title: Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Leipzig, Oststrasse 21-25, Leipzig, Germany. boris.huegle@medizin.uni-leipzig.de
authors.forename: Boris
authors.initials: B
authors.lastname: Hügle
authors.forename: Itziar
authors.initials: I
authors.lastname: Astigarraga
authors.forename: Jan-Inge
authors.initials: JI
authors.lastname: Henter
authors.forename: Anna
authors.initials: A
authors.lastname: Porwit-MacDonald
authors.forename: Alfons
authors.initials: A
authors.lastname: Meindl
authors.forename: Volker
authors.initials: V
authors.lastname: Schuster
mesh_terms: D002675:Child, Preschool; D017809:Fatal Outcome; D006801:Humans; D007244:Infectious Mononucleosis / Q000150:complications* / Q000503:physiopathology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000150:complications* / Q000503:physiopathology; D016393:Lymphoma, B-Cell / Q000150:complications* / Q000473:pathology; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D008297:Male