Louis Bar syndrome is not so common in medical practice, but, nevertheless, modern doctors are especially afraid of this disease. It is a hereditary disease associated with immunodeficiency that spreads exclusively in an autosomal recessive manner. In the course of the pathological process, one of two lesions of the immune system predominates, in particular, cellular immunity suffers. Such losses in the body are irreplaceable, and it is sometimes simply unrealistic to provide the patient with a full life.
Talking about the pathogenesis of Louis Bar syndrome, it is worth noting that patients with such a diagnosis are characterized by the absence of the thymus, as well as underdevelopment of the lymph nodes and spleen. In addition, the organs of the periphery of the immune system are not fully formed, thereby causing a pathogenic effect on the human resource from various microorganisms.
The cause of this pathology is obvious - a genetic imbalance, against the background of which neuroectodermal dysplasia predominates even in the prenatal period. Having an autosomal recessive origin, the characteristic ailment is transmitted when a recessive gene is received from both parents at once.
Against the background of such an anomaly, degenerative changes in the cerebellum progress, which directly affect its dentate nucleus, substantia nigra and certain "links" of the cerebral cortex. Such a wide range of action simply cannot but affect the genetic and molecular level, and a newborn is born with a terrible diagnosis.
In the etiology of Louis Bart's syndrome, congenital deficiency of IgA and IgE also predominates, which entails an increase in the frequency of infection of the body and prolonged treatment of the prevailing diseases. Immunity impaired at the genetic level is also fraught with the formation of malignant tumors and cancer cells. So it is extremely important for a detailed diagnosis and timely treatment of a small patient.
Symptoms
As a rule, the symptoms of Louis Bart syndrome begin to appear at the age of five months to three years, but deviations are especially noticeable when the baby begins to move independently, even if not for long distances.
So, signs of ataxia on the face: a wobbly and unsteady gait, impaired coordination of movements, tremors of the limbs, swaying of the body and frequent twitching of the head. The characteristic signs in the affected organism are often so obvious that the patient is simply not able to move independently. In addition, there is impaired speech, absence of tendon reflexes, muscle hypotonia, strabismus and other deviations in the structure and functionality of the eyes.
With this disease, infectious diseases of the respiratory tract and ear of a recurrent nature very often progress. It can be chronic rhinitis, otitis media, pharyngitis, sinusitis, bronchitis, less often pneumonia and pneumonia. However, it is important to understand that each subsequent relapse only worsens the general condition, bringing the lethal outcome closer.
Another eloquent symptom of Louis Bar's syndrome is spider veins, which usually appear at 3-6 years of age. They are provoked by pathogenic expansion of small capillaries, but they can also indicate the presence of other diseases.
Telangiectasia begins on the eyeball in the form of trivial conjunctivitis, but very soon a characteristic visual defect predominates on the skin of the eyelids, neck, nose, face, elbows and the back of the hand. Also, increased dryness of the skin, hyperemia, early hair loss and an increase in the number of vascular networks on the skin prevail.
Louis Bart's syndrome can be accompanied by the appearance of malignant neoplasms, represented by lymphoma and leukemia. However, it is advisable to study the clinic of these pathological processes on an individual basis.
Diagnostics
If the local therapist has a suspicion of the presence of Louis Bart syndrome, then he refers him to a narrow specialist. However, consultation with an immunologist is not at all enough, because you should also show your problem to a neurologist, dermatologist, ophthalmologist, pulmonologist, oncologist and otolaryngologist. It is extremely important to differentiate Louis-Bar syndrome with Randu-Osler disease, Friedreich's attack, Pierre-Marie ataxia and, of course, the little-studied Hippel-Lindau syndrome.
The final diagnosis will be made by a neurologist, however, it is unrealistic to do this without a detailed diagnosis. That is why it is imperative to undergo instrumental and laboratory research to obtain a detailed clinical picture.
