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Tag: endoctracheal

Case Report on Ataxia Telangectasia (AT) is a rare autosomal recessive genetic disease

Research Study
INTRODUCTION Ataxia Telangectasia (AT) is a rare autosomal recessive genetic disease resulting a progressive multi-system degeneration and characteristic findings of cerebellar ataxia, immunodeficiency, sino-pulmonary infections, interstitial lung disease and malignancy. High serum α-fetoprotein levels, retardation of somatic growth, gonadal dysgenesis and defective cell cycle checkpoints are also found.This disorder occurs world-wide, with an incidence of 1:40,000 to 1:100,000 of live births. CASE REPORT We report on a 12 year old , 17 kg , boy becoming difficulty on swallowing problem. Because of this problem it was planned lower cervical pre tracheal lymph node biopsy + feeding gastrostomy by thoracic unit. He was born at term from non consanguinity healthy parents. The boy was k/c/o At...