ABSTRACT
Gaucher disease is a multisystemic lipidosis characterized by hematologic problems, organomegally, skeletal involvement with or without neurological affection. The aim of the study is to identify the multisystemic involvements in children with Gaucher disease and to evaluate the effect of enzyme replacement therapy [ERT] on such patients. This study included 40 patients with Gaucher disease attending the Hematology Unit, Pediatric University Hospital during the period from January to December 2012. All cases were subjected to full history taking, thorough clinical examination, complete blood count, abdominal ultrasonography, radiological examination of the chest, distal end of femur and proximal end of tibia, EEC, echocardiography, Doppler echocardiography, tissue Doppler echocardiography and High Resolution C.T chest [HRCT]. Results: Significant differences were detected between cases and controls in weight, height and skull circumference [p value < 0,001]. Patients during ERT showed a significant decrease in frequency of epistaxis and blood transfusion than those before ERT [p value < 0.05]. Patients during ERT showed a significant increase in mean Hb level and platelet count than those before ERT [p value < 0.05]. There were no significant differences between the two groups of patients regarding the radiological bone changes and neurological aspects of Gaucher disease. Conclusion: Gaucher disease must be suspected in any child with organomegally, bone problems, bleeding tendency with or without neurological affection. ERT is effective in the management of hematological and visceral aspects of Gaucher disease. ERT has no role in the neurological aspect of Gaucher disease