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Familial hemophagocytic lymphohistiocytosis(FLH) ia an autosomal recessively inherited multisystem disease. This defect in celular cytotoksicity is a life threating condition characterized by fever, rash, splenomegaly, cytopenias and neurologic manifestations. PRF1, UNC13D and STX11 gene defects underlie in about 40-50% of primary cases. Chemoimmunotherapy followed by hematopoietic stem cell transplantation improved desease outcome. We report the case of 6-week-old boy who presented with a fever diffuse rash, disseminated intravascular coagulation, hypofibrinogenemia, hypertrigliceridemia, hepatosplenomegaly, leukocytosis with 90% kymphocytes, granulocytopenia, anemia, trombocytopenia, hyperferritinemia, and pathological findings in cerebrospinal fluid. The patient have decreased frequency of NK cells and low NK cell activity in peripheral blood. Bone marrow aspiration analysis showed degenerative changes of histiocyte cells, with preserved cytophages(lymphophages and erythrophages) consistent with hematophagocytic syndrome. Given that the molecular diagnosis of the known mutations in genes PRF1 and UNC13D showed a mutation in UNC13D, the diagnosis of FHL subtype # was established. HLH-2004 chemotherapy protocol was performed and partial remissiom with residual central nervous system disease was achived. Hematopoetic stem cell transplantation was successfully performed with an unrelated HLA-identical donor. Familiar HLH is generaly a progressive and fatal disease. Early diagnostic with mollecular genetic analysis and chemoimmunotherapy followed by hematopoetic stem cell transplantation is the best approach. |
