Case 20-2003: A nine year old girl with Hepatosplenomegaly and pain in the thigh.
Hepatosplenomegaly is a common feature in many metabolic storage diseases, ranging from sphingolipidosis to mucopolysaccharidosis. A smaller number of metabolic disorders are associated with bone pain or, as it is often called, bone crisis. The combination of hepatosplenomegaly and bone pain is unique and is a feature of Gaucher's disease.
| Main Author: | Larsen, Eric. |
|---|---|
| Other Authors: | Connolly, Susan., Rosenberg, Andrew. |
| Format: | |
| Language: | English |
| Published: |
2003
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| Online Access: |
http://ezproxy.villanova.edu/login?url=https://digital.library.villanova.edu/Item/vudl:178009 |