GAUCHER DISEASE;

Objective: Gaucher disease is a lipid storage disease characterized by the deposition of glucocerbroside in cells of the ReticuloEndothelial cells (RET) system ,which encoded by a gene located on chromosome 1q21-q31.Gaucher disease occurs 1/50000 to1/1people in the general population. There are three clinical subtypes delineated by the absence or presence and progression of neurologicmanifestation. All 3 types of Gaucher disease are inherited as autosomal recessive traits. Case report: A 13-month -old- female infant was bornfrom relative parents referred to the 17-shahrivar hospital with tachypnea, Respiratory distress, and abdominal distension. In the physicalexamination, the patient was pale, ronchi on both lungs were heard. Respiratory distress and substernal retraction, abdominal distension due tohepatosplenomegaly, fine parallel lines in different sizes on the abdomen due to phlebotomy observed. Laboratory findings, pancytopeniareported and Bone Marrow Aspiration (BMA) Gaucher cells have been observed and abdominal sonography has been reported hugehepatosplenomegaly. For definitive diagnosis, β glucosidase activity was measured and Hydrolase acid β glucosidase activity deficiency wasimproved. The patient was treated by intravenous acid β glucosidase every other week. Conclusions: Genetic counseling is recommended forprospective parents with a family history of Gaucher disease.