Ataxia-telangiectasia
It is a degenerative brain disorder that occurs predominantly in children. The disease is characterized by cellular and humoral immunodeficiency, progressive cerebellar degeneration, telangiectasia bulbar conjunctivitis and increased risk of malignancy.
Telangiectasia is installed shortly after the loss of muscle control and this is manifested by small veins, broken, which can be seen with the naked eye, at the conjunctival surface and ears or cheeks. This condition is accompanied by a particular form of diabetes. By this neurological disorder can be confused with Friedreich's disease.
Cerebellar function deficits in children and spider veins occur in the first 10 years of life. Clinically, it can meet the trunk and limb ataxia, dysarthria, myoclonus sudden, bone-tendon reflexes abolished, and sensory deficits, especially distal limb.
As events accompanying a higher incidence of lung infections and lymphatic system and reticuloendothelial malignancies. They also reported thymic involution (which usually involute after puberty), which has the effect of cellular and humoral immune deficiency, with decreased concentrations of immunoglobulins in Class A and G.
Other accompanying events that were reported are: - Premature aging and - Endocrine abnormalities such as diabetes mellitus type 1 (insulin-dependent) - Hodgkin's lymphoma and acute T-cell leukemia - There is an increased incidence of cancer, especially breast cancer in women heterozygous for this disease. Increased susceptibility to cancer explained by the fact that cellular abnormalities were found in patients with ataxia-telangiectasia.
Pathology Purkinje cell loss was found in granular cerebellar gray matter, and loss of neurons in deep cerebellar nuclei, the inferior bulbar olivele and the horn of the spinal previously. There is a degeneration of spinal posterior roots and posterior columns of spinal cord demyelination.
This disease is caused by a defect on chromosome 11q22-Q23. Treatment is symptomatic.
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