ABSTRACT

Ataxia-telengiectasia (AT) is a rare multisystemic autosomal-recessive disease characterized with oculocutaneous telengiectasies, recurrent sinopulmonary infections associated with humoral and cellular immune deficiencies, increased sensitivity to ionizing radiation and susceptibility to malignancies. Prevalence of the disease is known to be 1–3/40000- 100.000. Our case is a 6 years old female patient who was admitted to our hospital with recurrent sinopulmoner infections and imbalanced walking. She is diagnosed as ataxia telengiectasia. In this article we reviewed the literature and discussed AT with clinic and pathologic properties which are rarely seen.

Keywords: Ataxia telengiectasia, recurrent sinopulmoner infections, differential diagnosis