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.|