A 16-year-old Caucasian female presents with Parkinson-like symptoms. Serum analysis shows increased levels of free copper and elevated liver enzymes. What test would prove most helpful in diagnosing the patient’s underlying disease?
1.Serum detection of anti-myelin antibodies
2.Slit lamp examination
3.Vitamin B12 test
In Wilson disease, impaired copper trafficking in hepatocytes leads to the eventual release of free copper into circulation. This copper may become deposited in the cornea, therefore a slit lamp examination would be useful in finding this manifestation (Kayser-Fleischer rings).
Treatment for Wilson disease may involve copper chelating agents such as penicillamine and trientine. Furthermore, administration of zinc is also helpful since it antagonizes copper absorption in the gastrointestinal tract.
Illustration A is an example of a Kayser-Fleischer ring resulting from corneal deposits of copper.
Illustration B depicts the various organ systems affected in Wilson disease.