Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease

Eur J Pediatr. 2007 Jun;166(6):589-93. doi: 10.1007/s00431-006-0290-1. Epub 2006 Oct 21.


X-linked lymphoproliferative disease is a rare T and NK cell immune deficiency which most frequently presents as fulminant infectious mononucleosis following infection with the Epstein-Barr virus (EBV). We report the case of a 4-year-old boy from a Spanish family presenting with severe infectious mononucleosis. In the course of the disease he developed hepatic failure, pancytopenia and neurologic impairment, leading to death after less than 2 months. The results of bone marrow biopsy and autopsy indicated a histological diagnosis of both high-grade B-cell lymphoma and virus-associated haemophagocytic syndrome, thereby confirming the simultaneous presence of two different manifestations of X-linked lymphoproliferative disease (XLP) in this patient. The family history revealed four close male relatives dying under similar circumstances, one of whom died following a vaccination against measles. Molecular genetic studies identified a novel mutation in the SH2D1A gene in several members of the family, establishing the diagnosis of XLP. Fatal EBV infection in male infants is highly indicative of XLP. Virus-associated haemophagocytic syndrome and B-cell lymphoma can occur concomitantly and may be difficult to distinguish due to their similar histological pictures.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Fatal Outcome
  • Humans
  • Infectious Mononucleosis / complications*
  • Infectious Mononucleosis / physiopathology
  • Lymphohistiocytosis, Hemophagocytic / complications*
  • Lymphohistiocytosis, Hemophagocytic / physiopathology
  • Lymphoma, B-Cell / complications*
  • Lymphoma, B-Cell / pathology
  • Lymphoproliferative Disorders / complications*
  • Lymphoproliferative Disorders / genetics
  • Lymphoproliferative Disorders / physiopathology
  • Male