SimulConsult Cases Blog: Huntington Disease in NYT Diagnosis Feature

Cases Blog: Huntington Disease in NYT Diagnosis Feature

A 29 May 2005 article "Diagnosis: Facial tic, weight loss, delusion" in the New York Times Magazine's "Diagnosis" feature describes a 38 year old man admitted to a hospital via the emergency room:

He was lanky, with broad shoulders, but his clothes were dirty and hug from his bony frame as if he'd lost a lot of weight since they were new.

The doctors concluded that he was paranoid:

He had enemies, he explained to those doctors - enemies who had broken into his home and injected him with poison.... "I am the richest man in the world. I need to call my lawyer." As he spoke, he gestured wildly, and his face distorted at times into a strange, involuntary smile.

Click hyperlinked findings in the description above to see differential diagnoses for the individual finding using SimulConsult Neurological Syndromes. Click here to see the result in the software with all the findings combined together.

The diagnosis of Huntington disease comes out as a close #2 based on the findings hyperlinked above. Adding the family history (affected mother and brother and two unaffected sisters) and interpreting "gesturing wildly" as choreoathetosis makes the diagnosis of Huntington disease an overwhelming favorite as shown here.

Individual registration (free) or institutional access (free) 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.