Successful treatment of rare diseases is guaranteed by the leading specialists of the top assuta clinic. Louis-Bar syndrome: symptoms, diagnosis and treatment

With this rare form phakomatosis, neurological symptoms, skin manifestations in the form of arachnoid proliferation of blood vessels (telangiectasia), a decrease in the immunological reactivity of the body are observed. The disease is genetically determined and is inherited in an autosomal recessive manner.

Pathological anatomical examination shows a decrease in the number of nerve cells and proliferation of blood vessels in the cerebellum.

The first signs of the disease appear between the ages of 1 and 4 years. The gait becomes unstable, awkwardness of movements appears, the smoothness of speech is disturbed (scanned speech). The progression of cerebellar disorders gradually leads to the fact that patients stop walking independently. Often there are involuntary movements of the limbs, poor facial expressions. Speech is monotonous and slightly modulated.

Another characteristic symptom of the disease is vascular changes in the form of telangiectasia, located on the mucous membrane of the eyes, mouth, soft and hard palate, skin of the extremities. Telangiectasias usually follow ataxia, but may also be the first symptom of the disease.

Children with Louis-Bar syndrome often suffer from colds, inflammation of the paranasal sinuses, and pneumonia. These diseases often recur and take chronic course. They are caused by a decrease in the protective immunological properties of the blood, the absence of specific antibodies.

Against the background of the progression of the disease, intellectual impairment intensifies, attention and memory are upset, and the ability to abstract is reduced. Children are rapidly depleted. Changes in mood are noted. Tearfulness, irritability is replaced by euphoria, foolishness. Sometimes patients are aggressive. They do not have a critical attitude towards their own defect.

In the treatment of Louis-Bar syndrome, restorative means, drugs that improve functionality nervous system. Attempts are being made to replace the missing immunological blood fractions with infusion thymus taken from a deceased newborn, and the introduction of thymosin thymosin extract.

Therapeutic and educational activities are very limited due to frequent colds and the steady progression of the process, leading to severe intellectual impairment.

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Ataxia-telangiectasia is a complex genetic neurodegenerative disease that can manifest in early childhood. The disease is characterized by a gradual incoordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membrane due to the constant expansion of a group of blood vessels (telangiectasia) and impaired functioning immune system(eg, cellular and humoral immunodeficiency), resulting in increased susceptibility in the upper and lower respiratory tract. People with ataxia-telangiectasia also have an increased risk of developing certain malignant neoplasms especially cancer lymphatic system, hematopoietic organs(eg leukemia) or brain cancer.

Progressive ataxia usually develops in infancy and may initially be characterized by an abnormal divergence in the movements of the head in relation to the body. As the disease progresses, this condition results in the inability to move normally, and sometimes even walk, by late childhood or adolescence. Ataxia is often accompanied by difficulty in pronunciation of words due to a violation of the speech apparatus, as well as a violation of the ability to coordinate eye movements, including the occurrence of involuntary, rapid, rhythmic eye movements when trying to focus on certain objects.
In addition, by 6-7 years the child may have an expansion of the small skin vessels, often appearing on exposed areas of the skin such as the bridge of the nose, ears and certain areas of the extremities, as well as the mucous membranes of the eyes.

Telangiectasia (persistent enlargement small vessels) in a child, a similar picture can be seen in the elderly.

early symptom ataxia-telangiectasia is a decrease in muscle coordination, usually when the child begins to walk. Coordination (especially in the head and neck area) becomes impaired and involuntary muscle contractions may occur. In most cases, mental functioning is not affected, and most children in mental abilities do not lag behind children without this disease.

Visible dilated blood vessels usually begin in the eyes (eyes look bloody) between the ages of three and six, although telangiectasia may appear earlier. These patches can spread to the eyelids, face, ears, and possibly other areas of the body. Rapid eye blinking and movement, as well as head turning, may develop gradually. Sometimes nosebleeds can occur. Adenoids, tonsils and peripheral The lymph nodes may develop abnormally or not develop at all. Muscular coordination in the head and neck area can be progressively impaired, causing cough reflexes and problems with swallowing and breathing.

Growth retardation can be explained by growth hormone deficiency. Premature aging occurs in about ninety percent of affected individuals and is characterized by gray hair with dry, thin, wrinkled or discolored skin during adolescence.

Due to impaired immune systems, patients with ataxia-telangiectasia syndrome are at risk for chronic or lung infections, recurrent cases of pneumonia, and chronic bronchitis.

