A Rare Case of Ataxia Telangiectasia with Pulmonary Tuberculosis

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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

Keywords

Comparison of total image quality in Tissue Harmonic Imaging as compared to conventional ultrasound technique in abdominal and pelvic ultrasonography

The study was conducted at the Department of Radiodiagnosis and Imaging, Army Hospital (Research & Referral), Delhi Cantt on 200 patients (114 females, 86 males) with varying age and BMI (Body Mass Index) from year 2005...

EP ID EP205939
DOI -
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