Resumo

LAZO RIVERA, Edwin  e  PASTOR VIZCARRA, Luis Fernando. Ataxia-Telangiectasia: Case report. Rev Neuropsiquiatr [online]. 2014, vol.77, n.4, pp.283-287. ISSN 0034-8597.

We report the case of a 9-year-old from the Cusco region, with progressive deterioration of neurological condition characterized by cerebellar symptoms associated with a history of repeated respiratory infections and clinical and laboratory features that allowed reaching the diagnosis of Ataxia-Telangiectasia, little reported disease in our country. The pathogenesis, diagnostic criteria and therapeutic approaches currently available are reviewed.

Palavras-chave : Ataxia-telangiectasia; inmunodeficiency; respiratory infections.

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