Case Report: Werner Syndrome with Non-Alcoholic Fatty Liver Disease and Elevated Liver Function Tests in a 17-Year-Old Male

Document Type : case report

Authors

1 Professor of Pediatric Gastroenterology and Hepatology, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

2 Associate Professor of Pediatric Gastroenterology and Hepatology, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

3 Pediatric Resident, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

4 Associate Professor of Otorhinolaryngology, Head and Neck Surgery, Department of Otolaryngology, Loghman Educational Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

5 Pediatric Gastroenterology and Hepatology Fellow, Department of Pediatric Gastroenterology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

Abstract

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 17-year-old male diagnosed with Werner syndrome who presented with grade 2 NAFLD and elevated liver function tests (LFTs).
Case Presentation: A 17-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 2 fatty liver, and liver biopsy confirmed moderate steatohepatitis (activity grade 6, stage 2). 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.

Keywords

References

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Journal of Pediatric Perspectives
Volume 13, Issue 2
February 2025
Pages 19331-19336

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