We present a case of an asymptomatic man found to have mild pancytopenia and a large spleen who was closely monitored for 6 years but deteriorated rapidly over 3 months with neutropenic sepsis, EBV viraemia and multi-organ failure despite prednisone, immunoglobulin replacement, G-CSF and antibiotic treatments. There was no family history of immune-dysregulation.
Blood tests and histopathology studies were performed at Canterbury Health Laboratories an accrediated tertiary hospital laboratory. Hospital post-mortem was performed at Christchurch Hospital. Relevant tissue samples were embedded in paraffin, stained with H&E and examined under the microscope.
Investigations (age 64-70): mild neutropaenia and thrombocytopenia; spleen 20 cm; bone marrow trephines x2 and spleen biopsy normal.
Investigations (age 71): severe pancytopenia; hepatosplenomegaly; granulomas found in bone marrow and liver; negative staining for mycobacteria/fungi; hypogammalobulinemia; very low T and B cells, EBV viraemia 572000 iu/ml; EBER + Reed-Sternberg-like cells.
Post-mortem results are pending.
The sudden rapid deterioration was suggestive of a profound combined immunodeficiency with a failure of EBV control. The lymphoma diagnosis in the setting of granulomatous/reactive bone marrow appearances was challenging. Due to uncertainty and possibility of a congenital condition, DNA was extracted and stored for future use.