What is Louis Bar syndrome? Pathogenesis and symptoms of Louis Bar syndrome. Characteristic manifestations of Louis Bar syndrome.

(ataxia-telangiectasia) is a hereditary disease manifested by cerebellar ataxia, telangiectasia of the skin and conjunctiva of the eyes, and insufficiency of the T-cell component 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 based on the history and clinical picture of the disease, immunogram data, the results of an ophthalmological and otolaryngological examination, MRI of the brain and radiography of the lungs. Currently, Louis-Bar syndrome has no specific and effective treatment.

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 in 40 thousand newborns. However, it must be taken into account that in case of death in early childhood, Louis-Bar syndrome usually remains undiagnosed. It is known that the disease equally often affects boys and girls. 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 receiving a recessive gene from both parents.

Morphologically, ataxia-telangiectasia is characterized by degenerative changes in cerebellar tissue, in particular the loss of granule cells and Purkinje cells. Degenerative changes can affect the dentate nucleus of the cerebellum (nucleus dentatus), the substantia nigra and some parts of the cerebral cortex, and 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 appearance of frequent infectious diseases in patients, which are prone to long-term and complicated courses. In addition, immune disorders can potentiate the development of malignant neoplasms, often originating in the structures of the lymphoreticular system.

Clinical manifestations of Louis-Bar syndrome

Ataxia. Most often, Louis-Bar syndrome begins to manifest itself clinically between the ages of 5 months and 3 years. In all cases of the disease, Louis-Bar syndrome manifests itself with the appearance of cerebellar ataxia, the signs of which become obvious when the child begins to walk. There are disturbances in balance and gait, trembling during motor acts (intention tremor), swaying of the torso and head. Often the ataxia is so severe that a patient with Louis-Bar syndrome cannot walk. Cerebellar ataxia is combined with cerebellar dysarthria, characterized by slurred scanned speech. Muscle hypotonia, decreased or complete disappearance of tendon reflexes, nystagmus, oculomotor disturbances and strabismus are noted.

Telangiectasia. In most cases, the appearance of telangiectasia accompanying Louis-Bar syndrome occurs between the ages of 3 and 6 years. In some cases, their occurrence is noted in a later period and very rarely during the first month of life. Telangiectasia (spider veins) are reddish or pink spots or branches of various shapes. They are caused by the expansion of small blood vessels in the skin. It should be noted that telangiectasia can be a manifestation of many other diseases (for example, rosacea, SLE, dermatomyositis, xeroderma pigmentosum, 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 appearance of telangiectasia on the conjunctiva of the eyeball, where they have the appearance of “spiders”. Then spider veins appear on the skin of the eyelids, nose, face and neck, elbows and knees, forearms, dorsum of the feet and hands. Telangiectasia can also be observed on the mucous membrane of the soft and hard palate. Spider veins are most pronounced in those areas of the skin where it is exposed to sunlight. First of all, this is the face, where telangiectasias form entire “bundles”. At the same time, the skin loses its elasticity and becomes dense, which resembles the changes typical of scleroderma.

Skin manifestations of ataxia-telangiectasia may include the appearance of freckles and café-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 clinical picture of poikiloderma. Many patients experience dry skin and areas of hyperkeratosis. Hypertrichosis, early graying of hair, skin elements resembling acne or manifestations of psoriasis may be observed.

Respiratory tract infections. Characterizing Louis-Bar syndrome, damage to the immune system leads to frequent recurrent infections of the respiratory tract and ear: chronic rhinitis, pharyngitis, bronchitis, pneumonia, otitis, sinusitis. Their features are: blurred boundaries between the periods of exacerbation and remission, paucity of physical data, poor sensitivity to antibacterial therapy and a long course. Each such infection can become deadly 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 tumor processes are observed 1000 times more often than the average population. The most common of 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.

Diagnosis of Louis-Bar syndrome

Laboratory diagnosis of Louis-Bar syndrome includes a clinical blood test, in which 1/3 of patients have a decrease in the number of lymphocytes. A study of the level of blood immunoglobulins is required, which reveals a significant decrease in IgA and IgE, in 10-12% of cases IgG. In approximately 40% of patients, Louis-Bar syndrome is accompanied by autoimmune reactions, as evidenced by the presence of autoantibodies to mitochondria, thyroglobulin, and immunoglobulins.

