부산대학교 도서관

Gaucher disease is an autosomal recessive, lysosomal storage disease caused by the deficiency of glucosylceramidase. Deficiency of this enzyme results in accumulation of glucoceramide in the macrophage and leads to hepatosplenomegaly, pancytopenia, bone damage and sometimes can be fatal. It is usually diagnosed in the first or second decade of life with the appearance of bone pain, splenomegaly and thrombocytopenia. There are several reports of Korean pediatric patient’s case with Gaucher disease instead ofrare adult patient. We report the case of a-40-years old man diagnosed Gaucher disease and successfully improved with the enzyme replacement therapy. A-40-years old man visited hospital with leukopenia and thrombocytopenia. On abdominal CT scan, his spleen was huge and mild hepatomegaly was shown. Initial laboratory test was perfomed including enzyme test, angiotensin-converting enzyme level was high. On bone marrow aspiration examination, there were no hematologic malignancies, just only few gaucher cellswith coarse cytoplasm and eccentric nucleus are found. Also, some collections of large cells with fibrillary cytoplasm were shown on bone marrow biopsy specimen, that suggests Gaucher disease. And he was performed hip MRI because of hip pain, there were marrow edema involving right SI joint. The patient received the enzyme replacement therapy with active enzyme using Cerezyme(imiglucerase), a recombinant form of glucosylceramidase. On enzyme replacement therapy, angiotensin-converting enzyme level was normalized, and spleen size was much decreased. His hip pain was improved with no other abnormal signal intensity on hip MRI. Gaucher disease should be considered in the differential diagnosis of adult patients with unexplained splenomegaly and bicytopenia. The early diagnosis of Gaucher disease would lead to safe and effective treatment with enzyme replacement, which can decrease morbidity.