Open AccessAtaxia Telangiectasia: A Case Report
Author(s) -
Sheikh Farjana Sonia,
Mehdi Hassan,
Abdullah Yusuf,
Ferdous Ara,
SC Mojumder
Publication year - 2017
Publication title -
the journal of shaheed suhrawardy medical college/journal of shaheed suhrawardy medical college
Language(s) - English
Resource type - Journals
eISSN - 2306-2843
pISSN - 2226-5368
DOI - 10.3329/jssmc.v6i1.31493
Subject(s) - ataxia telangiectasia , medicine , ataxia , telangiectasia , dermatology , girl , immunodeficiency , audiology , pediatrics , immunology , genetics , psychiatry , dna , immune system , dna damage , biology
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