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Case Reports in Hepatology
Volume 2014, Article ID 761250, 5 pages
http://dx.doi.org/10.1155/2014/761250
Case Report

Nonalcoholic Steatohepatitis in a Patient with Ataxia-Telangiectasia

1Pathology Department, San Cecilio University Hospital and School of Medicine, University of Granada, Avenida de Madrid 11, 18012 Granada, Spain
2Networked Biomedical Research Center for Hepatic and Digestive Diseases (CIBERehd), Carlos III Institute of Health, Spain

Received 26 August 2013; Accepted 9 December 2013; Published 6 January 2014

Academic Editors: H. Miura and T. Tanwandee

Copyright © 2014 Trinidad Caballero et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Ataxia-telangiectasia (A-T) is a rare disease characterized by neurodegenerative alterations, telangiectasia, primary immunodeficiency, extreme sensitivity to radiation, and susceptibility to neoplasms. A-T patients have inactivation of ataxia-telangiectasia-mutated (ATM) protein, which controls DNA double-strand break repair and is involved in oxidative stress response, among other functions; dysfunctional control of reactive oxygen species may be responsible for many of the clinical manifestations of this disease. To the best of our knowledge, hepatic lesions of steatohepatitis have not previously been reported in A-T patients. The present study reports the case of a 22-year-old man diagnosed with A-T at the age of 6 years who was referred to our Digestive Disease Unit with a three-year history of hyperlipidemia and liver test alterations. Core liver biopsy showed similar lesions to those observed in nonalcoholic steatohepatitis. Immunohistochemical staining disclosed the absence of ATM protein in hepatocyte nuclei. We suggest that the liver injury may be mainly attributable to the oxidative stress associated with ATM protein deficiency, although other factors may have made a contribution. We propose the inclusion of A-T among the causes of nonalcoholic steatohepatitis, which may respond to antioxidant therapy.