The most popular survey methods are presented below:
- in the general analysis of blood, a pathological decrease in the number of lymphocytes can be observed;
- determination of the level of blood immunoglobulins allows to detect a decrease in IgA and IgE, as well as to reliably determine the presence of autoantibodies to mitochondria, immunoglobulin and thyroglobulin;
- Ultrasound helps characterize aplasia and hypoplasia of the thymus;
- MRI of the brain to diagnose degradation of the cerebellum and pathogenic expansion of the IV ventricle;
- Radiography determines the presence of pneumonia, foci of pneumosclerosis, as well as the predominance of bronchiectasis.
When all the results of the diagnosis, as well as the preliminary conclusion of narrow specialists, will be in the hands of the neurologist, he will finally decide on the final diagnosis and prescribe a specific treatment regimen.
Prevention
Preventive measures are not particularly effective, since the pathological process prevails in the direct formation of the embryo in the prenatal period.
The disease is hereditary and prevails at the genetic level, so it is very problematic to protect your unborn child from a terrible fate.
Doctors, when identifying a characteristic problem at one of the screenings during pregnancy, suggest that the expectant mother should prematurely stimulate labor.
Treatment
In modern medicine, a panacea for this disease has not been found, but what can I say, doctors cannot even decide on a general treatment regimen. However, this clinical picture clearly requires an integrated approach.
- A long course of antibiotic therapy is needed, which allows you to quickly exterminate secondary bacterial infections as the main cause of immunodeficiency.
- Along with taking antibiotics, a course of gamma globulins, immunostimulants, multivitamin complexes and even dietary supplements is required for the general strengthening of a weakened human resource.
- In childhood, physiotherapy is required, represented by individual lessons with a speech therapist on the formulation of speech.
However, one way or another, therapy should be based on the underlying disease. If it is diabetes mellitus, then the treatment regimen cannot do without oral antihyperglycemic drugs and insulin. If there is a rapidly progressing tumor, then its immediate removal by surgery is required. So when treating it is important to take into account all the nuances, and then it will be, indeed, effective.
(ataxia-telangiectasia) is a hereditary disease manifested by cerebellar ataxia, telangiectasia of the skin and conjunctiva of the eyes, insufficiency of the T-cell link of immunity. The latter leads to the fact that Louis-Bar syndrome is accompanied by frequent respiratory infections and a tendency to develop malignant tumors. Louis-Bar syndrome is diagnosed on the basis of anamnesis and clinical picture of the disease, immunogram data, results of ophthalmological and otolaryngological examinations, MRI of the brain and radiography of the lungs. Currently, Louis-Bar syndrome has no specific and effective treatment.
General information
Louis-Bar syndrome was first described in 1941 in France. There is no exact data on the frequency with which Louis-Bar syndrome occurs among the modern population. According to some reports, this figure is 1 case per 40 thousand newborns. However, it must be borne in mind that with death in early childhood, Louis-Bar syndrome usually remains undiagnosed. It is known that the disease affects boys and girls equally often. In neurology, Louis-Bar syndrome refers to the so-called phacomotosis - genetically determined combined lesions of the skin and nervous system. This group also includes Recklinghausen neurofibromatosis, Sturge-Weber angiomatosis, tuberous sclerosis, etc.
Causes and pathogenesis of Louis-Bar syndrome
The pathological changes accompanying Louis-Bar syndrome are based on genetic disorders leading to the development of congenital neuroectodermal dysplasia. Louis-Bar syndrome is an autosomal recessive disease, that is, it manifests itself clinically only when a recessive gene is received from both parents at once.
Morphologically, ataxia-telangiectasia is characterized by degenerative changes in cerebellar tissues, in particular the loss of granular and Purkinje cells. Degenerative changes can affect the dentate nucleus of the cerebellum (nucleus dentatus), substantia nigra (substantia nigra) and some parts of the cerebral cortex, sometimes the spinocerebellar tract and posterior columns of the spinal cord are affected.