About one in three affected people usually develops cancer of certain malignancies, especially of the lymphatic system or leukemia. Impact x-rays, increases the incidence of possible tumors.

In some cases, a mild form may occur diabetes . It is a disease in which there is insufficient production of the hormone insulin. Primary symptoms may manifest as increased thirst and urination, weight loss, lack of appetite and fatigue.

The reasons

Ataxia telangiectasia is inherited as an autosomal recessive type of trait inheritance. Genetic diseases are determined by two genes, one from the father and the other from the mother.

Recessive genetic disorders occur when a person inherits the same gene for the same trait from each parent.

The gene for the disease that causes ataxia-telangiectasia is known as the 11q2/ATM gene. Chromosomes carry the genetic characteristics of each person. Human chromosome pairs are numbered 1 to 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.

The researchers determined that the ATM gene affects a protein that plays a role in regulating cell division after DNA damage. (DNA or deoxyribonucleic acid is the carrier genetic code.) The protein that is known as ATM is an enzyme that normally responds to DNA damage by causing the buildup of the p53 protein, which prevents cells from dividing. However, in individuals with ataxia-telangiectasia, pathological changes causes the absence or deficiency of the ATM protein in the gene and delays the accumulation of the p53 protein. As a result, DNA-damaged cells continue to divide without a corresponding repair of their DNA, causing increased risk cancer development.

Forms of ataxia, how not to confuse Louis-Bar ataxia with other forms

Ataxia- walking with an unsteady gait, caused by a violation of muscle coordination. There are many forms of ataxia. Some ataxias are inherited, some have other causes, and sometimes ataxia can be a symptom of other disorders. To find information about other types of ataxia.

Symptoms the following disorders may resemble ataxia-telangiectasia. Comparisons can be useful for diagnosing:

• Friedreich's ataxia is genetic, progressive, neurological disorder movement that usually occurs before adolescence. Initial symptoms may include poor posture, frequent falls, and progressive difficulty walking due to poor coordination. Patients with Friedreich's ataxia may also develop abnormalities in some of the reflexes; characteristic deformities of the foot; inconsistency of hands; slurred speech; and rapid, involuntary eye movements. Friedreich's ataxia may also be associated with cardiomyopathy, a disease of the heart muscle that may be characterized by dyspnea on exertion, chest pain, and heart rate(cardiac arrhythmias). In some cases, it may also develop diabetes, a condition in which there is insufficient secretion of the hormone insulin. Friedreich's ataxia can be inherited as an autosomal recessive trait.
• Ataxia Pierre-Marie- neuromuscular syndrome is inherited as dominant trait. Also known as Pierre Marie's disease or hereditary cerebellar ataxia. An early symptom is unsteadiness when walking down stairs or on uneven ground. Frequent falls may occur as development progresses. concomitant symptoms such as tremors, loss of coordination, and slurred speech. For more late stages slight loss of vision may also occur
• Charcot-Marie-Tooth tooth is a group of disorders that affect motor and sensory peripheral nerves, leading to muscle weakness and atrophy, primarily in the legs and sometimes in the arms

Diagnosis of Louis Bar disease

The diagnosis of ataxia-telangiectasia is made on the basis of the patient's history, a thorough clinical examination, identification of characteristic symptoms and special tests, including blood tests, magnetic resonance imaging and karyotyping.

Blood tests can detect elevated serum alpha-fetoprotein levels, which are found in about 85% of cases. Blood tests may also show elevated liver enzymes. During an MRI, a magnetic field and radio waves are used to create cross-sectional images of the brain that can show progressive cerebellar atrophy. Karyotyping is a specialized test that detects chromosomal abnormalities, children with Louis Bar disease have an increased frequency of such chromosomal abnormalities.

Treatment ataxia-telangiectasia syndrome

Children with Louis Bar syndrome should avoid excessive exposure to sunlight. Vitamin E therapy, in some cases, has been successful in temporarily relieving some symptoms, but should only be carried out under the supervision of a doctor to avoid side effects, it is also useful to monitor the condition of the child and avoid cases with, since the immune system plays a big role in this disease, for example in protection from infectious diseases.

Patients with a similar syndrome are sometimes prescribed the drug diazepam; it can help in some cases, get rid of slurred speech and involuntary muscle contractions.

Louis-Bar Syndrome is a rare immunodeficiency neurodegenerative genetic disease, which manifests itself in the form of cerebellar ataxia, causes severe forms paralysis. The second name of the disease is ataxia telangiectasia. Ataxia is characterized by impaired coordination of movements, and telangiectasia is characterized by the expansion of blood vessels. Both of these signs are hallmarks Louis Bar syndrome.

