All issues > Volume 37(9); 1994

Case Report

J Korean Pediatr Soc. 1994;37(9):1279-1285. Published online September 15, 1994.

Familial Hemophagocytic Lymphohistiocytosis

Dong Un DU Kim¹, Dae Kyun DK Koh¹, Yeon Dong YD Lee¹, Jae Kyun JK Hur¹, Kyoo Hong KH Cho¹, Suk Jin SJ Kang²

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea
²Department of Clinical Pathology, Catholic University Medical College, Seoul, Korea

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare disease characterized by fever, hepatosplenomegaly, cytopenia and non-malignant lymphohistiocytic infiltration with hemophagocytosis in reticuloendothelial organs. We experienced three cases of FHL in identical male twins and their younger brother who presented with fever and severe hepatosplenomegaly. Cytompenia, elevated serum transaminase and low serum albumin levels, hypertriglyceridemia were common laboratory findings of them. One of them showed markedly decreased phytohemagglutinin induced lymphocyte proliferation and reversed CD4/CD8 ratio (0.52) in flowcytometric lymphocyte subset analysis. Aspirate of bone marrow revealed typical features consistent with FHL in two of them. In spite of recent therapeutic approaches, none of them survived.

Keywords :Familial Hemophagocytic Lymphohistiocytosis