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.