Louis-Bar syndrome is combined with hypoplasia or aplasia of the thymus, as well as congenital deficiency of IgA and IgE. These disorders in the immune system lead to the emergence of frequent infectious diseases in patients, prone to a long and complicated course. In addition, immune disorders can potentiate the development of malignant neoplasms, which often originate in the structures of the lymphoreticular system.
Clinical manifestations of Louis-Bar syndrome
Ataxia. Most often, Louis-Bar syndrome begins to manifest clinically between the ages of 5 months and 3 years. In all cases of the disease, Louis-Bar syndrome manifests itself with the onset of cerebellar ataxia, the signs of which become apparent when the child begins to walk. There are imbalances in balance and gait, tremors during a motor act (intentional tremor), swaying of the body and head. Often the ataxia is so severe that the patient with Louis-Bar syndrome cannot walk. Cerebellar ataxia is combined with cerebellar dysarthria, characterized by slurred chanting speech. Muscle hypotension, decrease or complete disappearance of tendon reflexes, nystagmus, oculomotor disorders and strabismus are noted.
Telangiectasia. In most cases, the appearance of telangiectasias accompanying Louis-Bar syndrome occurs between the ages of 3 and 6 years. In some cases, their occurrence is noted at a later period and very rarely during the first month of life. Telangiectasias (spider veins) are reddish or pink spots or ramifications of various shapes. They are caused by the expansion of the small vessels of the skin. It should be noted that telangiectasias can be a manifestation of many other diseases (for example, rosacea, SLE, dermatomyositis, pigmented xeroderma, chronic radiation dermatitis, mastocytosis, etc.). However, in combination with ataxia, they give a clinical picture specific to Louis-Bar syndrome.
Louis-Bar syndrome is characterized by the initial occurrence of telangiectasias on the conjunctiva of the eyeball, where they look like "spiders". Then spider veins appear on the skin of the eyelids, nose, face and neck, elbow and knee folds, forearms, dorsum of feet and hands. Telangiectasias can also occur on the mucous membrane of the soft and hard palate. The spider veins are most pronounced in those places of the skin where it is exposed to sunlight. First of all, this is the face, where telangiectasias form whole "bundles". At the same time, the skin loses its elasticity and becomes dense, which resembles the changes typical for scleroderma.
Cutaneous manifestations of ataxia-telangiectasia may include freckles and coffe-au-lait spots, and areas of discolored skin. The presence of hypo- and hyperpigmentation makes the skin symptoms of Louis-Bar syndrome similar to the clinic of poikiloderma. Many patients have dry skin and areas of hyperkeratosis. Hypertrichosis, early gray hair, skin elements resembling acne or manifestations of psoriasis can be observed.
Respiratory tract infections. Damage to the immune system, characteristic of Louis-Bar syndrome, leads to the occurrence of frequent recurrent infections of the respiratory tract and ear: chronic rhinitis, pharyngitis, bronchitis, pneumonia, otitis media, sinusitis. Their features are: blurred boundaries between the period of exacerbation and remission, scarcity of physical data, poor sensitivity to antibiotic therapy and a long course. Each such infection can become fatal for a patient with ataxia-telangiectasia. Frequent lung diseases lead to the development of bronchiectasis and pneumosclerosis.
Malignant neoplasms. Among patients with Louis-Bar syndrome, malignant neoplastic processes are noted 1000 times more often than the average in the population. The most common among these are leukemia and lymphoma. A feature of oncopathology in the case of Louis-Bar syndrome is the increased sensitivity of patients to the effects of ionizing radiation, which completely excludes the use of radiation therapy in their treatment.
Diagnostics of the Louis-Bar syndrome
The diagnosis of ataxia-telangiectasia requires an integrated approach that takes into account the history of the disease, its clinical manifestations, data from immunological and instrumental studies, as well as the results of DNA diagnostics. A patient with suspected Louis-Bar syndrome should be examined not only by a neurologist, but also by a dermatologist. With the help of ultrasound, aplasia or hypoplasia of the thymus is diagnosed. MRI of the brain reveals cerebellar atrophy, expansion of the IV ventricle. Radiography of the lungs is necessary to diagnose focal or lobar pneumonia, to identify foci of pneumosclerosis and bronchiectasis.
