alexa Abstract | Images in Aicardi-Goutieres Syndrome

Translational Biomedicine
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Clinical images Open Access


Aicardi-Goutieres syndrome (AGS) is a very rare genetic condition. A 16-month old girl one of twin, was born from consanguineous marriage with microcephaly, global developmental delay, hypertonia, failure to thrive has been presented here. Extensive lab work and MRI images suggested differential diagnosis of Aicardi-Goutieres, megalencephalic leukoencephalopathy with subcortical cysts, CMV TORCH intrauterine infection. The molecular testing for Aicardi-Goutieres syndrome (AGS) was performed which revealed an apparent homozygous deletion of exons 14 and 15 in the SAMHD1 gene. These exons repeatedly failed to amplify for sequence analysis which is consistent with a diagnosis of Aicardi-Goutieres syndrome. Symptomatic management and Genetic counselling done.

To read the full article Peer-reviewed Article PDF image | Peer-reviewed Full Article image

Author(s): Kallol Set


Aicardi-Goutieres syndrome, Microcephaly, Hypertonia, Translational Biomedical Research,Translational Research and Clinical Intervention

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version