of the gene, which is responsible for the synthesis of the enzyme sphingomyelinase, is disrupted. Pick's disease is also called sphingomyelinosis, since all disorders are based on a defect of the substance of the same name.

The enzyme sphingomyelinase is involved in the breakdown of lipids and other products of fat metabolism. The main task of this substance is to separate the lipid called sphingomyelin into smaller particles. Since the required enzyme is released in insufficient quantities, or even not synthesized at all, the lipid sphingomyelin begins to accumulate endlessly in the body. Lipid accumulates mainly in the cells of the liver, spleen, lymph nodes and in the nerve cells of the spinal cord and brain.

As these substances accumulate, the cells grow and stop working properly. The accumulation of lipids in the nervous tissue leads to their destruction and further transformation into scar tissue, which cannot perform the desired functions.

Pick's disease - symptoms of the disease

Clinical manifestations depend on the type of disease. Different types have their own characteristics and severity of the course of the disease. Life expectancy also differs with different forms of gene disruption.

Type A

Niemann-Pick disease type A is hereditary disease, which is most often found among Jews from Central and Eastern Europe. In this variant of the disease, the lipid sphingomyelin is not cleaved at all and quickly fills the cells, causing disruption of their functions. The cells grow in size and die quickly, being replaced by scar tissue.

With Pick's disease, symptoms appear in infancy - at 3-5 months. Such babies have difficulties in feeding, they do not gain weight, they are stunted. The abdomen of such children is proportionally larger than the body due to an increase in the liver and spleen. The main symptoms of Peak disease type A:

• early onset of disease development (3-5 months),
• vomiting, frequent diarrhea,
• temperature increase,
• weight loss, muscle atrophy, lethargy,
• the volume of the abdomen is constantly increasing,
• delayed psychomotor development, (the child does not touch his fingers, does not sit down),
• convulsions
• vision is impaired, children do not fix their eyes,
• hearing decreases, children do not react well to sounds.

Type A is characterized by rapid progression of disease symptoms. The affected cells die, the death of brain cells causes disorders in swallowing, breathing and circulation. Such children rarely live up to 3-5 years.

Type B

A feature of the course of the Peak disease type B is the absence of lipid accumulation in nerve cells. Thus, nerve cells are not destroyed and symptoms of impaired brain activity do not appear. Such children do not suffer from intellectual abilities; in some cases, the patients demonstrate a rather high mental talent.

The first symptoms of the disease appear after 3 years. First of all, in children, the spleen begins to enlarge and later the liver. With age, symptoms of lung damage appear. Lipid accumulates in the lymph nodes and causes decreased activity immune system, children often get sick. The life span of such patients is somewhat reduced, but they live to adulthood, sometimes even to old age.

Manifestations of Niemann-Pick type B disease:

• an increase in abdominal volume (due to an increase in the liver and spleen),
• periodic dull pain in the abdomen,
• nausea, sometimes vomiting,
• disruption of the liver and gallbladder (yellowness of the skin and eyes),
• increased bleeding (the liver does not produce enough blood clotting components).
• shortness of breath with moderate physical exertion,
• frequent respiratory infections and colds.

Type C

Type C of Niemann-Pick disease appears after the first years of life. At the onset of the disease, internal organs are damaged - an increase in the liver and spleen, lymph nodes.

With this variant of sphingomyelin lipid metabolism, both internal organs and the nervous system are affected.

Symptoms of damage to internal organs:

• an increase in the volume of the abdomen,
• aching, dull pain in the abdomen,
• yellowness of the skin, mucous membranes and eyes,
• swollen and tender lymph nodes
• dyspnea,
• frequent bronchitis and pneumonia.

With the course of the disease, symptoms of damage to the nervous system appear. Manifestations of disorders of the brain and spinal cord are constantly growing, patients lag behind in mental and physical development from their peers. With the progression of the disease, children lose the skills and abilities that they have already mastered. For example, a child has already learned to speak, but over time, speech becomes impaired and becomes less intelligible.

The damage to the cells of the nervous system is constantly progressing and causes disorders incompatible with life. Typically, such patients live for 15-20 years.

Symptoms of damage to the nervous system:

• tremor of the fingers, impaired coordination of movements,
• convulsions, epileptic seizures,
• swallowing and breathing disorders,
• loss of speech and other learned skills,
• memory and thinking impairments, decreased school performance,
• behavior disorders, isolation,
• emotional instability, irritability, depression.

Diagnosis of the disease

When complaining about an increase in the volume of a child's abdomen, a lag in mental and physical development, the doctor asks parents in detail about the appearance of symptoms, their frequency and connection with various factors of external influence. The doctor carefully examines the child and if it is suspected that he has genetic disease prescribes additional tests. Also, such a child must be shown to a geneticist.

Tests to confirm Niemann-Pick disease:

Treatment

Depending on the type and clinical manifestations the doctor selects therapy aimed at reducing the severity of the course of the disease. The treatment regimen consists of many different drugs that improve the functions of the liver and spleen, and the outflow of bile. Also, drugs are prescribed to improve the functioning of the nervous system. The use of a complex of vitamins and minerals is shown.

Patients must be prescribed a diet restricting the use of certain foods, such as brown bread, corn, juices, potatoes.

By the complete ban got:

• milk products;
• white bread;
• cabbage;
• sweets;
• carbonated drinks;
• jam;
• legumes;
• cucumbers.

You can eat buckwheat, all types of meat, eggs, seafood, vegetables and unsweetened fruits without restrictions. Of sweet products, honey, herbal teas, glucose, fructose are allowed.

Doctors have not yet been able to completely cure the disease, but correctly selected therapy can significantly reduce the severity of symptoms and improve the patient's quality of life.