Louis-Bar syndrome should be differentiated from Friedreich's ataxia, Randu-Osler's disease, Pierre-Marie's ataxia, Hippel-Lindau's disease, etc.
Treatment and prognosis of Louis-Bar syndrome
Unfortunately, effective treatments for Louis Bar Syndrome are still the subject of research. In modern medicine, it is possible to use only palliative symptomatic treatment of somatic and immunological disorders. The prolongation of the life of patients with Louis-Bar syndrome is facilitated by immunocorrective therapy with thymus and gamma globulin preparations, vitamin therapy in high dosages and intensive therapy of any infectious process. According to indications, antiviral drugs, broad-spectrum antibiotics, antifungal agents, glucocorticosteroids are used.
Due to the lack of effective treatments, Louis Bar syndrome has an unfavorable prognosis for both recovery and life. Patients with this disease rarely live up to 20 years. In most cases, they die from infectious complications and cancer.
Louis-Bar syndrome (congenital ataxia-tel-angi-ectasia - AT) is a congenital immunodeficiency state with a predominant lesion of the T-link of immunity, characterized by abnormal development of embryonic anlages and, apparently, improper interaction of ectoderm and mesoderm. Louis Bar syndrome is a genetic disorder that is inherited in an autosomal recessive manner. First described in 1941 by D. Louis - Barr. The population frequency is unknown. Sex ratio: m: w - 1: 1.
Immunodeficiency and chromosomal instability are markers of AT (Ataxia - Teteangiectasia Mutated), which encodes the synthesis of the kinase of the same name. The cells of patients with AT are characterized by increased sensitivity to radiation, defects in the cell cycle, clinical manifestations and immunological disorders have significant differences, there is an increased incidence of malignant tumors and spontaneous chromosomal instability, chromosomal breakdowns, involving mainly the 7th and 14th chromosomes ...
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, then the cell cycle is restored, if not, cell death occurs by apoptosis or a mutant clone develops. Normally, the cell cycle when exposed to radiation can be blocked at two critical points - the transition from the Gl-phase to the S-phase and / or from the G 2-phase to the M-phase. With AT, the control of the cell cycle at critical points is impaired. Double-stranded DNA breaks occur during the recombination of immunoglobulin and T-cell receptor genes. Processes resembling the recombination of immunoglobulin genes occur during the maturation of brain neurons. It is obvious that many clinical and immunological manifestations in patients with AT, such as disorders in the synthesis of immunoglobulins, the function of the genital organs and the nervous system, are associated with DNA repair defects in these cases.
Clinical manifestations of AT can differ significantly in different patients. Progressive cerebellar ataxia and telangiectasia are present in everyone, and coffee-and-milk spots are common on the skin. The propensity for infections ranges from very severe to very moderate. The incidence of malignant neoplasms, mainly of the lymphoid system, is very high. Immunological changes in patients with AT are disorders of 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 the concentrations of serum immunoglobulins, the most characteristic change is a decrease or absence of IgA, less often the concentrations of immunoglobulins close to normal are detected, or dysimmunoglobulinemia in the form of a sharp decrease in IgA, IgG, IgE and a significant increase in IgM. Characterized by a violation of antibody production in response to polysaccharide and protein antigens. Methods for curing AT have not yet been developed. Patients need palliative therapy for neurological and somatic disorders. If serious immunological changes and / or chronic or recurrent bacterial infections are detected, antibacterial therapy is indicated (the duration is determined by the severity of immunodeficiency and infection), replacement therapy with intravenous immunoglobulin, and, if indicated, antifungal and antiviral therapy.
