27 SERIOUS DOCTORS RAREST CONDITION YOU HAVE DIAGNOSED AND HOW DID YOU COME TO THAT CONCLUSION

1. 2006….

My best/strangest diagnosis was when I was a fourth year medical student back in 2006. I was doing a rotation in general surgery. The surgeon was very serious and a Harvard grad.
One morning he tells me to go examine a patient and tell him what he has. I assumed the surgeon already knew the diagnosis. I did the full 300 point med student physical exam and spent hours with this 25 yo kid. This kid had been in the hospital multiple times with life threatening gastrointestinal bleeding and severe anemia. There were many strange things about him. He had nystagmus in his eyes and the color of his eyes was off. He described himself as an albino and his skin looked abnormally light though he had dark pigmented spots on his skin.
I got online with all of his symptoms/exam findings and basically typed them into Google. I found a page that almost described what he had but was off. It had a differential diagnosis section of other things to consider. I went down this list (probably 7 conditions) and one of them was completely spot on. It is called Hermansky Pudlak syndrome. Incidence 1 in 500k to 1 in 1 million people. I had never even learned about it in medical school.
The next morning I brought the surgeon some literature. There are some tests to confirm and it was eventually confirmed by the Mayo Clinic. Even the experienced hematologist missed it. I was the only one to get a completely outstanding evaluation for my surgery rotation.

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