SHM Converge Scientific Abstract ePoster Gallery-Fulminant Wilson Disease Unmasked by Post-Infectious Multi-System Failure

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This case report describes a 20-year-old man with an atypical presentation of Wilson disease, a rare genetic disorder caused by impaired copper metabolism leading to copper accumulation in the liver, brain, and other organs. Because Wilson disease can cause progressive and potentially fatal hepatic dysfunction, prompt diagnosis is critical.<br /><br />The patient presented with rash and edema after a recent strep test and a single dose of amoxicillin. He had no relevant past medical history, no alcohol use, and no family history of liver disease. On examination, he was jaundiced with scleral icterus, had Kayser-Fleischer rings, Murphy’s sign, and hepatosplenomegaly, but no focal neurologic or psychiatric abnormalities.<br /><br />Laboratory findings showed severe liver injury and multisystem involvement, with peak creatinine 2.51 mg/dL, AST 576 U/L, ALT 306 U/L, total bilirubin 27.5 mg/dL, and normal alkaline phosphatase. Diagnostic workup supported Wilson disease, including Kayser-Fleischer rings, elevated 24-hour urine copper (1,741 µg/24 hr), and serum ceruloplasmin of 20 mg/dL. Genetic testing identified pathogenic variants consistent with Wilson disease.<br /><br />The patient was treated with trientine 500 mg orally daily, and liver transplantation was considered. The case highlights how Wilson disease can present acutely, without family history, and with transient hepatic improvement even without treatment, making diagnosis difficult. It emphasizes the importance of considering Wilson disease in young patients with unexplained liver failure and starting treatment early to prevent irreversible neurologic damage and fatal hepatic progression.

Asset Subtitle

Samantha MacGavin

Meta Tag

Author List Molly Fisher, Samantha MacGavin

Category Clinical Vignettes

Concept Wilson Disease

Concept Kayser-Fleischer Ring

Concept 24-Hour Urine Copper

Concept Serum Ceruloplasmin

Concept Irreversible Neurologic Damage

Distinguished Non-Finalist

Presenter Organization Drexel University College of Medicine

Presenting Author Samantha MacGavin

Track Adult

Keywords

Wilson disease

copper metabolism

Kayser-Fleischer rings

hepatic dysfunction

liver failure

ceruloplasmin

urine copper

trientine

hepatosplenomegaly

genetic disorder

Wilson Disease

Kayser-Fleischer Ring

24-Hour Urine Copper

Serum Ceruloplasmin

Irreversible Neurologic Damage