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Two cases of Gaucher disease in brother and sister.

Journal of the Korean Pediatric Society 1991;34(8):1151-1156.
Published online August 31, 1991.
Two cases of Gaucher disease in brother and sister.
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
김용주1, 정기영1, 서종진1, 이건수1, 정용헌1, 구선회2
1충남대학교 의과대학 소아과학교실
2충남대학교 의과대학 임상병리학교실
Received: 23 January 1991   • Accepted: 13 March 1991
Abstract
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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