Forensic Science, Medicine and Pathology

, Volume 14, Issue 3, pp 372–376 | Cite as

Fatal unexpected death due to familial hemophagocytic lymphohistiocytosis type 3

  • Jiao MuEmail author
  • Chunting Jin
  • Zhenglian Chen
  • Jianfeng Li
  • Bin Lv
  • Hongmei DongEmail author
Case Report


Familial hemophagocytic lymphohistiocytosis is a rare autosomal recessive disorder of immune dysregulation associated with uncontrolled activation of cytotoxic T cells and macrophages. Herein, we report a case of a 14-month-old Chinese boy who presented with fever, abdominal distension and thrombopenia, and died within 3 days of admission to the hospital. Postmortem examination revealed pleuroperitoneal fluid, enlarged mesenteric lymph nodes and hepatosplenomegaly. Histopathological examination showed interstitial pneumonia, hepatonecrosis and hemophagocytosis. Immunohistochemical staining of the spleen, lymph node and liver specimens revealed numerous cytotoxic T cells (CD8+) and histiocytes (CD68+). EBER1-positive cells were observed in lymphocytes of the spleen, lymph node, liver and lungs by in situ hybridization. UNC13D mutation was identified, although the boy had no family history. The following medico-legal autopsy case is being reported for its rarity in the forensic setting. We addresses the need for genetic testing in addition to a thorough clinical history, appropriate laboratory tests, histological examination and immunohistochemical analysis for the rapid and accurate diagnosis of familial hemophagocytic lymphohistiocytosis.


Familial hemophagocytic lymphohistiocytosis Thrombopenia Histopathology UNC13D 



This study was supported by Hebei Natural Science Foundation (Grant No. H2017405021) and National Natural Science Foundation of China (Grant No. 81471821).

Author contributions

Jiao Mu, Chunting Jin and Jianfeng Li carried out the autopsy and histological study. Jiao Mu and Chunting Jin participated in the design and drafted the manuscript. Jiao Mu and Bin Lv carried out the gene detection. Jiao Mu and Zhenglian Chen carried out the immunohistochemical study. Hongmei Dong conceived the case report and revised the manuscript.


This study was supported by Hebei Natural Science Foundation (Grant No. H2017405021) and National Natural Science Foundation of China (Grant No. 81471821).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no competing interest.

Ethics approval and informed consent

This article does not contain any studies involving human participants or animals performed by the author. Informed consent was obtained from the patient’s father in the study.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of PathologyHebei North UniversityZhangjiakouPeople’s Republic of China
  2. 2.Department of Pathology, Liyuan Hospital, Tongji Medical CollegeHuazhong University of Science and TechnologyWuhanPeople’s Republic of China
  3. 3.Department of Forensic MedicineHebei North UniversityZhangjiakouPeople’s Republic of China
  4. 4.Department of Forensic MedicineTongji Medical College of Huazhong University of Science and TechnologyWuhanPeople’s Republic of China

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