Case Presentation: A 42-year-old woman with a history of common variable immunodeficiency, asthma, cirrhosis presumed secondary to non-alcoholic fatty liver disease, subdural hematoma, epilepsy, and inflammatory polyarthritis presented to the ED with altered mental status (AMS). She was in her usual state of health, living independently until one month prior when she developed intermittent hallucinations, delusions, and confusion. On exam, she was jaundiced with abdominal tenderness and distention. She was also obtunded and did not answer questions or follow commands. Labs were pertinent for hemoglobin of 9.9 g/dL, white blood cell count of 2.2 103/uL, platelets 35 103/uL, serum creatinine of 2.9 mg/dL with a baseline of 0.7 mg/dL, AST 75 U/L, ALT 114 U/L, and total bilirubin 2.5 mg/dL. CT of her abdomen showed marked ascites. She was admitted to the hospital with presumed decompensated cirrhosis and hepatic encephalopathy. She underwent a large volume paracentesis with 4 L of fluid drained. Ascitic fluid studies were not consistent with spontaneous bacterial peritonitis. She was transferred to a tertiary medical center 2 days later for worsening liver failure. There, she was evaluated by the neurology, hematology, and liver services for ongoing confusion and pancytopenia. EEG was negative for epileptiform activity and MRI showed grey matter parenchymal atrophy. Her confusion persisted despite treatment with lactulose and rifaximin for hepatic encephalopathy. On hospital day 5, she was found to have elevated urinary copper (778 mcg/24 hr) and decreased serum ceruloplasmin (13.2 mg/dL). On hospital day 10, needle biopsy of the liver revealed elevated copper in her liver (676 mcg/g), confirming a diagnosis of Wilson’s disease. She was started on triamterene and zinc and had improved mental status and orientation at the time of discharge.
Discussion: Wilson’s disease is a rare disease, with a prevalence of about 1 in 30,000 people in the United States and a life expectancy of approximately 40 years old without liver transplant [1]. It is an autosomal recessive disease caused by dysfunction in ATP-mediated copper transport and excretion [2] leading to copper accumulation in the liver, which eventually leaks into extrahepatic tissues, including the brain [2,3]. It is typically associated with neuromuscular changes including parkinsonism, hemiballismus, and dysarthria [4], however, hallucinations, delusions, and other psychotic symptoms are a rare presentation of this illness. Wilson’s disease remains a diagnosis of exclusion after ruling out infectious, toxic-metabolic, inflammatory, and vascular causes of encephalopathy. Although NAFLD is a common cause of cirrhosis, patients presenting with cirrhosis and behavioral changes should also be evaluated for Wilson’s disease. Additionally, between 20-60% of patients with Wilson’s disease will develop comorbid major depressive disorder [5], and as such should receive mental health screening at the time of diagnosis.
Conclusions: Psychotic symptoms are a rare presentation of Wilson’s disease. Although NAFLD constitutes a significant portion of cirrhosis cases, Wilson’s disease should be included in a thorough workup of cirrhosis concomitant with neuropsychiatric symptoms. Increased awareness of this presentation may result in faster time-to-diagnosis and medical intervention.
