Epstein-Barr virus infection in Chediak-Higashi syndrome mimicking acute lymphocytic leukemia

We have had the opportunity to study a case of Chediak-Higashi syndrome (CHS) in the accelerated phase that was associated with Epstein-Barr virus (EBV) infection. The clinical course of a 12-year-old boy was characterized by fever, lymphadenopathy, hepatosplenomegaly, and pancytopenia. However, in the terminal stage, the appearance of an atypical lymphoblastic leukocytosis was morphologically indistinguishable from acute lymphocytic leukemia, accompanied by benign histiocytosis with hemophagocytosis. Autopsy examination revealed an atypical lymphoid infiltration favoring EBV infection as the primary diagnosis. This case underscores the fatal consequences of EBV infection in CHS.