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Fatal unexpected death due to X-linked lymphoproliferative disease

Jiao Mu1, Dazhong Xue2, Meiyu Li2

  • 1Department of Biomedical Engineering, School of Biological Science and Medical Engineering, Beihang University, Beijing 100191, PR China; Department of Forensic Medicine, Hebei North University, No. 11 Zuanshinan Road, Zhangjiakou, Hebei 075000, PR China.

Legal Medicine (Tokyo, Japan)
|May 23, 2021
PubMed

Insights

X-linked lymphoproliferative disease (XLP) is a rare condition causing severe immune deficiency, particularly after Epstein-Barr virus (EBV) infection. This case highlights critical autopsy findings in a child with XLP, emphasizing its recognition in forensic pathology.

Area of Science:

  • Immunology
  • Pathology
  • Genetics

Background:

  • X-linked lymphoproliferative disease (XLP) is a rare primary immunodeficiency.
  • It is characterized by extreme susceptibility to Epstein-Barr virus (EBV) infections.
  • XLP leads to severe immune dysregulation and high mortality.

Observation:

  • A 14-month-old Chinese boy presented with fulminant infectious mononucleosis (FIM) post-EBV infection.
  • The child experienced rapid disease progression, succumbing to hepatic failure within a week.
  • Autopsy revealed jaundice, ascites, enlarged lymph nodes, and hepatosplenomegaly.

Findings:

  • Histopathology demonstrated diffuse cytotoxic T-lymphoid cell proliferation.
  • Hemophagocytosis was observed in multiple organs.
  • A familial history of a sibling dying from similar symptoms at age five suggested an inherited condition.

Implications:

  • The case was definitively attributed to X-linked lymphoproliferative disease (XLP).
  • Autopsy-confirmed XLP cases are rare in forensic practice.
  • Recognizing the complex clinical and systemic pathological changes of XLP is crucial for clinicians and forensic pathologists.
Keywords:
Epstein-Barr virus infectionForensic pathologyFulminant infectious mononucleosisHemophagocytosisX-linked lymphoproliferative disease

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