Abstract: 　Objectives　To investigate the clinical characteristics and diagnosis of Gaucher disease. Methods　The clinical features, enzyme activities and genetypes of an infant with Gaucher disease II were analyzed. Results　The main clinical manifestations of the infant included hepatosplenomegaly, ocular dyscinesia and mental retardation. Gaucher′s cells could be seen in the bone marrow aspirates. Glucocerebrosidase activity was low (0.3 nmol/g/min). Serum chitotriosidase activity was high (87317 nmol/L/min). GBA mutations were M85T (c.371T>C) and R120W (c.475C>T). Conlusions　Main features of Gaucher disease II are hepatosplenomegaly with nerve system injury. Glucocerebrosidase activity and gene analysis are important for the diagnosis of Gaucher disease.#br#Key words:　Gaucher disease;　glucocerebrosidase;　Gaucher cell#br#