The disease is inherited according to an autosomal recessive type, while the threat of the incidence of a child born to a couple with one sick parent is 50% out of 100. According to statistics, the prevalence of the disease occurs in one person out of forty thousand.

The essence of the disease is the congenital abnormal immune state of the human body. The T-link is affected in genetic chain. Further, the pathology manifests itself in abnormal forms throughout the body. Due to the affected immunity, people suffering from Louis-Bar syndrome are prone to frequent infectious diseases, as well as the occurrence of malignant oncological formations throughout the body.

If the syndrome manifests itself in a newborn child, then most often it ends lethal outcome, and without the possibility of timely and correctly diagnosing this disease.

Causes and pathogenesis of Louis Bar syndrome

This genetic disorder is various classifications is considered as spinal-cerebellar degeneration or as phakomatosis (this term was proposed as a designation for diseases with a combined lesion of the nervous system and skin - congenital neuro-ectomesodermal dysplasia). The reason is the mutation of the ATM gene, which activates autoimmune processes, which leads to cell death throughout the body, including in the brain. Genetic disorders occur during prenatal development fetus.

The disease with the same frequency affects both men and women, has a rapid progression, affects, first of all, the nervous system and skin. The disease can completely change or destroy the tissues of the cerebellum, affecting even its nucleus.

Louis-Bar syndrome is an immunodeficiency condition based on thymic hypoplasia and deficiency of IgA and IgE. That is, there is a violation in the functions of cellular and humoral immunity. This provokes frequent recurrent infectious diseases of the respiratory system, digestive tract and skin. The characteristic hypoplasia of the thymus is complemented by hypo / atrophy of the lymph nodes and the lymphatic apparatus as a whole, as well as the spleen and alimentary canal.

Weak immunity cannot resist even a minor infection, and also becomes vulnerable to malignant neoplasms in the lymphatic system.

Clinical manifestations of Louis-Bar syndrome

This is a rare disease. The first symptoms appear between the ages of three months and three years. With age, the manifestations become more pronounced.

Telangiectasia debuts mainly after signs of ataxia at the age of 4-6 years. There are cases when symptoms are observed already in the first month of life. Telangiectasias manifest themselves primarily on eyeballs in the form of bulbar conjunctiva, then spreads to the eyelids and face.

Typical symptoms of Louis-Bar syndrome:

1. Disturbances in coordination of movements (usually after three years) - instability, ataxic gait, involuntary movements;
2. Mental disorders and slowdown or complete stop in development (after ten years);
3. Change in skin color under the influence of ultraviolet rays;
4. The formation of former spots on the body;
5. Dilation of blood vessels in the area inside knees and elbows, on the face, in the whites of the eyes;
6. Early gray hair;
7. Hypersensitivity to x-rays;
8. Severe infections respiratory tract, ears prone to relapse (in 80% of patients);
9. Lack of reflexes in the muscles of the eyes;
10. Abnormal development of the thymus gland, and in some cases its complete absence;
11. Lymphocytopenia (about 1/3 of all cases);
12. Delayed sexual development or incomplete development and early menopause.

Dermatological manifestations in patients with Louis Bar syndrome are observed in 100% of cases. Other manifestations such as dry skin, keratosis on the skin of the extremities, pigmentation on the face occur in about half of the cases. It cannot be said that skin manifestations are specific for ataxia-telangiectasia, but this is the first visible sign disease, which is very important for timely and correct diagnosis and treatment. Often it is the dermatological picture that helps to establish the correct diagnosis.

Diagnosis of Louis-Bar syndrome

Diagnosis of this disease is complicated by the fact that the syndrome can be combined with other genetic diseases, behind which it hides its real symptoms. Often, Louis-Bar syndrome can be manifested and diagnosed only after long-term treatment infectious diseases, which does not work.

To establish correct diagnosis The patient is being consulted by several medical professionals: immunologist, dermatologist, ophthalmologist, oncologist, otolaryngologist. Analyzing all the procedures, tests, consultations, the final conclusion is made by a neurologist. The neurologist also prescribes laboratory research, additional procedures and tests to establish an accurate and correct diagnosis.

During the examination, the doctor focuses on:

• delayed sexual development;
• skin pigmentation;
• violation or absence of tendon reflexes;
• growth disorder;
• reduced size of the tonsils, lymph nodes.

