Rotational NystagmusFebruary 22, 2019
Von Hippel-Lindau DiseaseFebruary 22, 2019
Wilson Disease aka Hepatolenticular Degeneration
Wilson Disease is caused by an autosomal recessive mutation in the ATP7B gene.
This results in dysfunctional transport of copper into apoceruloplasmin. This decreases the levels of serum ceruloplasmin because the copper cannot leave the liver. Copper builds up causing liver disease and eventually spills out into the blood stream. Deposits of copper can sometimes be found in the cornea of the eye known as Kayser Fleischer rings. Look for patients with symptoms based on common areas of copper deposition: liver disease, neurologic, psychologic, and renal disease. Increased risk of hepatocellular carcinoma.
Treatment includes chelating patients with penicillamine or trientine to decrease absorption with zinc.