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Rare disease
Ataxia telangiectasia: learning from previous mistakes
  1. Naveen Kumar,
  2. Puneet Aggarwal,
  3. Nishanth Dev,
  4. Gunjan kumar
  1. Department of Internal Medicine, PGIMER & Dr Ram Manohar Lohia Hospital, New Delhi, India
  1. Correspondence to Dr Puneet Aggarwal, puneetaggarwal4u{at}gmail.com

Summary

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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