International Journal of
Medicine and Medical Sciences

  • Abbreviation: Int. J. Med. Med. Sci.
  • Language: English
  • ISSN: 2006-9723
  • DOI: 10.5897/IJMMS
  • Start Year: 2009
  • Published Articles: 531

Case Report

Delayed diagnosis of ataxia-telangiectasia in an adolescent patient

Ahmet Sert
  • Ahmet Sert
  • Department of Pediatrics, Konya Training and Research Hospital, Konya, Turkey.
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Dursun Odabas
  • Dursun Odabas
  • Department of Pediatrics, Konya Training and Research Hospital, Konya, Turkey.
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Bahar Demir
  • Bahar Demir
  • Department of Pediatrics, Konya Training and Research Hospital, Konya, Turkey.
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Cengizhan Kilicarslan
  • Cengizhan Kilicarslan
  • Department of Pediatrics, Konya Training and Research Hospital, Konya, Turkey.
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  •  Accepted: 07 October 2010
  •  Published: 30 November 2010

Abstract

Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disorder characterized by cerebellar ataxia, telangiectasies, immune defects, and a predisposition to malignancy. Patients present in early childhood with progressive cerebellar ataxia and later develop conjunctival telangiectases, other progressive neurologic degeneration, sinopulmonary infection and malignancies. Under-diagnosis or diagnostic delay of AT and its pulmonary complications contribute to morbidity and early mortality. We reported a patient who, due to a delay in diagnosis of AT, presented with bronchiectasis at the age of seventeen. To reduce the morbidity associated with AT, there needs to be greater awareness of the respiratory complications. Early management and monitoring lung function can minimize pulmonary damage.

Key words: Adolescent, ataxia-telangiectasia, bronchiectasis.