Wilson's Disease

Wilson's Disease is a rare autosomal recessive disorder that results in copper build up in the body. There are both neuropsychiatric and GI/hepatic signs and symptoms.

Wilson's disease occurs in about 1 in 30,000 people. Symptoms usually begin between the ages of 5 and 35 years. Males and females are equally affected.

• Neuropsychiatric symptoms include tremors, muscle stiffness, aphasia, personality changes, anxiety, and hallucinations. Psychiatric symptoms due to Wilson's disease are present in about 15% of patients.
• Hepatic/GI symptoms include vomiting, weakness, ascites, edema, jaundice, and jaundice-associated pruritis.

Wilson's disease is an autosomal recessive disorder. It is due to a mutation in the Wilson disease protein (ATP7B) gene.

• Serum ceruloplasmin level and 24-hour urinary copper excretion should be ordered in young patients presenting with tremor to rule out Wilson's
• A CT head will often show signs of neurodegenerative disease

• “Wing-beating” tremor
• Kayser-Fleischer rings are seen on ophthalmoscopic examination by slit lamp

• Aljukić, N., Sutović, A., Avdić, L., Pajević, I., & Hasanović, M. (2013). 2080–A neuropsychiatric presentation of Wilson's disease-Case report. European Psychiatry, 28, 1.