Thursday, October 6, 2016

1000

Wow! This is actually the last Case of the Day. I made it to 1000 cases over 9 years! I'll write a post after this just to tie things up, but this will be the last medical mystery. I never meant for Case of the Day to last forever, and it's been an incredible amount of work to get here. I'm pretty happy to say there are more cases here than most textbooks and all of them are backed by reasonable references.

This last case I actually wrote at the very beginning, nine years ago. It was sort of a prototype which I never published. There is some poetry in having it bookend this project. I will write more in a closing post, but thank you all for reading, responding, learning, and teaching me.

With respect, love, and passion,
Craig

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A 30 year old man with a history of "allergies" presents for an infertility workup because he and his wife have been unsuccessful in getting pregnant for over a year. Her workup is apparently normal. When you ask the husband, he notes that he has a chronic cough and mild shortness of breath. You wonder about cystic fibrosis and order a chest X-ray:


Challenge: What syndrome does he have?

Image shown under Fair Use.

4 comments:

Anonymous said...

kartagener's syndrome

webhillizzy said...

Primary ciliary dyskinesia!

webhillizzy said...

Actually, let me expand on that. Kartagener syndrome is likely in this patient who has ciliary dyskinesia, bronchiectasis, and dextrocardia.

Craig Chen said...

hooray!
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1000

This is Kartagener syndrome or primary ciliary dyskinesia. The CXR shows situs inversus. Primary ciliary dyskinesia, an autosomal recessive condition, leads to his chronic cough, chronic rhinitis, chronic sinusitis, and infertility. The triad of situs inversus, chronic sinusitis, and bronchiectasis represents Kartagener syndrome.

Sources: UpToDate; eradiology.bidmc.harvard.edu.