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

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.