Gaucher disease in children: radiology of non-central nervous system manifestations.
The radiological findings in paediatric Gaucher disease (GD) are reviewed and future challenges for radiology are discussed. This overview is based on a literature review and our experience of children with GD in one of two national institutions for paediatric GD in the UK. GD is known to progress more rapidly in childhood. Current imaging is mainly suitable for ascertaining the complications of GD. The UK recommendations for routine radiological surveillance are discussed. With enzyme replacement therapy (ERT), which dramatically modifies the course of the disorder, the challenge for radiology in the future is likely to be assessing treatment efficacy rather than the detection of disease complications. Disease manifestations are likely to change in those on ERT and the most notable recent alteration in the disease profile in childhood is the virtual disappearance of the acute bone crisis in this population.
McHugh
K
K
Department of Radiology, Great Ormond Street Hospital for Children NHS Trust, London, UK. kmchugh@gosh.nhs.uk
Olsen  E
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Vellodi
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D015519:Bone Density; D001847:Bone Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging; D001855:Bone Marrow Diseases / Q000175:diagnosis; D002648:Child; D005776:Gaucher Disease / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D008107:Liver Diseases / Q000175:diagnosis; D008171:Lung Diseases / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging / Q000379:methods; D013158:Splenic Diseases / Q000175:diagnosis; D014057:Tomography, X-Ray Computed / Q000379:methods