Background: Gaucher's disease is a serious disorder which becomes curable by bone marrow transplantation. Enzyme replacement therapy has permitted improvement in quality of life and has been shown to decrease the disease's progression.
Observation: A 6-year-old boy was treated by alglucerase (Ceredase) since the age of 20 months. He presented at that time a failure to thrive, pancytopenia, hepatosplenomegaly and bone involvement. The lung X-rays revealed a diffuse reticulonodular pattern. After 4 years and 5 months, there was an improvement of growth and hepatosplenomegaly, associated with hematological parameters and bone changes normalization. However, an important interstitial syndrome without clinical signs persisted.
Conclusion: In our patient it is impossible to note the difference between pulmonary disease from fibrotic origin and pulmonary involvement by Gaucher's cells accumulation.