Clinical characteristics. The disease begins in early childhood and manifests itself primarily as cerebellar ataxia (100%). Swinging of the head and trunk, gait disturbance, intentional tremor and choreoathetosis (90-100%) are noted. Characteristic changes in the eyes are impaired 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, the mucous membrane of the soft and hard palate. An important symptom of the syndrome is chronic respiratory infections (sinusitis and pneumonia, 60-80%). Growth retardation, age spots or areas of depigmentation on the skin, scleroderma, muscle hypotonia, hyporeflexia and dysarthria are observed. Patients often develop malignant neoplasms, and the lymphoreticular system is affected in 10-30%.
Pathological examination reveals aplasia or hypoplasia of the thymus, a decrease in the size of the lymph nodes and spleen, signs of cerebellar degeneration, fibrous ovarian dysplasia. With AT, there is a violation of the B- and T-cell systems of immunity, which is expressed in the absence of serum immunoglobulins, mainly IgA, but sometimes IgG and IgE. In the cytogenetic study of lymphocytes, various chromosomal aberrations and fragility of chromosomes are often found. Patients die from lung infections or from malignant neoplasms.
The first place in the clinical picture is neurological symptoms, so the disease was initially described as cerebellar ataxia. At the age of 2 to 8 years, telangiectasias occur, which are usually located on the bulbar conjunctiva, between the corner of the eye and the limbus, and have the appearance of red convoluted vessels. There is aplasia of the thymus gland, hypoplasia (underdevelopment) of lymph nodes, spleen, group lymphatic follicles of the small intestine, tonsils. In children with Louis-Bar syndrome, hypoplasia (underdevelopment) or aplasia (complete absence) of the palatine tonsils is constantly observed. Lacunae of the tonsils are underdeveloped. Cervical lymph nodes are small and do not enlarge during infections. Almost all children with Louis-Bar syndrome have chronic purulent sinusitis, and otitis media often develops.
The diagnosis is made on the basis of the clinical picture, as well as laboratory data. All patients with Louis-Bar syndrome are almost completely devoid of T-suppressors. In some patients, cells cannot synthesize IgA, which is associated with the absence of T-helpers. A- and b-protein is found in the blood. The pathogenetic method of treatment is allotransplantation of the neonatal thymus gland. A course of injections of active factors of the thymus gland (T-activin, thymalin, thymacin, etc.) is prescribed, native plasma and normal human immunoglobulin are systematically administered.
The girl K. was under our supervision, she was admitted to the clinic at the age of 13 years and 10 months for a congenital immune deficiency state 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 of internal organs: liver with the development of cirrhosis and liver failure, kidneys, spleen, intestines, anemia, cachexia.
When the mother complains of icteric staining 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 - 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, frequent colds were noted, emaciation began to progress, and she suffered repeated pneumonia. Cerebellar ataxia was diagnosed at 4 years of age. The girl was consulted in our clinic, in a clinic in Moscow, Louis-Bar syndrome was diagnosed. Since then, the symptoms of dystrophication, ataxia, and repeated pneumonia have progressed. Diagnosed with chronic bronchiectasis. She was repeatedly treated in a hospital. For the last 2 years of her life, the girl does not walk; 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. She was discharged home on a maintenance dose of drugs that improve the metabolic processes of the 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.
On admission, the general condition was serious. The girl is sharply dystrophied. The skin and sclera are icteric, with multiple "stellate" 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. The tongue is pink. Peripheral lymph nodes are small, single up to 0.5-1.0 cm in diameter, submandibular are palpable. Pulse - 100. RR - 40. HELL - 100/60 mm Hg. Above the lungs, percussion-pulmonary sound, shortened in the lower sections, auscultatory breathing is hard, weakened in the lower sections, single moist fine-bubbling rales are heard. The borders of the heart are expanded in diameter, the left one along the anterior axillary line. The tones are muted, rhythmic. The abdomen is enlarged, soft on palpation, 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. Urine freely. The chair is decorated, recovers independently.
