Background: The natural history of focal splenic lesions in paediatric Gaucher disease (GD) is unknown and these lesions are thought to persist despite enzyme replacement therapy (ERT).
Objective: To assess the prevalence, evolution and resolution of splenic nodules in a cohort of paediatric Gaucher patients treated with ERT.
Materials and methods: The US findings in 37 children with GD were retrospectively reviewed. A total of 28 children underwent serial abdominal US examinations as part of their initial assessment and during routine follow-up. All patients received ERT.
Results: Six children (21%) had splenic nodules on US examination, either at presentation or on follow-up examination. In all six patients, the nodules had resolved on follow-up imaging, with resolution taking 17 months to 4 years 8 months. Two sets of siblings developed nodules that resolved over a similar time period.
Conclusion: Disappearance of focal splenic lesions in children with GD during follow-up has not been previously reported. The development of new focal splenic lesions in children with GD whilst on ERT has not been previously documented.