Tabanelli et al. Journal of Medical Case Reports 2011, 5:218 http://www.jmedicalcasereports.com/content/5/1/218 C A S E R E P O R T JOURNAL OF MEDICAL CASE REPORTS Open Access Systemic Epstein-Barr-virus-positive T cell lymphoproliferative childhood disease in a 22-year-old Caucasian man: A case report and review of the literature Valentina Tabanelli1, Claudio Agostinelli1, Elena Sabattini1, Anna Gazzola1, Francesco Bacci1, Saveria Capria2, Claudia Mannu1, Simona Righi1, Maria Teresa Sista1, Giovanna Meloni2, Stefano A Pileri1 and Pier Paolo Piccaluga1* Abstract Introduction: Systemic Epstein-Barr-virus-positive T cell lymphoproliferative disease of childhood is an extremely rare disorder, characterized by clonal proliferation of Epstein-Barr-virus-infected T cells with an activated cytotoxic phenotype. The disease is more frequent in Asia and South America, with only few cases reported in Western countries. A prompt diagnosis, though often difficult, is a necessity due to the very aggressive clinical course of the disease. Case presentation: We report the clinicopathological features of fulminant T cell lymphoproliferative disease that arose in the setting of acute primary Epstein-Barr virus infection. Our patient, a 23-year-old man, presented to our facility with persisting fever, hepatosplenomegaly and severe pancytopenia. On bone marrow biopsy, an abundant lymphoid infiltrate was observed. Immunophenotypic and molecular studies revealed that the atypical lymphoid cells displayed a CD8+, Epstein-Barr-encoded-RNA-positive T cell phenotype with clonal rearrangement of the T cell receptor genes, the final diagnosis being systemic Epstein-Barr-virus-positive T cell lymphoproliferative disease. On reviewing the literature we found only 14 similar cases, all presenting with very aggressive clinical courses and requiring extensive phenotyping and molecular techniques for final diagnosis. Conclusion: Though extremely rare, this disease can occur in Europe, and a comprehensive diagnostic approach is thus recommended in all case of Epstein-Barr-virus-positive lymphoproliferative disorders. Unfortunately, at present no specific treatment is available; however, prompt administration of anti- Epstein-Barr virus treatment and rapid attempts to control the hemophagocytic syndrome are indicated. Introduction Primary infection of Epstein-Barr virus (EBV) is com- monly asymptomatic, but some children, adolescents and young adults develop infectious mononucleosis [1] (IM), a benign febrile disease characterized by hepatospleno- megaly, lymphadenopathy, and increase of activated CD8 + T lymphocytes in peripheral blood [1,2]. However, exceptionally, younger patients can develop a very aggressive form, referred to in the past as ‘fulminant * Correspondence: pierpaolo.piccaluga@unibo.it 1Department of Hematology and Oncological Sciences ‘L and A Seràgnoli’, Hematopathology Section, S Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy Full list of author information is available at the end of the article infectious mononucleosis’ or ‘fatal haemophagocytic syn- drome’. The disorder is characterized by rapid deteriora- tion in previously healthy children, secondary to acute primary EBV infection; this syndrome is accompanied by high fever, skin rash, pulmonary infiltrate, jaundice, hepa- tosplenomegaly, cytopenia, haemophagocytic syndrome, and coagulopathy [3]. Unfortunately, patients commonly die within a few weeks of diagnosis. In addition, EBV is implicated in the pathogenesis of different types of lymphoproliferative diseases (LPD), which are related to diverse immune alterations or peculiar clinical backgrounds [4]. Typically, EBV-asso- ciated lymphoproliferative disorders are derived from B cells, such as Hodgkin disease and Burkitt lymphoma, © 2011 Tabanelli et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.