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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