Introduction:

Hemophagocytic lymphohistiocytosis is a rare, high-mortality heterogeneous syndrome characterized by disproportionate and uncontrollable inflammation due to activation of the immune system (activated macrophages and lymphocytes) by primary and secondary causes such as Epstein Barr virus infection. It is characterized by fever, splenomegaly, elevated biomarkers of inflammation. Epstein Barr virus is the most frequent infectious cause. Diagnosis requires high clinical suspicion and fulfillment of 5 of the 8 criteria of the Histiocyte Society HLH 2004. Early initiation of immunosuppressive and myelosuppressive therapy improves the survival rate. We present the case of a minor infant with clinical picture of fever, diarrhea, somnolence who developed acute respiratory failure, on physical examination she presented hepatosplenomegaly. Laboratory tests showed elevated inflammatory markers and liver enzymes, PCR for Epstein Barr virus with more than 7 million copies detected and myelogram showed medullary hypocellularity with evident hemophagocytosis.

Objective:

To instruct pediatric physicians on the identification of clinical features, early diagnosis and adequate treatment of this little known pathology.

Materials and methods:

Information on the case was collected from the medical system at the Dr. Roberto Gilbert Elizalde Children's Hospital and a review of the scientific literature.

Results:

In spite of the treatment administered according to the HLH 94 protocol, there was no favorable response with fatal outcome.

Conclusion:

Hemophagocytic lymphohistiocytosis is a rare hyperinflammatory syndrome with non-specific clinical features, which without timely diagnosis and management presents high mortality.