Laboratory tests are ordered:

1. A clinical blood test to determine the level of α-fetoprotein protein (with Louis-Bar syndrome, its level is increased).
2. A blood test for a decrease in the level of leukocytes.
3. A blood test to determine the concentration of antibodies in the blood (with a disease, the number of antibodies decreases).
4. Examination of the level of immunoglobulin in the blood (with the syndrome, the level of immunoglobulin A and E is significantly reduced).
5. Detection of genetic mutations.
6. Glucose tolerance test.
7. Ultrasound of the thymus.
8. brain MRI and brain structures(with the disease, an increase in the fourth ventricle and pathological changes in the cerebellum are detected - degeneration of cerebellar cells).
9. x-ray chest to exclude pneumonia, to detect changes in the size of the bronchi.
10. Analysis of age spots (presence of hyperkeratosis, deposition of melanin in the epidermis, inflammatory response in the dermis).
11. Pathological anatomical examination of the lymphatic system (thymus hypoplasia, atrophy of the lymphatic apparatus of the gastrointestinal tract is detected).

To make the correct diagnosis, Louis-Bar syndrome should be differentiated in a number of other diseases with similar symptoms:

1. Ataxia Friedreich.
2. Pierre Marie's illness.
3. Rendu-Osler disease.
4. Hippel-Lindau syndrome.
5. Sturge-Weber-Crabbe syndrome, etc.

Treatment of Louis Bar syndrome

Currently, medicine is still powerless against such a severe genetic disease as Louis-Bar syndrome. Experimental medicine in the field of genetics deals with the resolution of this issue. Basically, treatment is reduced to slowing down the course of the clinical picture and muffling the symptoms.

Treatment is prescribed by a neurologist individually for each patient, taking into account the etiology, pathogenesis, stage of the disease. To prolong life, the patient is prescribed a special immunotherapy with various dosages of T-activin and gamma globulin. In the complex, it is also mandatory to take vitamins to maintain the correct functionality of the body.

The patient is given a course of antibiotics to fight secondary infection bacterial nature. The patient must undergo physiotherapy.

When malignant neoplasms are detected, chemotherapy is prescribed, radiation therapy or undergoing surgery. In the presence of diabetes, insulin and antidiabetic drugs are prescribed.

Prognosis of Louis Bar syndrome.

Since the disease is of a genetic nature and partially or completely destroys immunity at the cellular level, it has pathological character and is not amenable to treatment, then a normal full-fledged life activity is almost impossible.

The prognosis of this genetic disease is unfavorable. Most patients die within 5-8 years after the onset of the first symptoms from infectious diseases of the respiratory system (often pneumonia) or from malignant formations in the body. Patients live mostly up to 14-15 years, but there are rare cases when, under good living conditions, patients with such a diagnosis lived up to 40 years.

Prevention or prevention of the disease does not exist due to the impossibility of influencing genetic development embryo in the womb.

Summary

The article presents a case of his own clinical observation of Louis-Bar syndrome (congenital ataxia-telangiectasia) in a 13-year-old girl.

Keywords

Louis-Bar syndrome, children.

Louis-Bar syndrome (congenital ataxia-tel-angiectasia - A-T) is a congenital immunodeficiency condition with a predominant lesion of the T-link of immunity, characterized by abnormal development of embryonic anlages and, apparently, an incorrect interaction of the ectoderm and mesoderm. Louis Bar syndrome is a genetic disorder that is inherited in an autosomal recessive manner. First described in 1941. D. Louis-Barr. The population frequency is unknown. Sex ratio: m: w - 1: 1.

Immunodeficiency and chromosomal instability are markers A-T(Ataxia - Teteangiectasia Mutated), which encodes the synthesis of the kinase of the same name. The cells of patients with A-T are characterized hypersensitivity to radiation, cell cycle defects, while clinical manifestations and immunological disorders have significant differences, there is an increased incidence of malignant tumors and spontaneous chromosomal instability, chromosomal breakdowns involving predominantly chromosomes 7 and 14.

It is known that the cell cycle is divided into 4 phases: mitosis (M) and DNA synthesis (S), separated by two breaks Gl and G 2. The sequence of the cell cycle is as follows: G 1 - S - G 2 - M. After exposure to ionizing radiation, double-strand DNA breaks occur. If DNA repair occurs, the cell cycle is restored; if not, cell death occurs by apoptosis or a mutant clone develops. Normally, the cell cycle under the influence of radiation can be blocked at two critical points - the transition from the Gl-phase to the S-phase and/or from the G2-phase to the M-phase. With A-T, cell cycle control is impaired at critical points. Double-strand DNA breaks occur during the recombination of immunoglobulin genes and the T-cell receptor. Processes resembling the recombination of immunoglobulin genes occur during the maturation of brain neurons. Obviously, many clinical and immunological manifestations in patients with A-T, such as disorders in the synthesis of immunoglobulins, the functions of the genital organs and the nervous system, are associated with defects in DNA repair in these cases.

