Diffusion tensor imaging of vertebral bone marrow in children with Gaucher's disease type I and III: Pre- and post-therapy

Purpose: To assess diffusion tensor imaging (DTI) of the vertebral bone marrow (BM) in children with Gaucher's disease (GD) types I and III before and after therapy. Methods: Prospective study was conducted upon 25 children with GD type I (n = 17) and III (n = 8) and 13 age and sex-matched controls underwent DTI of vertebral BM. Mean diffusivity (MD) and fractional anisotropy (FA) of vertebral BM was calculated and correlated with genotyping, chitotriosidase, hemoglobin (HB) and, platelet count. Results: There was a statistically significant difference in MD and FA of BM between patients and controls (P = 0.001 and 0.02). The area under the curve (AUC) of MD and FA used to differentiate untreated patients from controls was 0.902 and 0.68 with sensitivity, specificity, and, accuracy 92%, 84.6%, and, 89.5% respectively. There was a significant difference in MD and FA of BM between untreated and treated patients (P = 0.001 and 0.02). AUC of MD and FA used to differentiate untreated from treated patients was 0.93 and 0.649 with sensitivity, specificity, and accuracy of 92%, 80%, and 86% respectively. There was a significant difference in MD and FA (P = 0.03, 0.001 respectively) of BM in GD with homozygous L444P mutation (n = 9) and other mutations (n = 14). Chiotriptase, HB and platelet count of patients was correlated with MD (r = −0.36, 0.42, −0.41) and FA (r = −0.47, −0.37, −0.46) respectively. Conclusion: DTI of vertebral BM can help in diagnosis and monitoring patients with GD after therapy and correlated with genotyping, and hematological biomarkers of GD.