Among the instrumental methods for diagnosing Louis-Bar syndrome, the following can be used: ultrasound of the thymus, MRI of the brain, pharyngoscopy, rhinoscopy, radiography of the lungs. Using ultrasound, aplasia or hypoplasia of the thymus is diagnosed. MRI of the brain reveals cerebellar atrophy and dilatation of the fourth ventricle. X-ray of the lungs is necessary for diagnosing focal or lobar pneumonia, identifying foci of pneumosclerosis and bronchiectasis.

Louis-Bar syndrome should be differentiated from Friedreich's ataxia, Randu-Osler disease, Pierre-Marie ataxia, Hippel-Lindau disease, etc.

Treatment and prognosis of Louis-Bar syndrome

Unfortunately, effective methods for treating Louis-Bar syndrome still remain the subject of a search. In modern medicine, it is possible to use only palliative symptomatic treatment of somatic and immunological disorders. Extending the life of patients with Louis-Bar syndrome is facilitated by immunocorrective therapy with thymus preparations and gamma globulin, vitamin therapy in high dosages and intensive therapy of any infectious process. According to indications, antiviral drugs, broad-spectrum antibiotics, antifungals, and 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 past 20 years. In most cases, they die from infectious complications and cancer.

And we also have

Synonyms of Louis-Bar syndrome. S. Boder-Sedgwick. Cephalo-oculocutaneous telangiectasia. Cerebelloculocutaneous telangiectasia. Telangiectatic ataxia. Cerebellar atrophy with oculocutaneous telangiectasias and bronchiectasis. Telangiectasia and ataxia syndrome.

Definition of Louis-Bar syndrome. Rare phakomatosis in children. Refers to neurocutaneous syndromes.

Symptomatology of Louis-Bar syndrome:
1. Cerebellar ataxia, abasia and astasia, which first appear in early childhood and slowly progress; By the time of puberty, free gait and standing are usually impossible. At the same time, speech disorders develop (monotonous scanned speech or regular dysarthria), which are also progressive in nature.
2. Absence of pyramidal signs, reflexes are normal or weakened. Muscle tone (after the initial rigidity-like increase) is usually reduced. Normal sensitivity. No paresis.
3. Slowly developing symmetrical telangiectasias of the skin and mucous membranes, especially the skin of the face and conjunctiva (an early symptom that can manifest as rapidly passing conjunctivitis!). Frequent development of café-au-lait plaques, facial skin atrophy, premature graying of hair (at school age).
4. Recurrent pulmonary infections, sometimes with development.
5. Hypersalivation.
6. Small stature and general dystrophy.
7. At the onset of the disease, intellectual development is normal; later, mental development is delayed.
8. Pneumoencephalographic data: signs of cerebellar atrophy.
9. Ataxia - telangiectasia is very often combined with thymic hypoplasia, specific dysgammaglobulinemia (gamma Au, globulin deficiency) and a tendency to malignant processes in the reticuloendothelial system (lymphosarcoma, reticulosis, etc.).
10. The prognosis is poor. Most of the patients observed so far died during puberty.

Etiology and pathogenesis of Louis-Bar syndrome. A recessive hereditary disorder with genetically determined inhibition of cerebral vascularization. In one case, a translocation was established between two acrocentric chromosomes of group 13-14-15 (Bijl, Jansen, Ossentjuk, 1963). The significance of the excess urinary excretion of polypeptides found in some cases is still unclear.

Pathological anatomy. Primary chronic progressive cerebellar degeneration with pathological changes in Purkin cells and wrinkling of the white matter, as well as changes in veins (dilation, congestion, thinning of the walls), especially in the area of the pia mater of the cerebellum, as well as the cerebral hemispheres.

Differential diagnosis. In the initial stages: cerebellar form of cerebral palsy syndrome. S. Friedreich I (see). Cerebellar tumors. S. Sturge-Weber (see). S.v. Hippel-Lindau (see). S. Werner (see). S. Osier I (see).

