A Rare Case of Ataxia Telangiectasia with Pulmonary Tuberculosis
Journal Title: Journal of Medical Science And clinical Research - Year 2014, Vol 2, Issue 6
Abstract
Ataxia Telangiectasia (A-T, Louis Bar syndrome) is a rare autosomal recessive multisystem disorder caused by a mutation in the ATM gene located at 11q22-q23, involved in DNA repair and cell-cycle regulation. The diagnosis of A-T is based on the typical clinical picture-ataxia and telangiectasias. However the definitive diagnosis is by identification of the mutated ATM gene with supportive evidence of raised alpha-feto-protein(AFP) and reduced IgA fraction. Recurrent sinopulmonary infections are common affecting 90% of patients and usually results in chronic bronchitis, bronchiectasis or both. Here we report a rare association of pulmonary tuberculosis with A-T. This 11 year old female had typical clinical features of ataxia and telangiectasia with elevated AFP (254ng/ml) and reduced IgA (<10mg/dl).Sputum for AFB was positive with radiological findings suggestive of pulmonary tuberculosis .Because of the rarity of A-T in India, we report this case to help pediatricians make an early diagnosis.
Authors and Affiliations
FAIRY SUSAN VARGHESE
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