| A case of Gaucher's Disease Diagnosed by beta-Glucosidase Enzyme Deficiency. |
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Hwan Gyn Park1, Yil Sub Lee1, Chang Hyun Yang1, Chang Ho Hong1, Sung Kyu Lee1, Kyung Soon Song2, Hyeon Joo Jeong3 |
1Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea
2Department of Clinical Pathology, Yonsei University, College of Medicine, Seoul, Korea
3Department of Pathology, Yonsei University, College of Medicine, Seoul, Korea |
| β-Glucosidase 결핍으로 확진한 Gaucher 씨 병 1 례 |
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박환규1, 이일섭1, 양창현1, 홍창호1, 이승규1, 송경순2, 정현주3 |
1연세대학교 의과대학 소아과학교실
2연세대학교 의과대학 임상병리학교실
3연세대학교 의과대학 해부병리학교실 |
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Received: 3 November 1989 • Accepted: 3 November 1989 |
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| Abstract |
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We experienced a case of adult type Gaucher’s disease in a 2 year 9 month old female.
The patient had hepatosplenomegaly with anemia and characteristic Gaucher cells in bone marrow
aspiration and biopsy of liver and spleen.
Diagnosis was confirmed by demonstration of β-glucosidase enzyme deficiency in circulating
leukocytes.
Partial splenectomy was followed by improvement of anemia and thrombocytopenia. A brief
review of literature was done. |
| Key Words:
Gaucher’s disease, /β-Glucosidase |
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