All issues > Volume 33(4); 1990

Original Article

J Korean Pediatr Soc. 1990;33(4):514-521. Published online April 30, 1990.

A case of Gaucher's Disease Diagnosed by beta-Glucosidase Enzyme Deficiency.

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

Received: November 3, 1989;  Accepted: November 3, 1989.

Abstract

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.

Keywords :Gaucher’s disease, /β-Glucosidase