Case Report: Werner Syndrome with Non-Alcoholic Fatty Liver Disease and Elevated Liver Function Tests in a ۱۷-Year-Old Male

Background: Werner syndrome (WS) is a rare autosomal recessive disorder characterized by premature aging and various metabolic complications. Non-Alcoholic Fatty Liver Disease (NAFLD) is primarily associated with metabolic syndrome, but its occurrence in young patients with WS is rarely reported. We describe the case of a ۱۷-year-old male diagnosed with Werner syndrome who presented with grade ۲ NAFLD and elevated liver function tests (LFTs).Case Presentation: A ۱۷-year-old male, born to consanguineous parents, presented with clinical features suggestive of premature aging. Genetic testing confirmed a mutation in the WRN gene, establishing a diagnosis of Werner syndrome. Liver ultrasound revealed grade ۲ fatty liver, and liver biopsy confirmed moderate steatohepatitis (activity grade ۶, stage ۲). Elevated liver enzymes were observed, although other metabolic parameters were within normal limits.Conclusion: This case highlights the importance of recognizing liver involvement in patients with Werner syndrome and underscores the need for routine monitoring and a multidisciplinary approach to management. Genetic counseling is essential for families with consanguineous backgrounds to reduce the risk of autosomal recessive conditions like WS.

کلیدواژه ها:

autosomal recessive disorder ، Non-alcoholic fatty liver disease ، Werner syndrome ، WRN gene