Rubela Ray, MD1, Kristina Patel, MD2, Darshankumar Raval, MD3 1University of Wyoming, Cheyenne, WY; 2University of Arkansas, Texarkana, AR; 3Elmhurst Hospital Center / Icahn School of Medicine at Mount Sinai, Youngstown, OH Introduction: Wilson’s disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to defective hepatic copper excretion and systemic copper accumulation. While hepatic symptoms typically dominate in younger patients, neuropsychiatric manifestations may be the initial presentation in young adults, posing a diagnostic challenge. We report a case of Wilson’s disease initially misdiagnosed as a primary psychiatric illness.
Case Description/
Methods: A 22-year-old male with no prior medical or psychiatric history was brought to the emergency department due to progressive personality changes, emotional outbursts, and academic decline over six months. He developed irritability, social withdrawal, tremors, and poor attention. Psychiatric evaluations led to a presumptive diagnosis of schizophrenia, and antipsychotics were started with minimal improvement.
Two months later, he presented with scleral icterus, abdominal distension, and worsening tremors. Examination revealed hepatosplenomegaly, dysarthria, rigidity, and asterixis. Slit-lamp exam showed Kayser-Fleischer rings. Labs showed AST 132 U/L, ALT 98 U/L, total bilirubin 5.2 mg/dL, INR 1.8, albumin 2.6 g/dL, and ceruloplasmin 6 mg/dL. 24-hour urinary copper excretion was 367 μg (normal < 40 μg/24 hr). MRI brain revealed symmetric T2 hyperintensities in the basal ganglia.
Wilson’s disease was diagnosed based on clinical, biochemical, and radiologic findings. D-penicillamine and zinc acetate were initiated. Over several months, his neuropsychiatric symptoms improved, and liver function stabilized with close hepatology and neurology follow-up. Discussion: This case underscores the importance of considering Wilson’s disease in young patients presenting with unexplained psychiatric symptoms, especially when neurological or hepatic signs emerge. Psychiatric symptoms may precede hepatic manifestations by months or even years, leading to diagnostic delay and inappropriate treatment. Characteristic findings such as low ceruloplasmin, elevated urinary copper, and basal ganglia MRI abnormalities support early diagnosis. Kayser-Fleischer rings are a helpful but not universal finding. Early initiation of chelation therapy can reverse symptoms and prevent irreversible liver damage or need for transplantation. This case reinforces the need for high clinical suspicion and interdisciplinary collaboration in atypical psychiatric presentations.
Disclosures: Rubela Ray indicated no relevant financial relationships. Kristina Patel indicated no relevant financial relationships. Darshankumar Raval indicated no relevant financial relationships.
Rubela Ray, MD1, Kristina Patel, MD2, Darshankumar Raval, MD3. P6115 - Neuropsychiatric Unmasking of Wilson’s Disease: A Diagnostic Challenge With Hepatic Implications, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.