Clinical manifestations of A-T can differ significantly in different patients. Progressive cerebellar ataxia and telengiectasias are present in everyone, and café-au-lait spots on the skin are common. The tendency to infection ranges from very pronounced to very moderate. The frequency of development of malignant neoplasms, mainly of the lymphoid system, is very high. Immunological changes in patients with A-T are disorders cellular immunity in the form of a decrease in the number of T-lymphocytes, an inversion of the CD4 + / CD8 + ratio (mainly due to a decrease in CD4 + cells) and a decrease in the functional activity of T cells. On the part of serum immunoglobulin concentrations, the most characteristic change is a decrease or absence of IgA, less often concentrations of immunoglobulins close to normal or dysimmunoglobulinemia are detected in the form of a sharp decrease in IgA, IgG, IgE and a significant increase in IgM. A violation of antibody formation in response to polysaccharide and protein antigens is characteristic. methods cure A-T has not been developed to date. Patients need palliative care for neurological and somatic disorders. In case of detection of serious immunological changes and / or chronic or recurrent bacterial infections, antibiotic therapy(duration is determined by the severity of immunodeficiency and infection), replacement therapy with intravenous immunoglobulin, according to indications - antifungal and antiviral therapy.

Clinical characteristic. The disease begins in early childhood and is manifested primarily by cerebellar ataxia (100%). Rocking of the head and torso, gait disturbance, intentional tremor and choreoathetosis (90-100%) are noted. Characteristic changes in the eyes are a violation of the movement of the eyeball (80-90%), nystagmus (90-100%) and strabismus. At the age of 2 to 6 years, telangiectasias appear on the conjunctiva and open areas of the body, mucous membranes of the soft and hard palate. An important symptom of the syndrome are chronic respiratory infections(sinusitis and pneumonia, 60-80%). There is a growth retardation dark spots or areas of depigmentation on the skin, scleroderma, muscle hypotension, hyporeflexia, and dysarthria. Patients often develop malignant neoplasms, and in 10-30% the lymphoreticular system is affected.

Pathological anatomical examination reveals aplasia or hypoplasia of the thymus, a decrease in the size of the lymph nodes and spleen, signs cerebellar degeneration, fibrous ovarian dysplasia. With A-T, there is a violation of B- and T cell systems immunity, which is expressed in the absence of serum immunoglobulins, mainly IgA, but sometimes IgG and IgE. Cytogenetic examination of lymphocytes often reveals various chromosomal aberrations and chromosome fragility. Patients die from lung infections or from malignant neoplasms.

First place in clinical picture neurological symptoms appear, so the disease was first described as cerebellar ataxia. Between the ages of 2 and 8 years, telangiectasias develop, which are usually located on the bulbar conjunctiva, between the corner of the eye and the limbus, and look like red convoluted vessels. There is aplasia of the thymus, hypoplasia (underdevelopment) of the lymph nodes, spleen, group lymph follicles small intestine, tonsils. In children with Louis-Bar syndrome, hypoplasia (underdevelopment) or aplasia (complete absence) is constantly observed. palatine tonsils. The lacunae of the tonsils are underdeveloped. The cervical lymph nodes are small and do not enlarge during infections. Almost all children with Louis Bar syndrome have chronic purulent sinusitis often develop otitis.

The diagnosis is made on the basis of the clinical picture, as well as data laboratory indicators. All patients with Louis Bar syndrome almost completely lack T-suppressors. In some patients, cells cannot synthesize IgA, which is associated with the absence of T-helpers. A- and b-protein are found in the blood. Pathogenetic method of treatment is neonatal thymus allotransplantation. A course of injections of active thymus factors (T-activin, thymalin, thymacin, etc.) is prescribed, native plasma and normal human immunoglobulin are systematically injected.

Under our supervision was the girl K., she was admitted to the clinic at the age of 13 years and 10 months due to congenital immunodeficiency with ataxia (Louis-Bar syndrome), chronic pneumonia, polysegmental pneumosclerosis, purulent deforming endobronchitis, bronchiectasis in the acute phase, right-sided large-focal pneumonia complicated by generalized amyloidosis internal organs: liver with the development of cirrhosis and liver failure, kidneys, spleen, intestines, anemia, cachexia.

