Familiar haemophagocytic lymphohistiocytosis is a very rare disease, until now not described in slovak literature.

Authors are describing a case of a nine-week old infant admitted to the ICU of the neonatology department of Children's University Hospital in Bratislava in March 1995. The diagnosis was based on the clinical course of the disease, and additional examinations, special histological examination of biopsy of bone marrow, and also by a retrospective analysis of the biopsy material from spleen, lymph node, thymus and liver from her older brother. He died at the age of 13 months under similar clinical symptoms, pancytopenia, lymphadenopathy, immunodeficiency, hepatosplenomegaly and sepsis.

Our child also died in a short time after being admitted to ICU, with overwhelming sepsis, at the age of 3 months. It was in April 1995, at a time that there was no possibility for bone marrow transplantation in Slovakia. There is a unit for BMT in our institute since November 1995, the only one in Slovakia for children.