Ataxia telangiectasia in a 10 years old girl: A case report

Ataxia telangiectasia (AT) is an autosomal recessive genetic disease, which mainly effects the nervous and immune system. Disease onset is between the age of 1 and 4 years. The usual presentation is a neurodegenerative disorder, with progressive cerebellar ataxia, ocular or cutaneous telangiectasia along with recurrent infections and high cancer incidence. AT patients has sensitivity to ionizing radiation. Here we present a 10 years old girl with a presentation which leaded us to the diagnosis of ataxia telangiectasia.