Pulmonary involvement in siblings with Gaucher disease type III.

Introduction: Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD.

Case Report: We reported sisters with pulmonary involvement in GD type III.