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Med J Bakirkoy. 2007; 3(2): 73-77

Ataxia-telengiectasia: A case report

Metin Uysalol, Nurşah Eker, Ahmet İncioğlu, Ezgi Paslı.

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.

Key words: Ataxia telengiectasia, recurrent sinopulmoner infections, differential diagnosis.

Ataksi telenjiektazi: Olgu sunumu

Ataksi-telenjiektazi; ilerleyici serebellar ataksi, okülokutanöz telenjiektaziler, humoral ve hücresel immün yetmezliğe bağlı tekrarlayan sinopulmoner enfeksiyonlar, iyonize radyasyona aşırı duyarlılık ve kanser gelişimine yatkınlıkla karakterize, nadir görülen ve otozomal resesif geçişli, bir multisistem hastalığıdır. Sıklığı 1–3/40.000–100.000 arasında bildirilmiştir. Olgumuz olan 6 yaşında kız hasta sık tekrarlayan sinopulmoner enfeksiyonlar ve dengesizlik nedeni ile hastanemize başvurmuş ve ataksi-telenjiektazi (AT) tanısı almıştı. Bu makalede bir olgu nedeniyle, ilgili literatür gözden geçirilerek nadir görülen bir hastalık olan AT’yi klinik ve patolojik özellikleri ile tartıştık.

Anahtar Kelimeler: Ataksi-telenjiektazi, tekrarlayan sinopulmoner infeksiyonlar, ayırıcı tanı

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