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Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III
Ahmed Abdel Khalek Abdel Razek1, Ahmed Abdalla, Abeer Fathy
1Department of Diagnostic Radiology, Mansoura faculty of Medicine Mansoura, Mansoura, Egypt. arazek@mans.edu.eg
Insights
Apparent diffusion coefficient (ADC) is a valuable tool for detecting Gaucher disease bone marrow infiltration in children. Lower ADC values in Gaucher patients correlate with disease severity and specific genetic mutations.
Area of Science:
- Biomedical Imaging
- Quantitative MRI
- Pediatric Hematology
Background:
- Gaucher disease is a rare genetic disorder affecting bone marrow.
- Accurate detection of bone marrow infiltration is crucial for disease management.
- Quantitative MRI parameters can offer objective disease assessment.
Purpose of the Study:
- To evaluate the apparent diffusion coefficient (ADC) as a quantitative marker for vertebral bone marrow infiltration in pediatric Gaucher disease.
- To differentiate between Gaucher disease patients and healthy controls using ADC values.
Main Methods:
- A prospective study involving 20 children with Gaucher disease (types I and III) and 20 age-matched controls.
- Diffusion-weighted MRI of the lumbar spine was performed with varying b values.
- Apparent diffusion coefficient (ADC) values of vertebral bone marrow were measured and analyzed.
Main Results:
- Children with Gaucher disease exhibited significantly lower mean ADC values in vertebral bone marrow compared to controls (0.39 vs. 0.54 × 10⁻³ mm²/s).
- An ADC cut-off of 0.47 × 10⁻³ mm²/s achieved 95% sensitivity and 95% specificity for differentiating patients.
- Lower ADC values were associated with the L444P/L444P genotype and correlated negatively with bone marrow burden score and disease biomarkers.
Conclusions:
- Apparent diffusion coefficient (ADC) is a reliable quantitative parameter for detecting vertebral bone marrow infiltration in pediatric Gaucher disease.
- ADC values demonstrate a strong correlation with Gaucher disease genotypes and key biomarkers of disease activity.
Purpose:
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.
Material And 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).
Conclusion:
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.
