All issues > Volume 34(8); 1991

Original Article

J Korean Pediatr Soc. 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

Received: January 23, 1991;  Accepted: March 13, 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.

Keywords :Gaucher disease;Hepatosplenomegaly;Anemia;Thrombocytopenia