General information

Causes and pathogenesis of Louis-Bar syndrome

Clinical manifestations of Louis-Bar syndrome

Ataxia. Most often, Louis-Bar syndrome begins to manifest itself clinically between the ages of 5 months and 3 years. In all cases of the disease, Louis-Bar syndrome manifests itself with the appearance of cerebellar ataxia, the signs of which become obvious when the child begins to walk. There are disturbances in balance and gait, trembling during motor acts (intention tremor), swaying of the torso and head. Often the ataxia is so severe that a patient with Louis-Bar syndrome cannot walk. Cerebellar ataxia is combined with cerebellar dysarthria, characterized by slurred scanned speech. There is muscle hypotonia, decreased or complete disappearance of tendon reflexes, nystagmus, oculomotor disturbances and strabismus.

Malignant neoplasms. Among patients with Louis-Bar syndrome, malignant tumor processes are observed 1000 times more often than the average 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.

Diagnosis of Louis-Bar syndrome

Making a 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. Using ultrasound, aplasia or hypoplasia of the thymus is diagnosed. MRI of the brain reveals cerebellar atrophy and dilatation of the fourth ventricle. X-ray of the lungs is necessary for diagnosing focal or lobar pneumonia, identifying foci of pneumosclerosis and bronchiectasis.

Louis-Bar syndrome should be differentiated from Friedreich's ataxia, Randu-Osler disease, Pierre-Marie ataxia, Hippel-Lindau disease, etc.

Treatment and prognosis of Louis-Bar syndrome

Louis-Bar syndrome (ataxia-telangiectasia).

Louis-Bar syndrome (ataxia telangiectatic) is a rare immunodeficiency disease related to neuroectodermal dysplasia. The disease affects the brain and other parts of the body, leading to uncoordinated movements, enlarged capillary vessels, and retardation in mental and physical development. Patients live on average about 40 years.

Louis-Bar syndrome is passed down from generation to generation and is a genetic hereditary disease. Inheritance occurs according to an autosomal recessive trait (both parents have defective genes).
The syndrome occurs due to a mutation (ATM) of the gene. The defective gene activates autoimmune processes that lead to cell death in various parts of the body, including the brain, the region responsible for coordinating movements.
Both boys and girls get sick.
- impaired coordination of movements usually begins after 3-4 years (ataxic gait, instability);
- slowdown or complete cessation of mental development after 10 years of age;
- discoloration of skin areas exposed to ultraviolet rays;
- white spots on the skin resembling vitiligo;
- dilated blood vessels in the skin of the nose, ears, inside the elbows and knees;
- dilated blood vessels in the whites of the eyes;
- premature graying of hair
- increased sensitivity to x-rays;
- severe respiratory infections prone to relapse.
Diagnosis is made based on examination of the patient, study of the medical history and special testing.
Through examination, the doctor clarifies the following signs of the disease:
- the size of the tonsils, lymph nodes and spleen is less than normal;
- reduction or complete absence of tendon reflexes;
- delayed physical and sexual development;
- growth retardation;
- skin pigmentation disorders.
Diagnostic testing includes:
- identification of alpha-fetoproteins;
- detection of carcinoembryonic antigen;
- identification of genetic mutations;
- testing for glucose tolerance;
- measurement of serum immunoglobulin levels (IgE, IgA);
- X-ray examination of the thymus gland.
There is currently no specific treatment for the disease. All therapy comes down to alleviating the symptoms of the syndrome and preventing infectious diseases.
Death at 8-15 years of age is common, but under good living conditions, patients can live up to 30-40 years.
Possible complications of the syndrome
- development of cancer (lymphoma);
- development of diabetes mellitus;
- development of kyphosis;
- progressive coordination disorders leading to complete disability;
- development of scoliosis;
- severe, recurrent lung infections. www.blackpantera.ru

