All issues > Volume 38(3); 1995

Case Report

J Korean Pediatr Soc. 1995;38(3):428-434. Published online March 15, 1995.

Familial Erythrophagocytic Lymphohistiocytosis in Siblings

Eun Sook ES Lee¹, Ji Eun JE Choi¹, Dug Ha DH Kim¹, Hae Ran HR Lee¹, Chong Young CY Park¹

¹Department of Pediatrics, College of Medicine, Hallyn University, Seoul, Korea

Abstract

Familial erythrophagocytic lymphohistiocytosis(FEL) is an uncommon disorder characterized by multi-organ infiltration with phagocytic histiocytes and macrophages. It is a familial discorder presenting during infancy or young childhood with fever, hepartosplenomegaly, pancytopenia, bleeding diathesis, hypertriglyceridemia and neurologic manifestations. The course of the disease is extremely lethal and diagnosis of the disease during lifetime is very difficult. Exact diagnosis can only be made by autopsy. We experienced FEL cases in siblings, who had fever, hepatosplenomegly, pancytopenia, and hypertriglyceridemia. Bone marrow study showed increased histiocytes with active hemophagocytosis. They were died due to multiple organ failure, and the diagnosis was confirmed by autopsy, so we report it and review the related literatures.

Keywords :Familial Erythrophagocytic Lymphohistiocytosis, Autopsy