DiGeorge Syndrome

Have you ever heard of DiGeorge Syndrome?

I hadn’t until I had a pediatric patient with the diagnosis. So what is it?

According to the Mayo clinic, it’s a genetic disorder caused by the deletion of a section of chromosome 22. Patients tend to exhibit heart defects, cleft palate, weak immune systems, developmental delays, and behavioral problems.

I had the most adorable little 7 year old with DiGeorge. She didn’t have the cleft palates that is common with the disease but she did have cardiac issues. In fact, one of her ventricles was huge! She already had cardiac surgery before and it looked like she would need to have it again. Apparently she would be dealing with this for the rest of her life.

Working in radiology I come across at least one disease a day that I have never heard of. I like to look up the disease just for my own medical knowledge. Any diseases you’ve run across that you knew nothing about?

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