A hypothesis has been put forward about the possible similarity of certain pathological mechanisms of disruption of the thymus-dependent link in ataxia telangiectasia syndrome (Louis-Bar syndrome) and in the aging process.
Louis-Bar syndrome is a rare (approximately one case per 400,000 newborns) hereditary disease with multisystem disorders: cerebral ataxia, mucocutaneous (conjunctival) telangiectasia (dilation of small vessels in the form of star-shaped formations), recurrent diseases of the respiratory tract (sinusitis, bronchitis, pneumonia ), high incidence of malignant tumors (about 10% of all patients develop malignant tumors), reduction in the size of the thymus gland and immunological deficiency, as well as metabolic disorders.
The disease usually appears in children after one year of age. Patients usually live up to 14-16 years of age and very rarely to an older age.
Infectious diseases and malignant tumors the main cause of death in children with Louis-Bar syndrome. Analyzing the immunological status of children with Louis-Bar syndrome using more than 30 indicators, we drew attention to the surprising similarity of a number of disorders in the immune system, and primarily in the thymus-dependent link, with this pathology and in elderly people. Their number of circulating lymphocytes and T-lymphocytes decreases absolutely, but not relatively.
Their proliferative response to stimulation with phytohemagglutinin, as well as specific antigens to which they were previously sensitized, is inhibited. The ability of T-lymphocytes to produce factors with mediator properties, the activity of T-lymphocytes in reactions of cell-mediated immunity, as well as immunoregulatory T-lymphocytes are impaired. The ratio of cells with the function of helpers and suppressors changes towards an increase in cells with suppressor properties.
The ability to respond to repeated entry into the body of a microbial stimulus, etc., decreases. Some similarities are known in changes in immunocompetent cells at the molecular level. In particular, the transmission of stimulus from surface receptors to the cell nucleus, which is necessary for the activation of lymphocytes, is disrupted. In both groups, the central organ of the immune system, the thymus, decreases significantly in size.
At the same time, we did not find any similarities in changes in the immunoglobulin system in children with Louis-Bar syndrome and in elderly people. Many clinical manifestations are similar in old people and children with Louis-Bar syndrome. It is enough to name such characteristic pathological processes as malignant neoplasms, infectious and inflammatory processes with a predominant lesion of the pulmonary system, some autoimmune processes, as well as skin lesions, endocrinopathies, mental disorders, etc.
It is possible that a decrease in the effector and regulatory functions of T-lymphocytes as a result of disruption of the hormonal activity of the thymus is one of the most important pathogenetic mechanisms common to old age and ataxia telangiectasia (i.e., Louis-Bar syndrome).

Immunity and aging, I.S. Gushchin

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Marchesani syndrome.

The syndrome, described in 1939 by Marchesani, is a constant combination of certain ocular anomalies (sphero- and microphakia) and dysmorphia (nanism; brachymorphia; brachycephaly, etc.).

Many synonyms reflect the same clinical picture of this Marchesani syndrome: “congenital hyperplastic mesodermal dysplasia”, “brachymorphia and spherophakia”, “hyperplastic mesodermal dystrophy”, “congenital mesodermal dysmorphodystrophy” and “congenital ectopia with brachymorphia”.

Etiopathogenesis of Marchesani syndrome.

Etiology and pathogenesis are unknown. Apparently, the syndrome is an anomaly of the mesoderm, which, under the influence of unknown factors, can develop in a hyperplastic direction, reaching the appearance of Marchesani syndrome, or, in a hypoplastic direction, causes the appearance of Marfan syndrome (to which Marchesani syndrome is similar in its ocular and dysmorphic anomalies).

Marchesani syndrome is familial and appears more often in consanguineous families. It is transmitted hereditarily in a dominant manner, with increased penetration in relation to brachydactyly and lens movement, or recessive in relation to microspherophakia.

The presence of cases with erased signs, in which the patient has only one symptom of microspherophakia or only brachydactyly, suggests that mild brachydactyly represents a heterozygous form, while spherophakia, accompanied or not by bone abnormalities, is a homozygous recessive form.

The syndrome is very rare and the number of cases diagnosed and published is small.

Symptomatology of Marchesani syndrome

Ocular manifestations:

Microspherophakia (lens is small and very convex). The pathological shape of the lens always leads to early evolutionary myopia. Often this anomaly causes constant headaches; lens luxation; bilateral glaucoma. Ocular hypertension, always secondary to movement of the lens, thus causes an enlargement of the eyeball (secondary hydrophthalmia), cataracts; strabismus.

Dysmorphic manifestations:

Nanism manifests itself with age; the child takes on a “stocky” appearance. The limbs are short, the subcutaneous fat layer and muscles are well developed, and the chest is wide;

brachydactyly: palms and feet are short and wide, fingers are short.

rachycephaly: wide skull, wide and convex forehead.

Inconsistently combined manifestations:

delayed psychomotor development;

cardiovascular abnormalities;

stenosis of valves or blood vessels;

the pathological appearance of papillary ridges is uncharacteristic.

