A 15-year-old Caucasian male patient found to have low serum copper, high urine copper, and low serum ceruloplasmin is placed on penicillamine for management of his genetic disorder. Which of the following is LEAST consistent with this patient’s clinical picture?
1.Kinky,easily breakable hair
2.Cirrhosis
3.Hemiballismus
4.Corneal deposits
5.Parkinson-like symptoms
Summary
The clinical picture and treatment with penicillamine are consistent with Wilson disease. Kinky, easily breakable hair is a feature of Menkes disease, another copper transport disorder associated with growth failure, seizures, and developmental delay.
The genetic mutation responsible for Wilson disease impairs copper-trafficking within hepatocytes. This leads to copper accumulation within hepatocytes since the main routes of copper export (via bile and into the bloodstream bound with ceruloplasmin) are impaired. Eventually, this excess copper accumulates and causes tissue damage. Penicillamine, a copper chelating agent, functions by removing excess loosely-bound serum copper
Illustration A depicts the multiple organ systems affected by Wilson disease.