• Wafa Nassir Asmari, Saeed A Alfadhil, Muhammad A Shakir, Ahmed Saleh Albishri, Muhamed Fathi Ibrahim, and Walid Fawzy Muhammad.
• Department of Paediatric, Armed Forces Hospital, Southern Region, Khamis Mushayt, Saudi Arabia.
• J Coll Physicians Surg Pak. 2020 Oct 1; 30 (10): 1102-1104.

AbstractAtaxia-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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