Laboratory examinations
Blood test: Er. - 2.9 T / l, H b - 90 g / l, Ts.P - 0.9, Lake. - 8.2 G / l, pronounced anisocytosis and poikilocytosis, s / i - 14%, s / i - 20%, l. - 64%, m. - 2%, ESR - 6 mm / hour. Residual blood nitrogen - 54.5 g / l. Blood cholesterol - 4 μmol / l. AST - 0.35, ALT - 0.42. Total blood bilirubin - 84.8 mmol / l, direct - 74.2, indirect - 10.6.
Sublimate test - 1.6. Total blood protein - 64 g / l, albumin - 46.7, gamma globulins - 19%. Blood prothrombin - 75%.
Urine analysis: protein - 0.86 g / l, Lake. - 10-15, up to 25 in f / sp., Er. - 10 in p / sp., Hyaline cylinders - 1-2, granular - 1-2 in p / sp.
Chest X-ray: the lung tissue is moderately swollen, especially in the lower lobes. The pulmonary pattern is strengthened, expanded, on the right, in the middle lobe, there is a large-focal infiltration of the lung tissue without clear contours. The sinuses are free. The heart is normal. ECG: diffuse myocardial damage. Based on the history, objective data, clinical examination and observation, the above diagnosis was made.
Received therapy: intravenous drip Ringer's solution, hemodez, plasma, korglucon, lasix, ampicillin intramuscularly, daily gamma globulin, sirepar, lipoic acid, methionine, prednisolone, oxygen therapy, diet No. 7.
Despite the ongoing therapy, the girl's condition progressively worsened, hepatic and renal insufficiency increased, daily urine output decreased, in the last days up to 300 g per day. The number of wheezing increased in the lungs, respiratory and heart failure increased. 18 days after admission to the hospital, the condition was agonizing, nosebleeds appeared, there was an admixture of blood in the feces, the stool was tar-shaped, and hepatic odor appeared. The ongoing resuscitation measures had no effect. With the appearance of hepatic disease with the addition of respiratory and heart failure, the girl died on the 20th day of her stay in the clinic.
Pathological diagnosis
Basic: congenital immunodeficiency state with ataxia - Louis-Bar syndrome. Chronic pneumonia. Polysegmental pneumosclerosis, purulent deforming endobronchitis, bronchiectasis in the acute stage, right-sided large-focal 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, a slow progression of the development of Louis-Bar syndrome, and the patient's age.
Louis Bar Syndrome is a hereditary disease, which in the medical environment is called "atacasia-telangiectasia". The essence of the syndrome lies in the congenital abnormal immune state of the body. Subsequently, this manifests itself in a lack of a T-cell link, cerebellar ataxia, conjunctivitis, and skin telangliecasia.
If Louis Bar syndrome is not diagnosed at an early age, when it occurs most often, then death is possible.
Pathological changes that are at the heart of the syndrome, have several classifications and are considered as degeneration or phakomatosis of the spinal cord. Degradation of cerebellar tissue is accompanied by the loss of granular cells, as well as Purier cells. These deviations are capable of causing damage to the dentate nucleus of the cerebellum, a few sections of the cerebral cortex, as well as the posterior columns of the spinal cord.
These same genetic disorders lead to the progression of congenital neuroectodermal dysplasia.
The syndrome is also combined with aplasia of the thymus and inherited deficiency of IgA and IgE, which, in turn, with significant impairment of immunity, leads to frequent infectious diseases, which, if left untreated for a long time, lead to complications.
Prevalence
The syndrome is inherited by means of an autosomal recessive type... If we take the case with one sick parent, then the percentage of the birth of a child with Louis-Bar syndrome is 50% out of 100%.
Ask your question to the doctor of clinical laboratory diagnostics
Anna Ponyaeva. Graduated from the Nizhny Novgorod Medical Academy (2007-2014) and the Residency in Clinical and Laboratory Diagnostics (2014-2016).
