Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III.
OBJECTIVE
To assess apparent diffusion coefficient (ADC) as a quantitative parameter for detection of vertebral bone marrow infiltration in children with Gaucher's disease type I and III.


METHODS
Prospective study was conducted on 20 infants and children (14 M, 6 F; aged 31-61 months; mean age 46 months) with Gaucher's disease type I (n = 13) and III (n = 7), and 20 age and sex matched controls. They underwent routine and diffusion-weighted MR imaging of the lumbar spine using echo planar imaging with b value of 0, 500 and 1000 sec/mm2. The ADC value of the lumbar vertebral bone marrow was compared in different phenotypes and genotypes; and correlated with bone marrow burden score (BMB), chitotriosidase level, hemoglobin and platelet count.


RESULTS
The mean ADC value of marrow infiltration in patients with Gaucher's disease (0.39 ± 0.06 × 10(-3) mm(2)/s) was significantly lower (P = 0.001) than that of vertebral bone marrow in controls (0.54 ± 0.05 × 10(-3) mm(2)/s). The cut-off ADC value used to differentiate patients with Gaucher's disease from controls was (0.47 × 10(-3) mm(2)/s); with sensitivity of 95 %; specificity of 95 % and area under the curve of 0.986. The L444P/L444P mutation had significantly lower ADC value compared to other mutations (P = 0.001). The mean ADC value of the bone marrow negatively correlated with BMB (r = -0.831; P = 0.001), and biomarkers of disease activity including chitotriosidase (r = -0.542; P = 0.014), hemoglobin (r = -0.727; P = 0.001) and platelets (r = -0.698; P = 0.001).


CONCLUSIONS
We concluded that there is significant difference in the ADC value of vertebral bone marrow between children with Gaucher's disease and controls, and the ADC value correlated well with genotyping and some biomarkers of disease activity.
Department of Diagnostic Radiology, Mansoura faculty of Medicine Mansoura, Mansoura, Egypt. arazek@mans.edu.eg
Ahmed Abdel Khalek Abdel
AA
Razek
Ahmed
A
Abdalla
Abeer
A
Fathy
Ahmed
A
Megahed
D000465:Algorithms; D001853:Bone Marrow / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D038524:Diffusion Magnetic Resonance Imaging / Q000379:methods*; D005260:Female; D005776:Gaucher Disease / Q000473:pathology*; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D007090:Image Interpretation, Computer-Assisted / Q000379:methods*; D008159:Lumbar Vertebrae / Q000473:pathology*; D008297:Male; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity