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A Rare Case Report : Ataxia Telangiectasia

Sangeetha S, Subramanian S.R. .

Abstract


Ataxia  Telangiectasia  is a rare inherited as     autosomal recessive disease  with  progressive degeneration of multisystem disorder. A-T is characterized by progressive cerebellar degeneration(1),oculo cutaneous  telangiectasia, immunodeficiency,recurrent sinopulmonary infections, radiation sensitivity, premature aging, and    predisposition to cancer development. Ataxia and   Telangiectasias are the hallmarks of the disease.  There is no gold standard diagnostic test and diagnosis relies on clinical evaluation and supportive laboratory tests .More than 99% of individuals with A-T have mutations in ATM gene mapped on 11q22-23, the only gene known to be associated with   ataxia- telangiectasia.

       We report a 17 years old girl who was presented in our hospital with respiratory failure with history of unsteady gait, frequent falls, repeated chest infections, and    telangectasias of the eyes.

 Keywords: Ataxia telangectasia, Immunodeficiency,   neurodegenerative disease, alpha – fetoprotein (AFP),    carcinoembryonic antigen (CEA).


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