Course and prognosis of Marchesani syndrome- very heavy. Among eye abnormalities, glaucoma is the most dreaded complication. It worsens the prognosis because, due to its bilateral location, it cannot be operated on.

Treatment of Marchesani syndrome.

There is no etiopathogenetic treatment. As a symptomatic treatment to combat ocular hypertension, it is recommended:

Instillation into the eyes of a 1-2% solution of pilocarpine, 3-4 times a day (pilocarpine lowers intraocular pressure, promoting the release of chamber fluid into the Helmet canal). This treatment should be continued for life. An attempt at surgical treatment, consisting of capsulotomy, is useless, since the intraocular increased pressure is bilateral.

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Moebius syndrome (congenital oculofacial palsy syndrome, facial diplegia syndrome).

In 1919, the German pediatrician Gertrud Hurler, at the suggestion of her boss, the largest German pediatrician Meinhard von Pfaundler, described several patients with one type of “multiple abarths,” mainly in the skeletal system; this type of dysostosis was later called “Pfaundler-Hurler syndrome.”

Sometimes, mainly X-ray syndrome called myochondrodystrophy due to the finding of infiltration of lipoids into the cartilage of the skeletal system, central nervous system, liver and other organs. But then it turned out that these deposits were not of lipoid origin.

There is evidence that before the publication of Gertrude Gurler the same disease was described by Gunther in 1917. The concept of “multiple abarts”, introduced into medical practice by Pfaundler, is a group designation for a number of symptom complexes, coordinated multiple developmental anomalies that are consequences of syntrony (syntropy is more than a random coincidence of painful phenomena in humans). Deformities are detected in a variety of systems.

Gisella Tim considers it possible to distinguish among “multiple abarths” a type with predominant damage to organs of ectodermal and mesodermal origin. There is a type associated with metabolic disorders.

I. I. Merkulov pointed out in 1971 that until 1954, about 200 cases of Pfaundler-Hurler syndrome.

In the first months of life Noteworthy are the large skull, rough facial features, sunken bridge of the nose, stiff joints, and thoracolumbar kyphosis.

After the first year of life, and sometimes macro- and scaphocephaly are noticed only at the age of 3-4 years; characteristic facial expression (“the face of someone spitting water”); sparsely spaced, irregularly shaped carious teeth; short neck, as if the head is set on the body; flattened saddle nose with open nostrils; widely spaced eyes with narrow slits; thick eyebrows merging at the bridge of the nose; long eyelashes. The lips are thick, the tongue is large, the palate is high, the upper jaw is thickened and the lower jaw is reduced in size. The body is short, the chest is deformed, the limbs are short. The hands are like paws, curved inward; mobility in the joints is difficult. Growth is dwarf (Fig. 6).

The abdomen is enlarged, there is hepato- and splenomegaly, inguinal and umbilical hernias, dry and rough skin, watch-glass-shaped nails. Hearing loss develops. Heart with congenital defects, lungs with limited mobility. Mental retardation, lethargy. X-rays reveal premature ossification of the lambdoid suture, enlarged sella turcica, pathological shape of the vertebrae (“fish vertebrae”), curvature of the radius, deformation of the meta- and epiphyses of long tubular bones, short metacarpal bones and phalanges. In the urine there is an increased content of mucopolysaccharides - a mixture of chondroitin sulfate B and heparitin sulfate.

These substances were determined in various tissues, including the conjunctiva and cornea.

The syndrome is regarded as thesaurismosis. Thesaurismosis is a metabolic disorder in which individual metabolic products accumulate in large quantities in the body and are deposited in cells and organs.

They propose to distinguish 5 types of mucopolysaccharidoses.

Girls are more often affected by this syndrome. The type of inheritance is autosomal recessive.

On the part of the organ of vision, with the syndrome, clouding of the corneal stroma and Bowman's membrane in the form of gray dots, in places merging into stripes and network-like formations, and sometimes massive opacities without newly formed vessels, is especially common. The sensitivity of the cornea is preserved (Fig. 6b). Vision can drop to counting fingers near the face.

Hypertelorism, ptosis, epicanthus, exophthalmos, internal strabismus, macrocornea up to 14 mm in diameter with normal or increased intraocular pressure are observed. There may be iris coloboma, cataracts, optic nerve atrophy and retinal pigmentary dystrophy.

