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BMJ Case Rep. 2012 Dec 14;2012. pii: bcr2012007246. doi: 10.1136/bcr-2012-007246.

Ataxia telangiectasia: learning from previous mistakes.

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  • 1Department of Internal Medicine, PGIMER & Dr Ram Manohar Lohia Hospital, New Delhi, India.

Abstract

Ataxia telangiectasia is an early onset neurodegenerative disorder. We report a case of childhood onset ataxia and ocular telangiectasia, presenting with pulmonary infection. The patient was diagnosed as ataxia telangiectasia. The patient succumbed to death owing to late diagnosis and sepsis.

PMID:
23242084
[PubMed - indexed for MEDLINE]
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