2.2b. Organomegaly


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When you have an isolated hepatosplenomegaly in a child who otherwise looks fine, you have to think of type 1 Gaucher Disease and Niemann Pick B. If you have organomegaly that is associated with coarse facial features you have to think of other lysosomal storage diseases that are usually not just limited to the coarseness of the face and the organomegaly - they may have other features like neurological involvement, and neurological problems which can range from just seizures to developmental delay to regression. You have to think about the MPS except MPS VI which usually is not associated with any neurological problems, and then glycoprotein storage disease, GM1 and other diseases.

 

 

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