الفهرس 
IntroductionOnly 14 pages are availabe for public view
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Abstract
Dissertation Abstract Gaucher disease with the first lysosmal storage disease with multiorgan involvement for which a specific treatment was developed making a revolution in management and survival in patients with gaucher disease. Diffusion weighted MRI on liver, spleen and spine with ADC measurements were done to all children enrolled in the study and were statistically compared between the groups, DWI MRI was also correlated with enzyme assay, blood components levels, genotyping and bone marrow density. There was significant difference in ADC values of liver, spleen and spine between cases and controls with lower values in patients with gaucher disease, also there was significant differences in ADC values of liver,spleen and spine between treated and untreasted children with lower values in untreated children. The ADC values of liver and spleen were negatively correlated with liver and splenic volumes. The ROC curve was used to predict the sensitivity,specificity and accuracy of ADC values of liver and spleen in patients with gaucher disease befor and after treatment. When a liver ADC value of 1.29X10-3mm2/s was used as a threshold value for differentiating untreated from treated patients, the best results were obtained with an accuracy of 80%, sensitivity of 90.9%, specificity of 71.4% and the area under the curve of 0.8 on the other hand the splenic ADC value of 0.83X10-3mm2/s was used as a threshold value for differentiating untreated from treated patients, the best results were obtained with an accuracy of 80%, sensitivity of 72.7.9%, specificity of 85.7.% and the area under the curve of 0.75There was positive correlation between ADC of spine and BMD.
There was insignificant correlation between ADC values of liver, spleen and bone marrow with genotyping and clinical scoring.There was significant difference in haemoglobin level, platelet count and chitotriosidase level between treated and untreated children where haemoglobin level and platelet count were higher in treated children while chitotriosidase level was lower in treated ones.
A significant negative correlation between ADC value of liver and spine and the level of serum chitotriosidase. Conclusion1- Apparent diffusion coefficient value is a new promising quantitative imaging parameter for detection of visceral infiltration in children with Gaucher disease and for assessing therapeutic response to enzyme replacement therapy. 2-Apparent diffusion coefficient value is a new promising quantitative imaging parameter for detection of bone marrow infiltration in pediatric patients with Gaucher disease and for assessing therapeutic response to enzyme replacement therapy.