The most common manifestation occurs between the ages of 5 months and 3 years. If signs are absent at such an early age, then the syndrome is perfectly noticeable during the first steps of the child, since cerebellar ataxia occurs. The disease has no dependence on gender, race or other external factors.
Causes
It was previously said that the syndrome has a hereditary way of acquiring... In the case when one of the parents is sick, the probability is 50%, and in the case when both parents are sick, the probability is 100%.
Modern medicine is able to carry out diagnostics of such a level to reveal the predisposition of the fetus to the syndrome at the stage of formation. Unfortunately, even this does not guarantee complete success, since the doctor makes only assumptions, and the syndrome can "deceive" the results.
Nevertheless, in order to increase the chance of having a healthy child, it is necessary to exclude all harmful factors affecting the body, even before conception begins. These factors are:
- alcohol and smoking abuse;
- stressful condition;
- external chemical action.
Classification
The syndrome can appear both from birth and after some time. Late manifestations of the syndrome usually occur in children 6-7 years old.
Syndrome, if manifested from birth, more often characterized by the appearance of cerebellar ataxia... Its signs are clearly visible at the time when the child takes his first steps, since the balance is completely disturbed, there is an intentional tremor. Sometimes, it comes to the point that with pronounced symptoms, the child cannot walk at all. Usually, ataxia is associated with cerebellar dysarthria (motor impairment) and nystagmus (involuntary high frequency eye movements).
The body's predisposition to frequent infectious diseases, malignant or benign neoplasms is called Louis Bar syndrome. Quite rare, but at the same time a very dangerous disease, it is inherited and occurs once in 40 thousand people. However, this figure is rather arbitrary, since the disease cannot always be diagnosed. So, in early infancy, a baby may die from this ailment, but the reason will remain unclear.
The disease was first diagnosed in 1941 by the French physician Louis Bar. The disease is autosomal recessive disease.
- means that it manifests itself in the case of a disease in both parents.Autosomal recessive
Louis Barr's syndrome is the defeat of the T-link of the immune system, which ultimately leads to its malformation. The result is the frequent occurrence of infectious diseases in a child, and with each new disease its severity increases, which affects the consequences and general condition of the baby. Later (sometimes in parallel with infections), neoplasms (usually malignant) can grow in the baby.
As a rule, a sick child can be seen, since during the course of the disease, skin disorders are formed in the patient, an uneven gait appears (as a result of damage to the cerebellum), and developmental lag.
The reasons for the development of the disease
As mentioned earlier, Bar's syndrome is a hereditary disease and is only inherited. If only one of the parents has chromosomal abnormalities, the child will acquire this ailment with a 50% probability, but if both parents, then the probability of the baby's illness is 100%.
Currently, the level of diagnosis is quite high and allows you to identify possible problems even at the stage of embryo formation, however, this syndrome is insidious and often the doctor only makes an assumption that the child can acquire and gives an approximate percentage, which encourages the expectant mother.
Eye manifestations
In order not to torment yourself with such experiences, it is enough to know which factors have a negative impact on the development of the syndrome, including:
- bad habits during pregnancy (smoking, alcohol abuse);
- frequent stresses of the expectant mother;
- external influence (toxic substances, radioactive radiation).
Symptoms of the disease
Like any other disease, Louis Bar's syndrome has its own distinctive features, so patients may experience the following symptoms:
- cerebellar ataxia;
- telangiectasia;
- infectious predisposition;
- neoplasms.
Cerebellar ataxia
This symptom manifests itself almost from the first months of life, but with the naked eye it becomes noticeable at the time when the baby begins to learn to walk. In the course of damage to the cerebellum, the child develops an unsteady gait. In more severe forms, the baby cannot move independently or even stand.
Facial manifestations
In addition, the patient may develop strabismus, oculomotor problems, nystagmus, the patient may lose or decrease tendon reflexes. In addition, as a result of the disease, cerebellar dysarthria can develop, which manifests itself in the form of slurred speech.
