Splenic nodules in paediatric Gaucher disease treated by enzyme replacement therapy

    loading  Checking for direct PDF access through Ovid



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).


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.


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.


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.

Related Topics

    loading  Loading Related Articles