Louis-Bar syndrome
Louis-Bar syndrome is a rare immunodeficient neurodegenerative genetic disease that manifests itself in the form of cerebellar ataxia, causing severe forms of paralysis. The second name of the disease is ataxia telangiectasia. Ataxia is characterized by impaired coordination of movements, and telangiectasia is characterized by dilation of blood vessels. Both of these signs are distinctive features of Louis-Bar syndrome.
The content of the article:
Causes and pathogenesis of Louis-Bar syndrome
Clinical manifestations of Louis-Bar syndrome
Diagnosis of Louis-Bar syndrome
Treatment of Louis-Bar syndrome
Prognosis of Louis Bar syndrome.
Louis-Bar syndrome
The disease is inherited by an autosomal recessive type, while the threat of morbidity of a child born to a couple with one sick parent is 50% out of 100. According to statistics, the prevalence of the disease falls on one person out of forty thousand.
The essence of the disease is the innate abnormal immune state of the human body. The T-link in the genetic chain is affected. Further, 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 in a fatal outcome, and without the ability to diagnose this disease in time and correctly.
Causes and pathogenesis of Louis-Bar syndrome
This genetic disease in various classifications is considered as cerebrospinal degeneration or as phacomatosis (this term was proposed as a designation of diseases with combined damage to 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 even during fetal development.
The disease affects both men and women with the same frequency, has a rapid progression, affects, first of all, the nervous system and the skin. The disease can completely change or destroy the tissues of the cerebellum, affecting even its nucleus.
Louis-Bar syndrome is an immunodeficiency condition that is based on thymus hypoplasia and IgA and IgE deficiency. That is, there is a violation in the functions of the cellular and humoral links of immunity. This provokes frequent recurrent infectious diseases of the respiratory system, digestive tract and skin. The characteristic hypoplasia of the thymus gland is complemented by hypo/atrophy of the lymph nodes and the lymphatic apparatus as a whole, as well as the spleen and digestive 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 at the age of three months to 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. Telangiectasia manifests itself primarily on the eyeballs in the form of bulbar conjunctiva, then spreads to the eyelids and face.
Characteristic symptoms of Louis-Bar syndrome:
Movement coordination disorders (usually after three years) — instability, ataxic gait, involuntary movements;
Mental disorders and slowing down or complete stop in development (after ten years);
Skin discoloration under the influence of ultraviolet rays;
Formation of former spots on the body;
Dilation of blood vessels in the area of the inner side of the knees and elbows, on the face, in the whites of the eyes;
Early gray hair;
Hypersensitivity to X-rays;
Severe infections of the respiratory tract, ears, prone to relapse (in 80% of patients);
Lack of reflexes in the eye muscles;
Abnormal development of the thymus gland, and in some cases its complete absence;
Lymphocytopenia (approximately 1/3 of all cases);
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 cases. It cannot be said that skin manifestations are specific for ataxia-telangiectasia, but this is the first visible sign of the 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
The 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. It is often possible to manifest and diagnose Louis-Bar syndrome only after long-term treatment of infectious diseases, which does not give results.
To establish the correct diagnosis, the patient undergoes consultations with several medical specialists: an immunologist, a dermatologist, an ophthalmologist, an oncologist, an otolaryngologist. Analyzing all the procedures, tests, consultations, the final conclusion is made by a neurologist. The neurologist also prescribes laboratory tests, additional procedures and tests to establish an accurate and correct diagnosis.
During the examination, the doctor focuses on:
delayed sexual development;
pigmentation of the skin;
violation or absence of tendon reflexes;
growth disorder;
reduced size of tonsils, lymph nodes.
Laboratory tests are prescribed:
Clinical blood test to determine the level of α-fetoprotein protein (in Louis-Bar syndrome, its level is elevated).
A blood test for a decrease in the level of leukocytes.
A blood test to determine the concentration of antibodies in the blood (in case of disease, the number of antibodies decreases).
The study of the level of immunoglobulin in the blood (with the syndrome, the level of immunoglobulin A and E is significantly reduced).
Identification of genetic mutations.
Glucose tolerance test.
Ultrasound of the thymus gland.
MRI of the brain and brain structures (with the disease, an increase in the fourth ventricle and pathological changes in the cerebellum are detected — degeneration of cerebellar cells).
Chest X-ray to exclude pneumonia, detect changes in the size of the bronchi.
Analysis of pigment spots (presence of hyperkeratosis, deposition of melanin in the epidermis, inflammatory reaction in the dermis).
Pathoanatomic examination of the lymphatic system (revealed hypoplasia of the thymus, atrophy of the lymphatic apparatus of the gastrointestinal tract).
To make a correct diagnosis, Louis-Bar syndrome should be differentiated in a number of other diseases with similar symptoms:
Friedreich’s ataxia.
Pierre Marie’s illness.
Randu-Osler disease.
Hippel-Lindau syndrome.
Sturge-Weber-Crabbe syndrome et al.
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 the patient’s life, special immunotherapy is prescribed with different dosages of T-activin and gammaglobulin. In the complex, it is also mandatory to take vitamins to maintain the correct functionality of the body.
The patient is prescribed a course of antibiotic therapy to combat a secondary bacterial infection. The patient must undergo physiotherapy.
If malignant neoplasms are detected, chemotherapy, radiation therapy or surgical intervention is prescribed. In the presence of diabetes mellitus, insulin and antidiabetic drugs are prescribed.
Prognosis of Louis Bar syndrome.
Since the disease has a genetic nature and partially or completely destroys immunity at the cellular level, has a pathological character and is not treatable, then normal full-fledged vital activity is practically impossible.
The prognosis of this genetic disease is unfavorable. Most patients die within 5-8 years after the first symptoms appear from infectious diseases of the respiratory system (often pneumonia) or from malignant formations in the body. Patients live mainly 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.
There is no prevention or prevention of the disease due to the impossibility of influencing the genetic development of the embryo in the womb.