Dysarthria is a limitation of the mobility of the organs of speech (palate, tongue, lips).
Telangiectasia
This symptom is less dangerous than the previous one, but it can cause some inconvenience to the baby. Telangiectasia - means the presence of dilated capillaries on the skin, which look like pink or red stars or spiders. As a rule, asterisks from the blood capillaries begin to form by the age of 3-6 years of the baby's life.
The most common places of formation:
- eyeball;
- conjunctiva of the eyes (the mucous membrane of the eye behind the lower eyelid);
- the back of the feet;
- places of folds (elbows, knees, armpits).
At the very beginning, telangiectasia manifests itself on the conjunctiva of the eyes, after which the skin of the face suffers and gradually sinks down the body. There have been cases of the formation of such "stars" on the soft palate.
Among other things, skin rashes in Louis Bart's syndrome include freckles, dry skin, early gray hair (in the case of young children, this is especially noticeable).
Infectious predisposition
Any child gets sick, but as for Louis Bar syndrome, this happens abnormally often and each time the severity of these diseases increases, but any infection can cause the death of the patient.
Skin manifestations
As a rule, the disease causes only respiratory and ear infections (rhinitis, pharyngitis, bronchitis, otitis media, sinusitis).
It is worth noting that such infections are less susceptible to treatment than ordinary diseases, which causes a rather long healing process.
Neoplasms
As a rule, in the presence of Bar's syndrome, the patient is 1000 times more likely to develop malignant oncological neoplasms. The most common of these are leukemia and lymphoma.
The main difficulty associated with the treatment of such patients is the impossibility of using radiation therapy, due to hypersensitivity patients to ionizing radiation.
Diagnostics
Clinical manifestations are not enough to make a diagnosis, since many of the symptoms of this disease are characteristic of others.
ailments. As a rule, a consultation of doctors is required, in which includes:
- dermatologist;
- otolaryngologist;
- ophthalmologist;
- immunologist;
- pulmonologist;
- oncologist;
- neurologist.
Among other things, the patient is prescribed the following tests:
Instrumental diagnostics includes:
- ultrasound (ultrasound) of the thymus;
the body's immune T cells matureThymus - or thymus gland, an organ in which
- magnetic resonance tomography (MRI);
- pharyngoscopy;
- rhinoscopy;
- radiography of the lungs.
When decoding blood tests, a low lymphocyte count is possible. In the study of immunoglobulin, a decrease in IgA and IgE is usually noted.
IgA and IgE - antibody titers of A level are responsible for local immunity, and E for allergic reactions.
In addition, it is possible to detect autoantibodies to mitochondria, thyroglobulin and immunoglobulin in the blood.
Autoantibodies - aggressive, attacking their own
Mitochondria - involved in the formation of energy
Thyroglobulin - a protein, a precursor of the thyroid hormone, is found in the blood of most healthy people
Treatment
Treatment of Louis Bart syndrome is currently an open question and there is no effective way to eliminate this ailment yet. The basis of therapy is the elimination of the emerging symptoms and the prolongation of the patient's life.
So, in the treatment they use:
- Antiviral drugs.
- Broad antibiotics.
- Antifungal agents.
- Glucocorticosteroids.
Since infectious diseases are difficult to treat, the patient is shown the use of a complex of vitamins in a large dosage to stimulate his own immune reserves.
Forecast
Due to the lack of effective treatment, the maximum life span of patients diagnosed with Louis Bart's syndrome does not exceed 20 years. However, even to this age, only a few survive. Malignant neoplasms, serious infectious diseases kill patients much earlier.
So, until doctors have learned to treat such rare and dangerous diseases, everyone has a risk of getting sick. Well, young mothers are responsible for their unborn children, and leading an unhealthy lifestyle during pregnancy is a crime. Take care of yourself and your little ones.
