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Louis Bar syndrome


Ataxy teleangiectasia (Louis Bar syndrome) — a hereditary disease with a cerebellar ataxy, teleangiectasias, disturbance of immunity and tendency to malignant new growths; fragility of chromosomes is increased; cells of patients are sensitive to action of the ionizing radiation. Frequency. 1:300 000 newborns.

Symptoms of the Syndrome of Louis Bar:

Defeat of TsNS:
- The cerebellar ataxy appears from first years of life (after the patient starts walking) and progresses with age;
- Extrapyramidal symptoms — a hypokinesia, a choreoathetosis (can appear at more advanced age);
- The back and cerebellar ataxy with disturbance of deep and vibration sensitivity appears at the age of 12–15 years;
- Oculomotor apraxia (disturbance of functions of third cranial nerves).

Immunity disturbances:
- Thymus gland hypoplasia;
- Decrease in serumal maintenance of IgG2 or IgA. Concentration of IgE and IgM can be normal. Early the lymphopenia and decrease in cellular immunity in tests for intradermal introduction of Ag develop.

Defeat of vessels. Teleangiectasias — formations of a venous origin, develop later, than an ataxy (at the age of 3–6 years), at first on a conjunctiva (vascular "spiders"), then on face skin, auricles, elbow bends, popliteal spaces, in places of friction of skin.

Defeat of other systems:
- Early canities of hair
- Atrophic changes of face skin
- Nevus pigmentosus
- Seborrheal dermatitis
- Insignificant lag in growth
- Delay of intellectual development
- Frequent pneumonia, sinusitis
- New growths of various localization (leukemia, lymphoma, gliomas, medullosarkoma)
- The hypogenitalism is characteristic of women; the hypogonadism at men is less expressed
- Decrease in tolerance to glucose.

Reasons of the Syndrome of Louis Bar:

The disease is connected with genetic disorders, defective enzyme at an ataxy teleangiectasia — DNA-topoisomerase.

Treatment of the Syndrome of Louis Bar:

Effective treatment does not exist: symptomatic therapy, vitamin and physical therapy.

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