Abstract

DELFINO, Marcos et al. Ataxia-telangiectasia (síndrome de Louis-Bar). Arch. Pediatr. Urug. [online]. 2006, vol.77, n.2, pp.154-159. ISSN 1688-1249.

Summary The clinical case of an uncommon pediatric illness is presented. A 7 year old girl with an abnormal neurological development and cerebellum symptoms who added chronic respiratory symptoms was diagnosed with Louis-Bar syndrome (ataxia-telangiectasia). Laboratory studies were performed in order to confirm diagnosis, and available palliative treatment was started. She died at the age of 9. Etiology and diagnostic criteria are reviewed

Keywords :  ATAXIA TELANGIECTASIA;   RESPIRATORY TRACT DISEASES;   DISEASE PROGRESSION.

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