Wilson disease

An 17 August 2009 New York Times article describes a 16 year old girl who became ill while traveling :

About a week into the trip, she became ill, with what appeared to be a stomach virus or food poisoning. A clinic checked her, judged the illness minor and let her go.

But the next day, her skin began turning yellow, and she was taken to a hospital in northern Israel and then transferred to Hadassah Hebrew University Medical Center in Jerusalem. After that, she went into free fall. By the next day, Wednesday, July 15, her liver, kidneys and lungs were failing, and there were signs of damage to her heart. She was put on a respirator.

“She was basically dying,” said her mother, Bonnie Ullner. At first, doctors did not know why.

Using just the finding of jaundice at her age, click here to see the differential diagnosis among genetic, neurological and metabolic syndromes.  The software highlights Wilson disease prominently, and because of the treatable nature of Wilson disease, highlights relevant lab tests as the most useful lab tests to confirm the diagnosis.

Once the liver failure was recognized and the liver transplant team contacted, they figured out that Wilson disease was the likely diagnosis.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.