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September 2018 By PsychDB.com

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+====== Wilson's Disease =====
+===== Primer =====
+**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.
+==== Prevalence ====
+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.
+===== Symptoms =====
+  * Neuropsychiatric symptoms include [[neurology:approaches:tremors|tremors]], muscle stiffness, [[neurology:approaches:aphasia|aphasia]], personality changes, [[anxiety:home|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.
+===== Pathophysiology =====
+Wilson's disease is an autosomal recessive disorder. It is due to a mutation in the Wilson disease protein (ATP7B) gene.
+===== Investigations =====
+  * Serum ceruloplasmin level and 24-hour urinary copper excretion should be ordered in young patients presenting with tremor to rule out Wilson's
+  * A [[neurology:investigations:neuroimaging:ct|CT head]] will often show signs of neurodegenerative disease
+===== Physical Exam =====
+  * "Wing-beating" [[neurology:approaches:tremors|tremor]]
+  * Kayser-Fleischer rings are seen on ophthalmoscopic examination by slit lamp
+===== Resources =====
+==== Case Reports ====
+  * [[https://www.sciencedirect.com/science/article/pii/S0924933813769852|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.]]