Ataxia Telangiectasia: A Case Report

Authors

  • Sheikh Farjana Sonia MD (part-3) student, Bangladesh Institute of Child Health (BICH), Dhaka
  • Mohammad Sayeed Hassan Junior Consultant, National Institute of Neurosciences, Dhaka
  • Abdullah Yusuf Assistant Professor, National Institute of Neurosciences, Dhaka
  • Ferdous Ara Assistant Professor, National Institute of Neurosciences, Dhaka
  • SC Mojumder Registrar, Neurology unit, Bangladesh Institute of Child Health (BICH), Dhaka

DOI:

https://doi.org/10.3329/jssmc.v6i1.31493

Keywords:

Ataxia telangiectasia, neurological impairment, chromosomal breakage syndromes, mutation

Abstract

Ataxia telangiectasia (AT) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and occulo-cutaneous telangiectasia. Ataxia telangiectasia is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. We are reporting an eight year old girl of AT presented with difficulty in walking, frequent fall, trembling of the whole body, difficulty in speech.

J Shaheed Suhrawardy Med Coll, June 2014, Vol.6(1); 41-43

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Author Biography

Sheikh Farjana Sonia, MD (part-3) student, Bangladesh Institute of Child Health (BICH), Dhaka



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Published

2017-03-07

How to Cite

Sonia, S. F., Hassan, M. S., Yusuf, A., Ara, F., & Mojumder, S. (2017). Ataxia Telangiectasia: A Case Report. Journal of Shaheed Suhrawardy Medical College, 6(1), 41–43. https://doi.org/10.3329/jssmc.v6i1.31493

Issue

Vol. 6 No. 1 (2014)

Section

Case Reports

License

Copyright ©2015 Shaheed Suhrawardy Medical College Teachers’ Association.