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Familial Hemophagocytic Lymphohistiocytosis Type 3: Early Disease Onset and Unusual Manifestation in Sibling Cases

Junbin Huang,Li Jiang,Xiao-Jun Wu,Yucai Cheng,Chun Chen,H. Xue

Published 2019 in Iranian Journal of Pediatrics

ABSTRACT

Dear Editor, Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening disease characterized by a heterogeneous spectrum of various causes, which leads to uncontrollable cytokine storm, and activation of lymphocytes and macrophages (1). Munc13 4 is a crucial effecter of the exocytosis of cytotoxic granules priming cytotoxic granule fusion, and UNC13D gene mutations result in defective cellular cytotoxicity and FHL type 3 (FHL3) disease onset (2). Our case 1 was the first live-born child of a nonconsanguineous couple. The boy weighed 2.8 kg, and was admitted to our neonatal intensive care unit (NICU) on 15 June 2014, immediately after birth at full term, which was by cesarean section because of pyrexia in the mother and abnormal fetal ultrasound findings. Physical examination on NICU admission showed pyrexia, tachypnea, and decreased breath sounds on the right side, as well as hepatomegaly (4 cm below the costal margin) and splenomegaly (5 cm below the costal margin) that had been found by fetal ultrasonography at week 36 of gestation. Laboratory results were as follows: White blood cell (WBC) count 16.82 × 10/L, hemoglobin 115 g/L, platelet count 32 × 10/L, neutrophils 1.22 × 10/L, lymphocytes 12.72 × 10/L, C-reactive protein (CRP) 14.8 mg/L, procalcitonin (PCT) 0.75μg/L. A panel for immunoglobulin M (IgM) for rubella, cytomegalovirus (CMV), toxoplasma, and herpes simplex virus (HSV) was negative, as was a panel for sexually transmitted diseases. Polymerase chain reaction DNA testing for Epstein-Barr virus, CMV, and tuberculosis was negative. He was treated for bacterial infection with imipenem, erythrocyte transfusion, and intravenous immunoglobin at 1 g/kg. Over the next 5 days, his condition did not improved. Bone marrow puncture was performed and hemophagocytosis (Figure 1) was found in the bone marrow smear. Later full lab results are shown in Table 1, defective NK/CTL degranulation was detected (Figure 2). The diagnosis of HLH was eventually made and it was assumed that HLH might begin to manifest at least as early as 36 weeks’ gestation. Methylprednisolone 2 mg/kg was administered and genetic tests for FHL were carried out, owing to the extremely early onset and defective NK/CTL degranulation. His fever was under control for about a week and his complete blood count showed improvement, but his condition worsened after his parents refused further intensive chemotherapy because of the genetic test showed a heterozygous mutations of UNC13D: c.2448-13 G>A in exon26 and c.1055+1 G>A in exon12 and he died on day 27, 11 July 2014, from disease progression.

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