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Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III

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Abstract

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 mm2/s) was significantly lower (P = 0.001) than that of vertebral bone marrow in controls (0.54 ± 0.05 × 10−3 mm2/s). The cut-off ADC value used to differentiate patients with Gaucher’s disease from controls was (0.47 × 10−3 mm2/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.

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Authors and Affiliations

  1. Department of Diagnostic Radiology, Mansoura faculty of Medicine Mansoura, Mansoura, Egypt

    Ahmed Abdel Khalek Abdel Razek

  2. Pediatric Hospital, Mansoura Faculty of Medicine, Mansoura, Egypt

    Ahmed Abdalla, Abeer Fathy & Ahmed Megahed

Authors
  1. Ahmed Abdel Khalek Abdel Razek
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  2. Ahmed Abdalla
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  3. Abeer Fathy
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  4. Ahmed Megahed
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Correspondence to Ahmed Abdel Khalek Abdel Razek.

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Razek, A.A.K.A., Abdalla, A., Fathy, A. et al. Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. Skeletal Radiol 42, 283–287 (2013). https://doi.org/10.1007/s00256-012-1464-8

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  • DOI: https://doi.org/10.1007/s00256-012-1464-8

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