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Wilson Disease

 Syn. WD , Cerebral Pseudoscleroses , Hepato Neurologic Wilson Disease

Signs & Symptoms

 Drooling #neurologic_Wilson_disease
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]
Neurologic symptoms
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]
Psychiatric symptoms
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]
Risus sardonicus #neurologic_Wilson_disease
Note: sardonic expression, due to dystonic spasm of the facial muscles
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]

Physical Examination

 Dysarthria #neurologic_Wilson_disease
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]
Bizarre behavior
Ref: Epocrates [ https://online.epocrates.com/diseases/42731/Wilson-disease/Diagnostic-Approach]
Emotional lability
Ref: Epocrates [ https://online.epocrates.com/diseases/42731/Wilson-disease/Diagnostic-Approach]

Lab / Serology

 Declining school performance #psychiatric_symptoms
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]
Increased urinary copper
Ref: Harrison [ 2335]
Decreased serum ceruloplasmin
Ref: Harrison [ 2335]

Imagin Study

 Hepatomegaly #acute_hepatitis #acute_liver_failure #chronic_hepatitis
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]
Splenomegaly #cirrhosis
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease]
Ascites #cirrhosis
Ref: Uptodate [ Clinical manifestations, diagnosis, and natural history of Wilson disease] Epocrates [ https://online.epocrates.com/diseases/42731/Wilson-disease/Diagnostic-Approach]

Complication

Risk Factors

Cause

Other