Atypical Presentation of Previously Described Classical Ataxia Telangiectasia Pathogenic MutationLeyden Standish-Parkin, Jose Andres Morales, Tarik Zahouani*, Paola Carugno and Sergey Prokhorov
Department of Pediatrics, Lincoln Medical and Mental Health Center, Weill Medical College of Cornell University, New York, USA
- Corresponding Author:
- Tarik Zahouani, MD
Department of Pediatrics
Lincoln Medical and Mental Health Center
234E, 149 St. Bronx, NY 10451, USA
E-mail: [email protected]
Received Date: May 23, 2017; Accepted Date: June 05, 2017; Published Date: June 12, 2017
Citation: Standish-Parkin L, Morales JA, Zahouani T, Carugno P, Prokhorov S (2017) Atypical Presentation of Previously Described Classical Ataxia Telangiectasia Pathogenic Mutation. J Med Diagn Meth 6:245. doi:10.4172/2168-9784.1000245
Copyright: © 2017 Standish-Parkin, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Ataxia Telangiectasia (A-T) is a rare genetic disorder characterized by Cerebellar ataxia, telangiectasia, immunodeficiency and susceptibility for malignancies. The clinical presentation and severity varies in affected patients, which could point out an aspect of gene heterogeneity of this disease that is yet to be identified. This case highlights a rare presentation of a patient diagnosed with A-T, with absence of recurrent and/or severe sinopulmonary disease. A multidisciplinary approach, genetic counselling and preventive care for early cancer detection should be ensured.