Gaucher Disease

An account by a mother on the web site of The Gauchers Association:

M seemed much like the others, for sometime at least.

Then ocular motor apraxia was diagnosed as a result of M's unusual eye movements. We noticed them when she was nine months. I was not too worried, it did not seem like a big deal, interesting we were told.

And then she started to choke which was very frightening the first time. Throwing her over my knee and pummelling her back became part of the meal time routine.

... an urgent appointment was made to see a paediatrician ... Having thoroughly examined M, he told us her liver and spleen were greatly enlarged and she would need further investigations.

One of the doctors kept remarking how interesting her unusual motor skills were. We had also noticed she seemed stiffer in her upper body than other babies her age.

A bone marrow biopsy demonstrated Gaucher disease, which was classified as type 3.

Click here to see the result in SimulConsult Diagnostic Decision Support with all the findings combined together. 

Even with only the first two findings, Gaucher Disease type 3 is listed as the most likely diagnosis, but with the additional findings no other diagnosis was given a significant probability.

Registration is required to click into the software because access to the software is restricted for legal reasons to medical professionals and students.

If you know of interesting cases in the news, in journals or on open Web sites of hospitals or foundations, please contact us and include enough information for us to find the material. The differential diagnosis will change over time as people mull over the case and submit new information to the database about findings in the relevant diseases.