Document Type : case report
Authors
- Mohammad Ali Kiani 1
- Hamidreza Kianifar 1
- Sayyad Ali Jafari 2
- Maryam khalesi 2
- Niloofar Rahimpour 3
- Sayyed Amir Hossein Ghazizadeh Hashemi 4
- Arefeh Abavisani 5
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
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