ABSTRACT
Objective To discuss the imaging features of skeletal changes in children with Gaucher disease on X-ray and MRI images.Methods One hundred and nine children with Gaucher disease were enrolled in this study.They all received routine X-ray for spine with anterior-posterior(A-P)and lateral view and bilateral femurs with A-P view.Among them.18 patients received X-ray for pelvic with A-P view.14 patients received X-ray for left wrist with A-P view.and 14 patients received MRI scan for femur.The MRI scan included T1-weighted imaging,T2-weighted imaging and fat-suppressed T2-weighted imaging with short tau inversion recovery(STIR)sequence.The imaging features of the X-ray and MRI images were analyzed retrospectively.Results The most common feature is osteoporosis,which presented in 91 cases (83.5%).Besides this,decreased density of metaphysis occurred in 86 cases(78.9%).erlenmeyer flask deformity of metaphysis occurred in 89 patients(81.7%),thinner cortex occurred in 69 cases(63.3%),osteolytic destruction occurred in 31 cases(28.4%).pathological fractures occurred in 26 cases (23.9%),osteosclerosis occurred in 12 cases(11.0%).cystic degeneration of bone occurred in 16 cases (14.7%),and dislocation of the hip occurred in 4 cases.All 14 patients received MRI presented abnormal signals.Among them,4 patients presented low signal intensity both on T1-weighted and T2-weighted images in bone marrow;the other ten presented high signal intensity mixed in low signal intensity areas on T2-weighted and fat-suppressed T2-weighted images.Conclusions The imaging features of skeletal changes in children with Gaucher disease are of some characteristics,which could provide useful information for the clinical treatment.