Objective
To investigate the clinical characteristics and diagnosis of Gaucher disease.

Methods
The clinical features,bone marrow aspiration and gene mutation types of the infant with Gaucher disease Ⅱ were analyzed.

Results
The main clinical manifestations of the infant included hepatosplenomegaly, opisthotonos and mental and motion development retardation. Gaucher's cells could be seen in the bone marrow aspirates. GBA mutations were c.1448T>C（p.Leu483Pro） which was confirmed by glucocerebrosidase gene analysis.

Conclusion
Main features of Gaucher disease Ⅱ are hepatosplenomegaly with nerve system involvement. Glucocerebrosidase activity and gene analysis are important to the diagnosis of Gaucher disease.