When a mother complains of icteric coloration of the skin, repeated vomiting, anorexia, general weakness, emaciation. From the anamnesis it is known that she was born full-term, with a low weight of 2,700 g, with an Apgar score of 6-7 points. She was breastfed and did not get sick for up to a year. From the second year of life there were frequent colds, emaciation began to progress, she suffered repeated pneumonia. From the age of 4, cerebellar ataxia was revealed. The girl was consulted in our clinic, in a clinic in Moscow, Louis-Bar syndrome was diagnosed. Since then, the phenomena of dystrophy, ataxia have progressed, she suffered repeated pneumonia. Diagnosed with chronic bronchiectasis. Repeatedly treated in the hospital. For the last 2 years of her life, the girl has not been able to walk, and changes in the liver and kidneys associated with amyloidosis have joined. 3 months before the last hospitalization she was in the clinic, the diagnosis was confirmed, she received complex therapy- broad-spectrum antibiotics, detoxification therapy, immunotherapy. The girl's condition has stabilized. Discharged home on a maintenance dose of drugs that improve metabolic processes liver and kidneys. 2 weeks before admission, the patient's condition deteriorated sharply, jaundice increased, complete anorexia was observed, and repeated vomiting appeared. Sent to the clinic.

Upon admission, the general condition was severe. The girl is sharply dystrophic. The skin and sclera are icteric, multiple "star" rash. The vascular pattern is expressed on the eyeballs. Inhibited, answers questions sluggishly. The position in bed is horizontal, sitting with support. Visible mucous membranes are pale. Pink tongue. Peripheral lymph nodes are small, single up to 0.5-1.0 cm in diameter, the submandibular ones are palpable. Pulse - 100. Respiratory rate - 40. BP - 100/60 mm Hg. Above the lungs percussion pulmonary sound, shortened in lower sections, auscultatory breathing hard, weakened in the lower parts, single moist fine bubbling rales are auscultated. The borders of the heart are expanded in diameter, the left one is along the anterior axillary line. The tones are muffled, rhythmic. The abdomen is enlarged in volume, soft on palpation, there is no ascites. The liver is dense, palpable 4 cm below the costal arch, the spleen is dense, palpable 5 cm below the costal arch at the entrance to the small pelvis. Pisses freely. The chair is designed, recovers independently.

Laboratory examinations

Blood test: Er. - 2.9 T / l, H b - 90 g / l, C.P - 0.9, Lake. - 8.2 G / l, anisocytosis and poikilocytosis are pronounced, p / i - 14%, s / i - 20%, l. - 64%, m. - 2%, ESR - 6 mm / h. Residual nitrogen blood - 54.5 g / l. Blood cholesterol - 4 µmol / l. AST - 0.35, ALT - 0.42. total bilirubin blood - 84.8 mmol / l, direct - 74.2, indirect - 10.6.

Sublimate test - 1.6. total protein blood - 64 g / l, albumins - 46.7, gamma globulins - 19%. Blood prothrombin - 75%.

Urinalysis: protein - 0.86 g / l, Lake. - 10-15, up to 25 in p / sp., Er. - 10 in p / sp., hyaline cylinders - 1-2, granular - 1-2 in p / sp.

On a chest x-ray: the lung tissue is moderately swollen, especially in lower lobes. The pulmonary pattern is strengthened, expanded, on the right in the middle lobe there is large-focal infiltration lung tissue without clear lines. The sinuses are free. The heart is normal. ECG: diffuse myocardial damage. Based on the anamnesis, objective data, clinical examination and observations made the above diagnosis.

Received therapy: in/in drip Ringer's solution, hemodez, plasma, korglucon, lasix, i.m. ampicillin, daily gamma globulin, sirepar, lipoic acid, methionine, prednisolone, oxygen therapy, diet number 7.

Despite the ongoing therapy, the girl's condition progressively worsened, the phenomena of liver and kidney failure increased, daily diuresis decreased, last days up to 300 g per day. In the lungs, the number of wheezing increased, respiratory and heart failure increased. 18 days after admission to the hospital, the state was agonizing, nosebleed appeared, there was an admixture of blood in the feces, tar-like stools, a liver smell appeared. Conducted resuscitation gave no effect. With the phenomenon of hepatic with the addition of respiratory and heart failure, the girl died on the 20th day of her stay in the clinic.

