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Ataxia Telangiectasia in an Ethiopian Child : Case Report

Ayalew Moges Beyene | Bio
Addis Ababa University
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  • Submited: July 27, 2019
  • Published: June 26, 2020

Abstract

    Ataxia telangiectasia (AT) is a rare, progressive, multisystem, autosomal recessive disorder that has a large number of complex and diverse manifestations, which vary with age. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, and recurrent respiratory and sinus infections. 

 We report a 10 years old Ethiopian girl, who presented with progressively increasing gait difficulties, scoliosis, ocular manifestations and bilateral chronic suppurative otitis media.

 

 Key words: Ataxia telangiectasia; Immunodeficiency; Cerbellar atophy; Ethiopia

 

 

 

 

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How to Cite
Beyene, A. M. (2020). Ataxia Telangiectasia in an Ethiopian Child : Case Report. Ethiopian Medical Journal, 58(03). Retrieved from https://www.emjema.org/index.php/EMJ/article/view/1344

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