All issues > Volume 30(7); 1987

Case Report

J Korean Pediatr Soc. 1987;30(7):784-790. Published online July 31, 1987.

A Case of Gaucher's Disease.

Hyo Nam Cho¹, Myung Cheol Cho¹, Hyung Ro Moon¹, Je Geun Chi², Hyo Min Kim²

¹Department of Peidiatircs, College of Medicine, Seoul National University
²Department of Pathology, College of Medicine, Seoul National University

Abstract

We experienced a case of Gaucher’s disease of acute infantile type in a 12 month old male boy. The patient showed hepatosplenomegaly with anemia and thrombocytopenia, developmental delay and frequent infection. There were characteristic Gaucher’s cells in bone marrow aspiration and biopsy of liver, spleen, & lymph node. Splenectomy was done at 25 month old. He expired 3 days after splenectomy. Autopsy was done. A brief review of literature was made.

Keywords :Gaucher’s disease ; Hepatosplenomegaly ; Anemia ; Thrombocytopenia ; Splenectomy ; Autopsy.