Replacement Therapy for Gaucher Disease during Pregnancy: A Case Report

BACKGROUND: Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. In this study, a case of enzyme-treated woman during her pregnancy was reported. CASE PRESENTATION: A 27-year old woman with type I Gaucher disease was managed for pregnancy until delivery. She underwent elective splenectomy at age 26 years and was treated with 19-38 units/kg of imiglucerase. A conservative approach with close monitoring of both mother and baby was planned. RESULTS: In the 39th week of pregnancy, a healthy male baby of 3180 g was delivered via cesarean section. CONCLUSION: Apart from mild hematological complications, the pregnancy, the delivery and the puerperium were uneventful. In this case report, the issue of therapy and risk assessment in pregnancy in patients with type I Gaucher disease was discussed.