Wafa Nassir Asmari, Saeed A Alfadhil, Muhammad A Shakir, Ahmed Saleh Albishri, Muhamed Fathi Ibrahim, Walid Fawzy Muhammad.
Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the age of 4 Years..
J Coll Physicians Surg Pak Jan ;30(10):1102-4.
Ataxia-telangiectasia (A-T) is a genetically inherited disease, which is transmitted as an autosomal recessive disorder. There is a high incidence of consanguineous marriages in our area, so we believe that A-T may have higher incidence. A-T is characterised clinically by triad of cerebellar degeneration, telangiectasia, and immunodeficiency. We are reporting a 4-year girl with a novel genetic variant of AT, which is not reported before in local or international literature. She presented with necrotising pneumonia complicated by bronchopleural fistulae. She was treated successfully with antimicrobials and intravenous immunoglobulins and other supportive measures without surgical intervention. Key Words: Ataxia telangiectasia, Necrotising pneumonia, Bronchopleural fistulae.
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