Case of the Week: Hubrisiocytosis X

hubris : the pride associated with arrogance; pride considered as sin; 1884, from Gk. hybris "wanton violence, insolence, outrage," originally "presumption toward the gods," of unknown origin.

In medicine, there is a tradition known as "Grand Rounds."  Ordinarily, the term rounds is used to denote the practice of either seeing or talking about a series of patients.  Occasionally, however, there is a more formal process.  In Grand Rounds, a bunch of doctors get together and talk about a case in great detail, usually with someone presenting a review of the pertinent scientific and clinical literature that pertains to the case. 

The first one I attended occurred shortly after the start of my third year in medical school.  At that time, the third year was the first clinical year.  The first two years were spent almost entirely in the classroom. 

At the end of the first week, I went to Grand Rounds.  All medical students must attend all educational functions.  A pediatric oncology fellow started talking about the case.  A young girl, I think about eight years old, had come to the hospital.  She had unexplained swelling in her face, on the right side, just below the eye.  This was found to be due to histiocytosis X. 

Normally, the human skull has holes in it that are only where they are supposed to be.  Each hole serves a particular purpose.  Every once in a while, a skull gets lots of holes in it that are not supposed to be there.  This is very bad. 

The oncology fellow dutifully reported upon the patient presentation, radiological findings, and treatment.  Then he reviewed the literature, describing the basic science, such as it was known at the time.  All according to Proper Form and Medical Protocol. 

Finally, the poor guy finished, and the Attending went to the podium.  She began by saying something like this:

It certainly is very fortunate that this young lady came to the University of Michigan, where she could get the correct diagnosis, and treatment could be instituted promptly...

Yadda, yadda, yadda.  The University of Michigan.  Yadda yadda yadda.  The way she said "the University of Michigan" made it sound like she was talking about the Queen of England. 

Let me tell you how the diagnosis was made.  It had nothing to do with any University greatness.

On the very first day of my third year, I went up to the hospital unit where I was supposed to be.  It was a general pediatric unit at Mott Children's Hospital.  There weren't very many patients, so the senior resident sent me down to the walk-in clinic.  Believe me, I had no idea what I was doing. 

After a bit, a woman came in, with her daughter.  Neither spoke English very well.  The mother told me that her daughter had developed this swelling, a couple of months ago.  No pain, no fever, no constitutional symptoms, no history of trauma.  Just swelling.  I learned that she had been taken to a different hospital, and had been admitted.  They had done a lot of tests.  No, the mother did not know which tests had been done, or anything about the results.  The other hospital had a good reputation, so it was not at all clear why they had not been able to figure it out.  When they discharged the girl, the mother asked what she should do.  Someone told her that maybe she should take the girl to the University of Michigan hospital.  So she drove right over, and wandered around until she found the pediatric clinic. 

The attending physician was busy, so I saw the girl first.  I remembered from class that sometimes a sinus infection, if it goes on long enough, will eat through the bone in the face, causing swelling like that.  Usually, the patient has a lot of other symptoms, but sometimes not.  The best way to make the diagnosis, at that time, was with sinus X-rays.  Now, we tend to use CT scans; back then, time in a CT scanner was a precious commodity, not easily obtained.

I went and told the attending that I wanted to order sinus films.  She thought about it for a moment, then told me:

Normally, I wouldn't think that was necessary.  But since she's already been worked up, and they didn't find anything, let's go ahead. 

I dutifully filled out the requisition, and called a transporter.  Someone came and took the girl away.  Later in the day, the girl hadn't come back, and it was time for me to go back up to the hospital floor.  I was mildly curious about the outcome, but did not think about it too much. 

What had happened was that the girl had gotten the X-ray, and the technician saw that the girl's skull was full of holes that weren't supposed to be there.  The radiologist looked at the films and called the appropriate specialist, who admitted the girl.  No one bothered to tell the medical student who had ordered the X-rays. 

Of course, the patient I had seen in the walk-in clinic was the one who turned out to have histiocytosis X, the one presented at Grand Rounds, the one who was Very Fortunate to have come the the University of Michigan so she could get the correct diagnosis.  At Grand Rounds, nobody told the real story: someone decided to order the correct diagnostic test, entirely for the wrong reason: an extremely green third-year student who really didn't know what he was doing.

If anybody deserves any special credit in this case, it would be the patient's mother.  Her mother knew there was something dreadfully wrong, and wasn't going to stop until somebody figured it out.  She didn't know what to do, but she was going to keep trying no matter what.  I am very confident that if I had not ordered that X-ray, the mother would have kept going from hospital to hospital until somebody finally did the right thing.

The University of Michigan.  Yadda yadda yadda.