During pathological examination detect a decrease in the volume of the white matter of the brain, internal hydrocephalus, caused by the deposition of mucopolysaccharides in the meninges and a violation of their permeability. Mucopolysaccharide deposits are also detected in the heart valves, retina, sclera, cornea, kidneys, spleen, and nerve ganglia.

Differentiate with other types of mucopolysaccharidoses.

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Congenital anomaly related to Crouzon syndrome. This syndrome was described in detail by the French pediatrician Eugene Apert in 1906. This is a symptom complex of hereditary anomalies, characterized by a combination of deformations of the facial part of the skull, syndactyly and other defects of the skeletal system.

Causes of the syndrome There may be damage and abnormal development of the first branchial arch of the embryo as a result of the mother's illness during pregnancy with infectious diseases (influenza, rubella, syphilis, meningitis, tuberculosis) and maternal exposure to X-rays. The syndrome is more often observed in children of elderly parents.

From the eyes wound-like pathology is observed: small flat orbits due to thickening of the bones; exophthalmos caused by a decrease in the volume of the orbit; antimongoloid appearance of palpebral fissures, ptosis, hypertelorism, divergent strabismus, nystagmus, keratoconus, lens subluxation, cataracts, pigmentary degeneration of the retina, congestive discs with subsequent atrophy of the optic nerve.

For acrocephalosyndactyly a tower-type skull deformation is observed due to early closure of the longitudinal and transverse sutures of the skull, sometimes there is synostosis of all sutures of the skull and, in connection with this, changes in the face, an enlarged root of the nose, a high palate, a “cleft palate,” hypoplasia of the upper jaw, and a protruding lower jaw. There is syndactyly (fusion of the fingers and toes), the thumbs always remain free. Fusion can be skin, bone, membranous. Polydactyly occurs less frequently. Sometimes there are malformations of the vertebrae, dwarf stature, heart defects, dysplasia of the kidneys and pancreas, adiposogenital dysplasia, malformations of the external ear, and fusion of the anus. Mental retardation is observed.

Simultaneous anomalies brain and facial skull, eyes, distal parts of the limbs are explained by the fact that all these organs develop from the rudiments of the same area.

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Inheritance type- autosomal dominant, the prognosis is unfavorable, as there are many different morphological defects.

Differentiate with Crouzon, Greig, Carpenter syndromes.

Treatment is symptomatic. The prognosis for life is unfavorable.

Article from the book: Syndromes with simultaneous damage to the organ of vision, oral cavity and dentofacial system | Yartseva N.S., Barer G.M., Gadzhieva N.S.

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Louis-Bar syndrome (congenital ataxia-telangi-ectasia - 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, incorrect interaction of 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. Population frequency is unknown. Sex ratio: m:f - 1:1.

Immunodeficiency and chromosomal instability are markers of A-T (Ataxia - Teteangiectasia Mutated), which encodes the synthesis of the kinase of the same name. Cells of patients with A-T are characterized by increased sensitivity to radiation, defects in the cell cycle, but 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, DNA double-strand 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 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. In A-T, control of the cell cycle is disrupted at critical points. Double-strand DNA breaks occur during 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 it is with defects in DNA repair in these cases that many clinical and immunological manifestations in patients with A-T are associated, such as disturbances in the synthesis of immunoglobulins, the function of the genital organs and the nervous system.

Clinical manifestations of A-T may vary significantly in different patients. Progressive cerebellar ataxia and telengiectasia are present in everyone, and café au lait spots on the skin are common. The tendency to 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 A-T are disorders of cellular immunity in the form of a decrease in the number of T lymphocytes, inversion of the CD4+/CD8+ ratio (mainly due to a decrease in CD4+ cells) and a decrease in the functional activity of T cells. In terms of serum immunoglobulin concentrations, the most characteristic change is a decrease or absence of IgA; less often, immunoglobulin concentrations close to normal are detected, or disimmunoglobulinemia in the form of a sharp decrease in IgA, IgG, IgE and a significant increase in IgM. A characteristic disorder is the formation of antibodies in response to polysaccharide and protein antigens. Treatment methods for A-T have not been developed to date. Patients need palliative therapy for neurological and somatic disorders. In case of detection of serious immunological changes and/or chronic or recurrent bacterial infections, antibacterial therapy is indicated (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%). Rocking of the head and body, gait disturbance, intention tremor and choreoathetosis are noted (90-100%). 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 sign 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 in 10-30% the lymphoreticular system is affected.

