Authors :
Dr. Swetha Sunkara; Dr. Rekha S Patil
Volume/Issue :
Volume 10 - 2025, Issue 2 - February
Google Scholar :
https://tinyurl.com/4mc8wkjh
Scribd :
https://tinyurl.com/2ukwtrur
DOI :
https://doi.org/10.5281/zenodo.14979294
Abstract :
Wilson disease is a rare autosomal recessive disorder characterized by impaired copper metabolism, leading to
copper accumulation in various organs.
This case report describes a 19-year-old female who presented with icterus as the initial manifestation of Wilson
disease. Early recognition and treatment are crucial in preventing irreversible complications. This report highlights the
diagnostic challenges and management strategies associated with this rare condition.
References :
- Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update.
- Hepatology. 2008;47(6):2089-2111.
- Ferenci P. Pathophysiology and clinical features of Wilson disease. Metab Brain Dis. 2004;19(3-4):229-239.
4. Ala A, Walker AP, Ashkan K, Dooley JS, Schilsky ML. Wilson's disease. Lancet. 2007;369(9559):397-408
Wilson disease is a rare autosomal recessive disorder characterized by impaired copper metabolism, leading to
copper accumulation in various organs.
This case report describes a 19-year-old female who presented with icterus as the initial manifestation of Wilson
disease. Early recognition and treatment are crucial in preventing irreversible complications. This report highlights the
diagnostic challenges and management strategies associated with this rare condition.