گزارش دو مورد آتاکسی تلانژکتازی در یک خانواده
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Abstract:
The ataxia - telangiectasia or Louis - Bar syndrome is a rare hereditary disease. The inheritance pattern is autosomal recessive, locus gene has been mapped to the long arm of chromosome 11. The onset of the disease coincides more or less with the acquisition of walking, which is awkward and unsteady. The characteristic telangiectatic lesions, are mainly subpapillary vascular plexuses of the bulbar conjunctivae and over the ears. In these cases ataxia at 1.5 and 2 years old appeared , but telangiectatic lesions appeared at 4 years. There are high circulating levels of alpha - fetoprotein this is thought to be due to immaturity of the liver, and serum concentration of IgA and IgG are reduced. In these cases (one brother and sister), serum alpha fetoprotein significantly increased. In the sister, IgA is absent and in the brother level of IgA is decreased.
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Journal title
volume 2 issue 4
pages 225- 230
publication date 1996-03
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