Ataxia Telangiectasia in an Ethiopian Child : Case Report


  • Ayalew Moges Beyene Addis Ababa University


    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


Chun HH, Gatti RA. Ataxia-Telangiectasia, an Evolving Phenotype.DNA Repair 2004; 3 (8-9): 1187-1196

Taylor AM, Byrd PJ. Molecular Pathology of Ataxia-Telangiectasia. Journal of Clinical Pathology 2005; 58:


Ball LG, Xiao W. Molecular basis of ataxia telangiectasia and related diseases.Acta Pharmacol Sin.2005; 26: 897-907

Tranchant C, Anheim M. Ataxies cérébelleuses autosomiques récessives.Presse Med 2009; 38:1852-1859

Bott L, Thumerelle C, Cuvellier C, Deschildre A, Vallée L, Sardet A. Ataxie-télangiectasie: de la

Clinique à la physiopathologie.Archives de pé Diatrie 2006; 13: 293-298.

Perlman S, Becker CS,Gatti RA. Ataxia-Telangiectasia: Diagnosis and Treatment. Seminars in

Pediatric Neurology2003; 10: 173-182.

Gatti R. Ataxia-telangiectasia. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews.

Seattle (WA): University of Washington, Seattle; 1993-1999 Mar 19

Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single Ataxia-Telangiectasia gene with

A product similar to PI-3 kinase.Science 1995; 268: 1749–53.

Ataxia telangiectasia in children - Guidance on diagnosis and clinical care. The A-T Specialist Centre

Nottingham City Hospital Campus, Nottingham University Hospitals NHS Trust, the University of Birmingham,

The Ataxia Telangiectasia Society 2014

Kühne, M., Riballo, E., Rief, N., Rothkamm, K., Jeggo, P.A. and Löbrich, M. 200 a Double-Strand Break Repair

Defect in ATM-Deficiency Cells Contributes to Radiosensitivity. Cancer Research; 64:500-508.

Thompson, D., Daedal, S., Kirner, J., McGuffog, L., Last, J., Reiman, A., et al. (2005) Cancer Risks and Mortality in

Heterozygous ATM Carriers.Journal of the National Cancer Institute; 97: 813-822.

De Laet, C., Casimir, G., DuchPteau, J., Vamos, E., Devaick, C., Sariban, E. and Feaster, A. (1996) Lymphome T

Leucémisécomme première manifestation d’uneataxietélangiectasie. Archives de pé Diatrie; 3: 681-684.

Cavaciuti, E., Lauge, A., Janin, N.,Ossian, K., Hall, J., Stoppa-Lyonnet, D. and Andrieu, N. 2005. Cancer Risk According

to Type and Location of ATM Mutation in Ataxia-Telangiectasia Families. Genes, Chromosomes Cancer; 42: 1-9.