Ataxia-Telangiectasia a rare disease in two sibling

  • Jyoti k Junior resident department of pediatrics ,Rajendra institute of medical sciences, Ranchi
  • Shashi ranjan Junior resident ,department of medicine , Institute of medical sciences , Banaras Hindu University,Varanasi
  • Meenakshi Chaubey Junior resident department of pediatrics ,Rajendra institute of medical sciences, Ranchi
  • Nilesh kumar Senior resident ,department of medicine , Institute of medical sciences , Banaras Hindu University,Varanasi
  • Ankur nandan Varshney Junior resident ,department of medicine , Institute of medical sciences , Banaras Hindu University,Varanasi
  • Arvind anand Junior resident, department of medicine , Institute of medical sciences , Banaras Hindu University,Varanasi
Keywords: Ataxia telangectasia, inherited disorders, neurodegenerative disorders, alfa-feto protein

Abstract

Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. Mutations in the ATM gene cause ataxia-telangiectasia . we are going to report two sibling presented with Ataxia and Bulbar conjuctival telangiectasia.

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Published
2012-12-15
How to Cite
k, J., ranjan, S., Chaubey, M., kumar, N., Varshney, A. nandan, & anand, A. (2012). Ataxia-Telangiectasia a rare disease in two sibling. Asian Journal of Medical Research, 2(1), 4-6. Retrieved from https://aijournals.com/index.php/ajmr/article/view/124
Issue
Vol 2 No 1 (2013): Volume: 2 | Issue: 1, Jan-Mar 2013
Section
Case Report

Copyright (c) 2012 Asian Journal of Medical Research

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