الفهرس 
AcknowledgmentOnly 14 pages are availabe for public view
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Abstract
Gaucher’s disease (GD), the most common lysosomal storage disorder, is caused by deficiency of the enzyme β-glucocerebrosidase. Accumulation of glucocerebroside in the liver, spleen, and bone marrow results in the clinical manifestations of hepatosplenomegaly, anemia, thrombocytopenia, bone pain, and skeletal disability
In non neuropathic GD, skeletal manifestations usually produce the greatest morbidity and long-term disability, causing serious complications, such as osteonecrosis and pathologic fractures, bone infarction and AVN.
MRI is the method of choice to evaluate the skeleton in Gaucher’s disease in adults, due to its high sensitivity for detecting both focal and diffuse lesions, such as acute bone infarction, trauma, avascular necrosis, infection and infiltration of bone marrow by Gaucher’s cells.
The most commonly used semi-quantitative method is the bone marrow burden (BMB) score.
We aimed in this study to To reveal the role of MRI in evaluation of bone affection in Gaucher ’s disease All the patients were scanned by mri without intravenous administration of the paramagnetic contrast medium and abdominal ultrasound. The study population comprised 20 patients (10 men and 10 women). Mean age (mean ± SD) was 15,25± 10,16 years (range1–35). with a mean age of years (range, 1–35 years).
Bone complications were seen in 6 patients, Total BMB score ranged from 2 to 16 (mean, 9.45±4,72), BMB spine score ranged from 2 to 8(mean, 5.25±2,023), and-BMB femur score ranged from 0 to 8 (mean, 4.40±2,91).
Bone marrow infiltration was the most prevalent anomaly found in MRI, followed by irreversible bone changes.
Regarding to spleen variability in the size of the spleen among patients were observed and patients with huge spleenomegally were the most patients that had high BMB score and irreversible bone complications.
Only one patient his spleen was surgically removed and also had high BMB score and irreversible bone complications (Rt hip replacement). We found that the splenic volume had strong correlation with the total BMB score Regarding to liver, only one patient had normal liver size and the rest had different degree of hepatomegally only one patient had liver transplantation and another one had liver cirrhosis and ascites and one had hepatitc c virus. Regarding to motor activity and quilty of life of the patients appeared good and stable and not correlate with total BNB score or with liver and spleen size.
Conclusion
The mainstay of skeletal imaging in GD is MRI. as BMB scoring system is extremely sensitive to marrow infiltration with Gaucher cells in very early stages even in asymptomatic patients as well as to the associated complications including bone infarction, infection and fracture.
Our study demonstrated strong correlation between the BMB score, liver and splenic volume, corresponding to more extensive bone disease in individuals with massive splenomegaly and spleenoctomized patient was the most affected by severe bone complications and showed higher femoral and lumbar BMB score.