关键词: 戈谢病, GBA基因, 遗传代谢病, 肝脾肿大, 儿童

Abstract: ObjectiveTo analyze the clinical characteristics and genetic features of Gaucher disease that is rare clinically.MethodsThe related clinical data and the results of whole exons gene testing of a 10-month patient with anemia in our hospital were retrospectively analyzed.ResultsThe patient was female，who presented with anemia，hepatosplenomegaly，laryngomalacia and growth and development retardation.It was found through testing that there were two heterozygous mutation in glucocererosidase(GBA) gene:c.588+1G>A(splicing) and c.1448T>C(p.L483P)，which came from her parents.ConclusionGaucher disease type Ⅱ is an acute neurological Gaucher disease with the onset at infancy，which is a rare type.The disease is usually presented as anemia，hepatosplenomegaly，development regression，and growth and development arrest.It is often complicated with acute nervous damage，and its clinical features and genetic analysis are of great significance in confirming the diagnosis.

Key words:

Gaucher disease, GBA gene, Inherited metabolic disease, Hepatosplenomegaly, Children