You have a child with anemia, thrombocytopenia and growth retardation. You may do an exam, the hepatosplenomegaly is not that big, it’s really mild you cannot palpate it. Most pediatricians will think of the most common things such as viral infection. Is this a malignancy? It can take a while for a biopsy of the spleen or of the liver to be performed to get to the bottom of why this child is displaying all of these features, and that will delay the diagnosis. Many children with Gaucher Disease have been diagnosed because they were sent to the hematologist for a cancer that was unspecified and after they had a bone marrow biopsy that showed the Gaucher cells, so that macrophage laden with the sphingolipids, and the diagnosis of Gaucher Disease was done. So that puts the diagnosis months and months after the child starts exhibiting these symptoms.
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