This supplementary information is presented as submitted by the corresponding author. It has not been copy-edited by NTvG.
Over 90% of the adult population is infected with the Epstein-Barr virus (EBV), which, after primary infection, persists latently for life. In isolated cases, especially in immunocompromised hosts, the Epstein-Barr virus can cause a chronic active infection (CAEBV).
We describe a case of an 11-year-old boy with Down syndrome who was admitted to our paediatrics ward for analysis of fever of unknown origin. Accompanying symptoms were discomfort, abdominal pain, emesis and weight loss (10% in 6 months). Past medical history included a case of infectious mononucleosis caused by a serologically confirmed EBV infection. Current serological findings (high VCA-IgG and absent EBNA-IgG) were incongruous with latent infection, and the diagnosis CAEBV was confirmed by demonstrating high plasma EBV viral loads. During admission our patient relapsed, this time with pancytopenia. Screening for hemophagocytic lymphohistiocytosis was performed and enough criteria (fever, splenomegaly, cytopenia, ferritin >500ng/ml, low Natural Killer cel activity and elevated soluble CD25) were met to establish the diagnosis. In addition, a FDG-PET-CT scan was performed, showing multiple positive lesions in the left side of the neck, supraclaviculair, paratracheal, axillary, paravertebral, subcarinal and mesenterial. After lymph node dissection and histological study, our patient was also diagnosed with Hodgkin’s lymphoma. Initially, full remission was achieved with a combination of chemotherapy and rituximab. However, at the time this article was being completed, our patient, now age 16, was readmitted with stage 4 grey zone lymphoma.
This is the first time CAEBV complicated by concurrent hemophagocytic lymfohistiocytosis and Hodgkin lymphoma is described in a patient with Down syndrome. CAEBV is a result of deficiency in cellular immunity, which in this case could possibly be attributed to deficiencies in the immune system associated with Down syndrome.