Pathological anatomical diagnosis

Basic: congenital immunodeficiency with ataxia - Louis-Bar syndrome. chronic pneumonia. Polysegmental pneumosclerosis, purulent deforming endobronchitis, bronchiectasis in the acute stage, right-sided macrofocal pneumonia.

Complications: generalized amyloidosis of internal organs: liver with the development of cirrhosis and liver failure, kidneys, spleen, intestines. Anemia. Cachexia.

A feature of this clinical case can be considered a rare frequency of occurrence, a characteristic clinical and laboratory picture of the disease, the slow progression of the development of the Louis Bar syndrome, the age of the patient.

Bibliography

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2. Bochkov N.P., Lopuchin Y. M., Kuleshov N. R., Kovalchuk L.V. Cytogenetic study of patients with ataxia-telangiectasia // Humangenetik. - 1974. - V. 24. - P. 115-12K.

3. McParlin D., Strober W., Waldmann T. Ataxia-teleangiectasia. // medicine. - 1972. - V. 51. -P. 281-305.

4. Shcherbina A.Yu., Pashanov E.D. Immunology childhood. — M.: Medpraktika, 2006. — S. 131-133.

5. Kozlova S.I., Semanova E.P., Demikova N.S., Blinnikova O.E. Hereditary syndromes and medical genetic counseling: a Handbook. - L .: Medicine, 1987. - 320 p.

As you know, there are many different chromosomal anomalies that are laid even in the period of intrauterine development. Geneticists study these pathologies. AT last years This area of ​​medicine is actively developing, so in the near future such diseases will be easier to diagnose and treat. Fortunately, these anomalies are very rare. This is due to improved fetal diagnosis. One of the pathologies associated with chromosomal disorders, is the Louis-Bar syndrome. In most cases, this disease is detected in the first year of a baby's life, but sometimes it makes itself felt only by 6-7 years.

Louis-Bar Syndrome - what is this pathology?

This pathology refers to congenital genetic defects. In most cases, it is inherited. Ataxia-telangiectasia (Louis-Bar syndrome) is extremely rare. This disease has specific manifestations that make it possible to diagnose this pathology. To put accurate diagnosis, a consultation of doctors is needed to confirm or refute the presence of a terrible anomaly.

History and epidemiology of the disease

This syndrome is very rare. Its frequency is about 1 case per 40 thousand of the population. The disease was first discovered by a French woman scientist, Louis-Bar. She combined the syndromes characteristic of this pathology into one nosology. This happened in 1941. After that, several more cases of the disease were discovered around the world. Since this anomaly is extremely rare, it is impossible to say with certainty what the etiology of Louis-Bar syndrome is. It is believed that the appearance of the disease does not depend on climatic conditions. Therefore, the syndrome can occur in any region. In addition, there are no data that would link the incidence with the sex of the patient. That is, the Louis-Bar syndrome is observed with the same frequency in both boys and girls.

Reasons for the development of pathology

This developmental anomaly is laid in the first trimester of pregnancy. The disease is transmitted only by inheritance. The syndrome is an autosomal recessive genetic pathologies. This means that a child will definitely inherit the disease if both parents have a chromosome disorder. If an anomaly is observed in one of them (regardless of gender), then the chance of Louis-Bar syndrome in a baby is 50%. The main cause of the mutation is a violation of the long arm of the 11th chromosome. The exact factors that lead to this genetic rearrangement are unknown. But there are a number of harmful effects that affect embryonic development. First of all, these factors environment(irradiation, poisoning with toxic substances). Also in the first trimester of pregnancy, stress is very dangerous.

Louis Bar syndrome: pathogenesis of the disease

Like most congenital chromosomal pathologies, this syndrome covers several organs and systems at once. The main targets of this disease are the human brain and immune system. There is also a pronounced lesion skin. All clinical manifestations of this disease are associated with the mechanism of its development. First of all, degenerative processes are observed in the central nervous system. Namely, cerebellar ataxia. At the same time, some elements do not develop (Purkinje fibers and granular cells). Others visible violations skin manifestations are telangiectasias. They are dilated vessels, which are especially pronounced on the face (injection of the sclera, auricles, nose). Cerebellar ataxia and telangiectasias are collectively referred to as Louis-Bar syndrome. Children born with this disease can be identified in the first years of life, since the anomaly is manifested by severe physical disorders (developmental delay, unstable body position, muscle weakness).

In addition, the pathogenesis of the disease includes insufficiency of the immune system (T-lymphocytes). In children suffering from this pathology, hypo- or complete aplasia of the thymus is observed. As a result, cellular immunity is very poorly developed and is not able to protect the body from infectious processes.

