Wilson Disease

Frequency: Internationally: Incidence is 1 in 35,000-100,000 live births, with a gene frequency of 0.56%; the incidence in Sardinia may be higher.

Mortality/Morbidity: Once patients are symptomatic, Wilson disease is fatal if untreated. Patients who present with fulminant liver failure have a mortality rate as high as 70%.

Age: The onset of liver disease is usually at age 8-16 years. Neurological symptoms are rare before age 12 years.



Neurological signs

Psychiatric signs

Skeletal abnormalities

Ophthalmic findings

Other physical findings

Lab Studies:

No one test is completely reliable; diagnosis depends upon a high index of suspicion and supporting laboratory abnormalities.

Imaging Studies:


Histologic Findings:


Drug info


E-medicine: Wilson Disease (Last Updated: June 17, 2004) http://www.emedicine.com/NEURO/topic570.htm