Fatal unexpected death due to X-linked lymphoproliferative disease. (September 2021)

• Record Type: Journal Article
• Authors: Mu, Jiao; Xue, Dazhong; Li, Meiyu; Wang, Tingting; Ma, Qian; Dong, Hongmei
• Is Part Of: Legal medicine. Volume 52(2021)
• Publication Date: 2021-09
• Subjects: Forensic pathology -- X-linked lymphoproliferative disease -- Fulminant infectious mononucleosis -- Hemophagocytosis -- Epstein-Barr virus infection; XLP X-linked lymphoproliferative disease -- EBV Epstein‑Barr virus -- HSC hematopoietic stem cell -- FIM fulminant infectious mononucleosis -- HPS hemophagocytic syndrome -- WBC white blood cell -- Hgb hemoglobin -- MPO myeloperoxidase -- SLAM signaling lymphocyte activation molecule -- SAP signaling lymphocyte activation molecule (SLAM)-associated protein; Medical jurisprudence -- Periodicals; Forensic Medicine -- Periodicals; Médecine légale -- Périodiques; Medical jurisprudence; Periodicals; 614.1
• DOI: 10.1016/j.legalmed.2021.101900
• Languages: English
• ISSNs: 1344-6223

Abstract

Highlights: To the best of our knowledge, there is few autopsy-confirmed X-linked lymphoproliferative disease (XLP) case. Fulminant infectious mononucleosis (FIM) in XLP patients developed to hemophagocytic syndrome have high mortality. As investigations of bone marrow samples are still not a routine procedure in forensic autopsies, it is alternative to investigate the tissue sample thoroughly for XLP at postmortem. This case emphasizes that systemic pathological changes and clinical characteristics of XLP should be well recognized by forensic pathologists. Abstract: X-linked lymphoproliferative disease (XLP) is a rare immunodeficiency disease characterized by severe immune disorder and extreme vulnerability to Epstein-Barr virus (EBV) infections. Here we report a 14-month-old Chinese boy presenting with fulminant infectious mononucleosis (FIM) following EBV infection, and died of hepatic failure within one week of disease progression. Postmortem examination revealed icterus, ascites, extensive enlarged mesenteric lymph nodes and hepatosplenomegaly. Histopathological examination showed diffuse proliferation of cytotoxic T lymphoid cells and hemophagocytosis in multiple organs. The family history revealed his brother had died under similar circumstances at 5 five years of age. The cause of death of the boy was ascribed to XLP. To the best of our knowledge, there is few autopsy-confirmed XLP case in the forensic practice. The complicated manifestations and systemic pathological changes should be well recognized by clinicians and forensic pathologists.