Symptoms of ataxia-telangiectasia

The severity of the clinical picture depends on the degree of damage to the cerebellum and hypoplasia of the thymus gland. This determines how Louis-Bar syndrome will manifest itself. Symptoms of the disease:

1. Cerebellar ataxia. This syndrome manifests itself earlier than others, usually in the first year of life. It becomes pronounced by the time you start walking on your own. Children with ataxia of the cerebellum often cannot stand or walk normally. In more favorable cases, unsteadiness of gait and tremor of the limbs are observed. In addition, neurological symptoms are expressed in muscle weakness, dysarthria of varying degrees (slurred speech) and strabismus.
2. Telangiectasias. Skin manifestations Louis Bar syndrome are less dangerous. They usually make themselves felt at the age of 3 to 6 years. Telangiectasias are dilated capillaries, which are called " spider veins". Most of all, they are noticeable on open areas of the body, in particular on the face. Dilated vessels are often found in the eyes, on the nose and ears, and on the flexor surfaces of the arms and legs.
3. Tendency to infections. Due to severe immunodeficiency, the body cannot cope with harmful agents on its own. As a result, the child often develops various infections. Often these are chronic diseases of the respiratory tract - pharyngitis, laryngitis, tonsillitis, pneumonia.
4. tumor processes. Due to thymus hypoplasia, in addition to infectious processes, the body becomes susceptible to cancer. Most often, these are tumors of the hematopoietic and lymphoid tissue. If Louis-Bar syndrome in a child is reliable diagnosis, then he is strictly prohibited from treating cancer with ionizing radiation.

Diagnosis of ataxia-telangiectasia

Diagnosis of the Louis-Bar syndrome is usually not very difficult, since its symptoms are quite specific. It is possible to suspect this disease from the first years of life according to the clinical picture. Neurological symptoms (cerebellar ataxia, muscle weakness, tremor and strabismus) in combination with telangiectasias are an indication for the diagnosis of this pathology.

If Louis-Bar syndrome is suspected, several specialists should be consulted at once. Among them: a neurologist, a dermatologist, an oncologist, an infectious disease specialist, an endocrinologist and a geneticist. In addition to the clinical examination, laboratory and instrumental diagnostics. Immunological analyzes are carried out, in which there is a decrease or complete absence of elements of cellular immunity (decrease in T-lymphocytes, immunoglobulins A, G). In the KLA, leukocytosis and accelerated ESR are observed, which indicates inflammatory process in the body. Instrumental diagnostics is also important. A chest x-ray is performed (thymus size reduction), brain MRI (degenerative processes). At present, in addition to standard research, carry out genetic (examine the violation of the 11th chromosome), on the basis of which an accurate diagnosis is made.

Treatment of Louis Bar syndrome

Unfortunately, etiological treatment chromosomal abnormalities in this moment not developed. Therefore, with this pathology, only symptomatic therapy and constant monitoring of the patient are carried out. First of all, treatment is aimed at improving the functioning of the immune system. This is necessary to avoid infections and tumor processes. For this purpose, gamma globulin and the drug "T-activin" are used. With the development inflammatory diseases use antibacterial and antiviral agents. Unfortunately, the syndrome of cerebellar ataxia is not amenable to complete treatment. To stop degenerative processes, nootropic drugs are used. At oncological diseases resort to chemotherapy and surgery.

Prognosis for life in Louis-Bar syndrome

Despite the severity of the disease, timely diagnosis and treatment can prolong and make a child's life easier. To this end, palliative care has been developed for such patients. Unfortunately, the Louis Bar anomaly can progress quickly. In this case, the life expectancy is 2-3 years. Sometimes the disease does not develop for several years. At the same time, life expectancy is significantly increased. Maximum age patients are considered to be 20-30 years old. In most cases, the causes of death are infectious and neoplastic processes, sometimes neurological disorders.

Prevention of Louis Bar syndrome

To avoid the development of this pathology, it is necessary to carry out genetic testing fetus still on early dates pregnancy. It is also important to know the anamnesis not only of the parents of the unborn child, but also of other family members. Should be avoided during pregnancy harmful effects environment and psycho-emotional stress.

If a baby with such an anomaly has already been born, then it is important to fulfill all the doctor's prescriptions, to protect the child from infectious agents. At weak immunity and disturbed physical development it is necessary to diagnose Louis-Bar syndrome in a timely manner. Photos of children with this disease can be seen in the special medical literature.