부산대학교 도서관

Gaucher disease (GD) is a rare, autosomal recessive genetic disease caused by deficiency of a lysosomal enzyme (glucocerebrosidase and B-glucosidase) that leads to the accumulation of its substrate in lysosomal macrophages. GD remains rare and delayed diagnosis is common due its gradual onset. It is important to include this differential diagnosis in cases of massive splenomegaly and/or thrombocytopenia, in order to avoid potentially harmful splenectomy. This case report describes a 25 year old female patient with a 10 year medical history of anaemia and thrombocytopenia, who presented with symptoms of haemorrhagic dyscrasia, pancytopenia and massive splenomegaly. The differential diagnosis of massive splenomegaly included several conditions which were considered but ruled out. Because of a lack of resources, the patient was forwarded to a reference centre where the diagnosis of GD was made