Title: Ataxia Telangiectasia- A Case Report
Authors: Muhamed Shabeer, Asok Nanda, Nasreen Ali, Biswajith Pattnaik
DOI: https://dx.doi.org/10.18535/jmscr/v5i6.19
Abstract
Ataxia Telangiectasia (AT) is a rare autosomal recessive disease with multisystem disorder. A-T is characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent Sino pulmonary infections, radiation sensitivity, premature aging, and a predisposition to cancer development.
Here we report a case of 6-year-old female child who presented to our pediatric department with complaints of unsteady gait, feeding difficulty, hand mouth in coordination, slurring of speech diagnosed to be a case of Ataxia Telangiectasia. Our aim is to create a deep insight into the subject and help in adding valuable knowledge to the same.
Keywords: Ataxia telangiectasia, ATM gene, Cerebellar Atrophy.
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