Abstract:
Ataxia-telangiectasia (AT) is a primary immunodeficiency disease with multisystem disorder characterized by progressive neurologic
impairment, variable immunodeficiency, impaired organ maturation, oculo-cutaneous telangiectasia, and a predisposition to
malignancy. It is a variable immunodeficiency involving both cellular and humoral responses and a predisposition to cancer. In 1995, a
large gene was identified on chromosome 11q22-q23, known as AT Mutant(ATM) gene and the lack of its gene product, the ATM
protein, is responsible for the clinical features of AT. Here we present a case of ataxia telangiectasia in a 16 year old female who
presented with progressive ataxia.