BRONCHIECTASIS IN A NINE YEAR OLD GIRL: A RARE SYNDROMIC ASSOCIATION
M. P. SWATHI KARANTH
Department of Pulmonary Medicine, T. N. Medical College, B. Y. L. Nair Hospital, Mumbai, India
KETAKI UTPAT
Department of Pulmonary Medicine, T. N. Medical College, B. Y. L. Nair Hospital, Mumbai, India
UNNATI DESAI
Department of Pulmonary Medicine, T. N. Medical College, B. Y. L. Nair Hospital, Mumbai, India
JYOTSNA M. JOSHI *
Department of Pulmonary Medicine, T. N. Medical College, B. Y. L. Nair Hospital, Mumbai, India
*Author to whom correspondence should be addressed.
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