Case 28-2004: newborn twins with thrombocytopenia, coagulation defects, and hepatosplenomegaly

A case study is presented of two identical male infants who showed symptoms of fever, splenomegaly, hepatomegaly, thrombocytopenia, neutropenia, hypofibrinogenemia, and hyperbilirubinemia. The pathological diagnosis indicated familial hemophagocytic lymphohistiocytosis, caused by a mutation in the perforin gene.