BRONCHIECTASIS IN A NINE YEAR OLD GIRL: A RARE SYNDROMIC ASSOCIATION

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M. P. SWATHI KARANTH
KETAKI UTPAT
UNNATI DESAI
JYOTSNA M. JOSHI

Abstract

Ataxia telengectasia (AT) is an unaccustomed multisystemic genome instability syndrome with an autosomal recessive pattern of inheritance. It is primarily characterized by a constellation of features including cerebellar degeneration, telangiectasias, recurrent sinopulmonary infections and increased susceptibility to malignancies. Diagnostic delays can culminate in irrevocable sequelae leading to significant morbidity. We herein report a case of a nine year old child presenting with recurrent chest infections, ataxic gait and developmental delay who was diagnosed as a case of AT with a multimodality approach.

Keywords:
Ataxia telangiectasis, bronchiectasis, sinopulmonary infections, otitis media

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How to Cite
KARANTH, M., UTPAT, K., DESAI, U., & JOSHI, J. (2017). BRONCHIECTASIS IN A NINE YEAR OLD GIRL: A RARE SYNDROMIC ASSOCIATION. Journal of Case Reports in Medical Science, 2(4), 73-76. Retrieved from http://ikpress.org/index.php/JOCRIMS/article/view/618
Section
Case Report