| Two cases of Gaucher disease in brother and sister. |
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Yong Ju Kim1, Ki Young Cheong1, Jong Jin Seo1, Keon Su Rhee1, Young Hun Chung1, Seon Hoe Koo2 |
1Department of Pediatrics, College of Medicine, Chungnam National University, Chungnam, Korea
2Department of Clinical Pathology, College of Medicine, Chungnam National University, Chungnam, Korea |
| 남매에서 발생한 Gaucher병 2례 |
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김용주1, 정기영1, 서종진1, 이건수1, 정용헌1, 구선회2 |
1충남대학교 의과대학 소아과학교실
2충남대학교 의과대학 임상병리학교실 |
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Received: 23 January 1991 • Accepted: 13 March 1991 |
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| Abstract |
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We experienced two cases of Gaucher disease in brother and sister. The first case of 6 year old
female showed hepatosplenomegaly with thrombocytopenia and characteristic Gaucher cells in bone
marrow aspiration and biopsy. She is alive without complaints except abdominal distension. The
second case of 3 year ~ 7 month old male showed hepatosplenomegaly with anemia and throm-
bocytopenia. There were characteristic Gaucher cells in bone marrow aspiration and biopsy. He
expired 1 year after diagnosis. A brief review of literature was made. |
| Key Words:
Gaucher disease, Hepatosplenomegaly, Anemia, Thrombocytopenia |
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