BMJ Case Reports 2012; doi:10.1136/bcr-2012-007246
  • Rare disease

Ataxia telangiectasia: learning from previous mistakes

  1. Gunjan kumar
  1. Department of Internal Medicine, PGIMER & Dr Ram Manohar Lohia Hospital, New Delhi, India
  1. Correspondence to Dr Puneet Aggarwal, puneetaggarwal4u{at}


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.

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