Abstract
BACKGROUND: Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase. Intravenously administered enzyme replacement therapy is the first-line therapy for Gaucher disease type 1 and substrate reduction therapy represents an alternative oral treatment. Here is a rare case report of Gaucher disease in South China. CASE PRESENTATION: Our patient was a 15-year-old Han Chinese boy presenting with fever, edema, and gradually increasing abdominal girth. A physical examination revealed obvious hypoevolutism and hepatomegaly, and laboratory tests and imaging examinations showed severe pulmonary interstitial fibrosis, infection, and moderate anemia. A final diagnosis of Gaucher disease was confirmed after examining the splenic pathological section derived from a splenectomy performed 6 years ago. His recovery improved after receiving anti-infection, diuresis, blood transfusion, and hepatoprotection and so on. However, enzyme replacement therapy was not adopted by our patient because his family could not afford it. CONCLUSION: A rare case of Gaucher disease is reported here to emphasize the importance of early recognition by clinical manifestation and histological findings. Gaucher disease should be considered in the differential diagnosis of children with unexplained symptoms of multiple systems.