Minutiae

During the first two years of medical school, we are taught volumes about disease, pathogenesis, presentation, and a little about treatment. Often, the diseases we learn about are obscure and rare, but illustrative of a particular physiological principle. There are certain vanishingly rare metabolic diseases which every student learns about, but will never see because only a few dozen people in the world have them. I used to groan and gripe about how these obscure diseases were worthless, that I would never see them, why should I learn about them? Well, I am now formally eating those words. Here is a list of the unusual conditions that I have seen on outpatient pediatrics, usually in the specialty clinics.

Cutis aplasia

Hypomelanosis of Ito (I diagnosed this one!)

Congenital adrenal hypoplasia (not hyper)

Diabetes insipidus (nephrogenic)

Gordon's syndrome

Congenital Central Hypoventilation Syndrome (Ondine's Curse)

Hypoplastic Left Heart Syndrome (in my NICU time)

4 umbilical hernias in 1 day (apparently they are more common here than elsewhere in the country.)

Bonus points for the readers who at least look on Wiki what these things are.

-SS