Ataxia Telangiectasia in an Ethiopian Child : Case Report

Authors

  • Ayalew Moges Beyene Addis Ababa University

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

 

 

 

 

Author Biography

Ayalew Moges Beyene, Addis Ababa University

Pediatrician & Pediatric Neurologist,delartment of Pediatrics and Child Health, School of Medicine, College of Health Sciences, Addis Ababa University

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Published

2020-06-26