Familial Hemophagocytic Lymphohistiocytosis (FHL), Report of two Unique Cases

Gouranga Charan Pattnaik,Shubhankar Mishra,Sunil Kumar Agarwalla,Sushree Smita Behura

doi:10.3126/jnps.v35i3.12260

Abstract

Familial hemophagocytic lymphohistiocytosis (FHLH) is a rare genetic disorder associated with early onset in life with overwhelming activation of T lymphocytes and macrophages invariably leading to death. We present two cases of FHLH admitted to our hospital at different points of time. First child presented with multiple episodes of GTCS and high grade fever. There was a history of sibling death before. He was having hepatosplenomegaly with leucopenia, hyper-triglyceridemia, hyper-ferritinemia and bone marrow revealed abundant hemophagocytes in smear. Second case was a 6 month male with complaint of (Generalised Tonic Clonic Seizure (GTCS) with past history of repeated attacks of acute Respiratory Infection and neuroinfection. Previous sibling died in similar presentation. He was having hepatosplenomegaly, leucopenia, hyper triglyceridemia, hyper ferritinemia with abundant hemophagocytes in bone marrow smear. Both the cases were diagnosed as FHLH and treated according to protocol.Nepal Paediatr Soc 2015;35(3):283-286

Highlights

Familial hemophagocy c lymphohis ocytosis (FHLH) is the single form of inherited hemophagocy c syndromes
The disease is classified into six different types based on gene c linkage analysis and chromosomal localiza on[1]
In WHO classifica on FHLH is included in class II of his ocytosis[2]

Summary

Introduction

Familial hemophagocy c lymphohis ocytosis (FHLH) is the single form of inherited hemophagocy c syndromes. Bone marrow smear showed abundant hemophagocytes (Fig-1) He was treated with IV an bio cs and IV phenytoin. A six month male child was admi ed with history of irregular fever for three months and repeated GTCS for three days. Hb was 4.2 gm%, TLC-2800/mm[3] (N 8L 87 E0 M4 B1) absolute neutrophil count,[224], TPC-1.2 Lac/ mm[3], malaria an gen kit: (-ve), Mantoux test was nega ve, peripheral smear study revealed microcy c hypochromic anemia, bone marrow Smear suggested presence of abundant hemophagocytes (Fig 2). Later on day 3 the child was having tonic posturing with irregular respira on (Fig 3).

Discussion

Conclusion