Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.

Haydar El Hadi Babikir

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Sudan J Paed. 2011; 11(1): 60-3

Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.

Haydar El Hadi Babikir.

Abstract
Ataxia-telangiectasia (A-T) is a rare hereditary neurodegenerative disorder. Ataxia and telangiectasias are the hallmarks of the disease. A spectrum of manifestations may be seen in one family. There is no gold standard diagnostic test and diagnosis relies on clinical evaluation, exclusion of similar conditions, and supportive laboratory tests. More than 99% of individuals with classic A-T have mutations in ATM, the only gene known to be associated with ataxia-telangiectasia. We report a 28-months-old Sudanese boy who was presented with unsteady gait, frequent falls and telangectasias of the eyes. He also has had frequent episodes of respiratory tract infections.

Key words: Ataxia-telangectasia; Child; Immuno-deficiency; Sudan

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Pubmed Style

Haydar El Hadi Babikir. Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.. Sudan J Paed. 2011; 11(1): 60-3.

Web Style

Haydar El Hadi Babikir. Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.. https://sudanjp.com//?mno=280788 [Access: June 23, 2024].

AMA (American Medical Association) Style

Haydar El Hadi Babikir. Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.. Sudan J Paed. 2011; 11(1): 60-3.

Vancouver/ICMJE Style

Haydar El Hadi Babikir. Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.. Sudan J Paed. (2011), [cited June 23, 2024]; 11(1): 60-3.

Harvard Style

Haydar El Hadi Babikir (2011) Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.. Sudan J Paed, 11 (1), 60-3.

Turabian Style

Haydar El Hadi Babikir. 2011. Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.. Sudanese Journal of Paediatrics, 11 (1), 60-3.

Chicago Style

Haydar El Hadi Babikir. "Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.." Sudanese Journal of Paediatrics 11 (2011), 60-3.

MLA (The Modern Language Association) Style

Haydar El Hadi Babikir. "Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.." Sudanese Journal of Paediatrics 11.1 (2011), 60-3. Print.

APA (American Psychological Association) Style

Haydar El Hadi Babikir (2011) Classic ataxia-telangiectasia in a Sudanese boy: Case report and review of the literature.. Sudanese Journal of Paediatrics, 11 (1), 60-3.

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