Ataxia-telangiectasia (A-T) is a rare hereditary neurodegenerative disorder. Ataxia and telangiectasias are the hallmarks of the disease. Due to its wide clinical heterogeneity, it often leads physicians to an incorrect or missed diagnosis, and insight into this rare disease is important. There is no gold standard diagnostic test and diagnosis relies on clinical evaluation, exclusion of similar conditions, and supportive laboratory tests. More than 99% of individuals with classic A-T have mutations in ATM, the only gene known to be associated with ataxia-telangiectasia.We report 10 year old boy who was presented with respiratory tract infections, unsteady gait, frequent falls and telangectasias of the eyes. He also has had frequent episodes of respiratory tract infections.
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Author Name: Khaire P B , Dahyalkar A A , Patil M A , Kachhap R and Kasliwal C A.
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Keywords: Ataxia-telangectasia;neurodegenerative disease.
ISSN: 2320-5407
EISSN: 2320-5407
EOI/DOI: http://dx.doi.org/10.21474/IJA
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