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: Villanova Faculty Authorship
Language: English
Published: 2003
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