[Persistence of pulmonary lesions in a 6-year-old boy with type I Gaucher's disease treated by alglucerase since the age of 20 months]

Author(s): Versteegh C, Avni F, Cuvelier P, Ferster A

Affiliation(s): Service d'hematologie, hopital universitaire des enfants Reine-Fabiola, ULB, Belgique.

Publication date & source: 1998-12, Arch Pediatr., 5(12):1341-3.

Publication type: Case Reports; English Abstract

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.