September 2018 By


This shows you the differences between two versions of the page.

Link to this comparison view

Both sides previous revision Previous revision
cl:wilsons-disease [September 2018] [Physical Exam]
cl:wilsons-disease [September 2018] (current) [Physical Exam]
Line 1: Line 1:
 +====== 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://​​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.]]