Article
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.
The American journal of case reports - 18 Sept 2015
Navratil Marta, Đuranović Vlasta, Nogalo Boro, Švigir Alen, Dumbović Dubravčić Iva, Turkalj Mirjana
Abstract excerpt
BACKGROUND: Ataxia-telangiectasia (A-T) is an autosomal recessive disease that consists of progressive cerebellar ataxia, variable immunodeficiency, sinopulmonary infections, oculocutaneous telangiectasia, radiosensitivity, early aging, and increased incidence of cancer. CASE REPORT: We report the case of an 8-year-old boy affected by A-T. At 12 months of age, he had a waddling gait, with his upper body leaning...
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