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

Neurological symptoms come first in the clinical picture, so the disease was initially described as cerebellar ataxia. Between the ages of 2 and 8 years, telangiectasias occur, which are usually located on the bulbar conjunctiva, between the angle of the eye and the limbus, and look like red convoluted vessels. Aplasia of the thymus gland, hypoplasia (underdevelopment) of the lymph nodes, spleen, group lymphatic follicles of the small intestine, and tonsils are observed. Children with Louis-Bar syndrome constantly experience hypoplasia (underdevelopment) or aplasia (complete absence) of the palatine tonsils. The lacunae of the tonsils are underdeveloped. Cervical lymph nodes are small and do not enlarge during infections. Almost all children with Louis-Bar syndrome develop chronic purulent sinusitis and often develop otitis media.

The diagnosis is made based on the clinical picture, as well as laboratory data. All patients with Louis-Bar syndrome almost completely lack T-suppressors. In some patients, cells cannot synthesize IgA, which is due to the absence of T helper cells. A- and b-proteins are 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.

Under our supervision was a girl K., she was admitted to the clinic at the age of 13 years and 10 months due to a congenital immunodeficiency condition 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 a mother complains of icteric discoloration of the skin, repeated vomiting, anorexia, general weakness, and 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 until she was a year old. From the second year of life, frequent colds were noted, emaciation began to progress, and she suffered from repeated pneumonia. Cerebellar ataxia was diagnosed at the age of 4 years. The girl was consulted at our clinic, and Louis-Bar syndrome was diagnosed in the Moscow clinic. Since then, the symptoms of degeneration and ataxia have progressed, and she has suffered repeated pneumonia. Chronic bronchiectasis was diagnosed. She was treated in hospital several times. For the last 2 years of her life, the girl has not walked; changes in the liver and kidneys associated with amyloidosis have occurred. 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 medications that improve the metabolic processes of the liver and kidneys. 2 weeks before admission, the patient’s condition sharply worsened, jaundice increased, complete anorexia was observed, and repeated vomiting appeared. Sent to the clinic.

Upon admission, the general condition was serious. The girl is severely dystrophic. The skin and sclera are icteric, multiple “star-shaped” rash. The eyeballs have a pronounced vascular pattern. She is inhibited and 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 lymph nodes are palpable. Pulse - 100. RR - 40. Blood pressure - 100/60 mm Hg. Above the lungs there is a pulmonary sound percussion, shortened in the lower parts, auscultation of breathing is hard, weakened in the lower parts, 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 and rhythmic. The abdomen is enlarged in volume, soft on palpation, and there is no ascites. The liver is dense, palpated 4 cm below the costal arch, the spleen is dense, palpated 5 cm below the costal arch at the entrance to the pelvis. Urinates freely. The chair is decorated and straightens on its own.

Laboratory examinations

Blood test: Er. - 2.9 T/l, Hb - 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/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%.

Urinalysis: protein - 0.86 g/l, Lake. — 10-15, up to 25 in field view, Er. — 10 in the field of view, hyaline cylinders — 1-2, granular — 1-2 in the field of view.

On a chest x-ray: the lung tissue is moderately distended, especially in the lower lobes. The pulmonary pattern is strengthened, expanded, on the right in the middle lobe there is 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 anamnesis, objective data, clinical examination and observation, the above diagnosis was made.

Received therapy: intravenous drip of Ringer's solution, hemodez, plasma, corglucon, lasix, ampicillin intramuscularly, daily gamma globulin, sirepar, lipoic acid, methionine, prednisolone, oxygen therapy, diet No. 7.

Despite the therapy, the girl’s condition progressively worsened, the symptoms of liver and kidney failure increased, and daily diuresis decreased, in recent days up to 300 g per day. The number of wheezes in the lungs increased, and 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 stool, tar-like stools, and a liver smell appeared. The resuscitation measures carried out had no effect. Due to hepatic failure accompanied by respiratory and heart failure, the girl died on the 20th day of her stay in the clinic.

Pathological diagnosis

Basic: congenital immunodeficiency condition 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.

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