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.
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.
Authors: Erik-Jan P Vlieger; Mario Maas; Erik M Akkerman; Carla E M Hollak; Gerard J Den Heeten Journal: J Comput Assist Tomogr Date: 2002 Sep-Oct Impact factor: 1.826
Authors: Aricha Schoonhoven; Bernard Rudensky; Debbie Elstein; Ari Zimran; Carla E M Hollak; Johanna E Groener; Johannes M F G Aerts Journal: Clin Chim Acta Date: 2007-03-06 Impact factor: 3.786
Authors: Stephan Vom Dahl; Ludger Poll; Maja Di Rocco; Giovanni Ciana; Carmencita Denes; Giuliano Mariani; Mario Maas Journal: Curr Med Res Opin Date: 2006-06 Impact factor: 2.580
Authors: Johannes M F G Aerts; Wouter W Kallemeijn; Wouter Wegdam; Maria Joao Ferraz; Marielle J van Breemen; Nick Dekker; Gertjan Kramer; Ben J Poorthuis; Johanna E M Groener; Josanne Cox-Brinkman; Saskia M Rombach; Carla E M Hollak; Gabor E Linthorst; Martin D Witte; Henrik Gold; Gijs A van der Marel; Herman S Overkleeft; Rolf G Boot Journal: J Inherit Metab Dis Date: 2011-03-29 Impact factor: 4.982
Authors: M Maas; T Hangartner; G Mariani; K McHugh; S Moore; G A Grabowski; P Kaplan; A Vellodi; J Yee; L Steinbach Journal: Skeletal Radiol Date: 2008-03 Impact factor: 2.199
Authors: Alexander Tschischka; Christoph Schleich; Johannes Boos; Markus Eichner; Jörg Schaper; Joel Aissa; Gerald Antoch; Dirk Klee Journal: Pediatr Radiol Date: 2018-04-13