Today I learned about Hermansky-Pudlak syndrome; from my perspective this case is interesting as there are platelet storage pool defects.
In the discussion in the workplace it was suggested we should be very careful not to confuse it with Chediak-Higashi syndrome. I’m not sure where the confusion would arise – Chediak Higashi syndrome has a problem with neutrophils.
But both are rather obscure conditions. I’ve never encountered either, so brushing up on both was a constructive use of a few minutes.
Labels: case study