A Case of Wilson's Disease With Early Neuropsychiatric and Late Hepatic Manifestations

Le résumé fourni par la source

Wilson's disease (WD) is a rare genetic disorder that affects copper metabolism, primarily presenting with hepatic and central nervous system symptoms. Early detection can be challenging due to its variable presentation. In this case, we discuss a 44-year-old female with a six-year history of chronic neurogenic pain, migraines, alcohol use disorder, major depressive disorder, and recent unexplained abdominal pain. She presented to the emergency room with ascites, fulminant hepatic failure, and acute kidney injury. Despite her previously stable health, her condition rapidly decompensated over a month with the onset of hepatic failure. Decompensated cirrhosis secondary to non-alcoholic steatohepatitis or alcoholic hepatitis was suspected. Still, a positive ceruloplasmin study and the presence of Kayser-Fleischer rings observed on slit-lamp examination ruled in WD. This case highlights a late-onset presentation of WD. With early diagnosis and treatment, the fatal sequelae of WD can be prevented. Along with this case, the classifications of WD, its common and unique features, and the diagnostic criteria were reviewed.

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