Marković, Olivera (57205699382)Olivera (57205699382)MarkovićJanić, Dragana (15729368500)Dragana (15729368500)JanićPavlović, Milorad (7202542036)Milorad (7202542036)PavlovićTukić, Ljiljana (13613217500)Ljiljana (13613217500)TukićJanković, Srdja (26023181300)Srdja (26023181300)JankovićFilipović, Branka (22934489100)Branka (22934489100)FilipovićMarisavljević, Dragomir (55945359700)Dragomir (55945359700)Marisavljević2025-06-122025-06-122017https://doi.org/10.2298/VSP150701224Mhttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85019883084&doi=10.2298%2fVSP150701224M&partnerID=40&md5=712e03816ea5b39dbac3de60ab4cb16chttps://remedy.med.bg.ac.rs/handle/123456789/6967Introduction. Hemophagocytic lymphohistiocytosis (HLH) is a rare, potentially life-threatening, hyperinflammatory syndrome caused by severe hypercytokinemia due to a highly stimulated, but ineffective immune response. Case report. We reported a 19-year-old woman presenting with fever, muscle and joint pain and sore throat. After diagnostic procedures we made the diagnosis of hemophagocytic lymphohistiocytosis (7 of 8 HLH-2004 diagnostic criteria) caused by Ebstein-Barr viral infection and trigerred by the intense physical activity. Genetic analysis showed three different sequence changes in Munc-18-2, two splice acceptor side mutations/changes affecting exon 10 (c.795-4 C > T) and exon 15 (c.1247-10 C > T) and a missense mutation c.1375 C > T; p.Arg 459 Trp. All mutations were in heterozygous state and their significance in pathogensis of HLH is not clear. After treatment with corticosteroids and cyclosporin A complete clinical remission was achieved. Conclusion. The presented case history suggests the possibility that mutations of undetermined clinical significance in a gene associated with primary HLH may underlie some cases of secondary HLH, probably by causing a partial, rather than total or subtotal, impairment of encoded protein function. Our case also suggests that strenuous physical activity (in apparent synergy with viral infection) can trigger HLH. © 2017, Institut za Vojnomedicinske Naucne Informacije/Documentaciju. All rights reserved.DiagnosisDifferentialDrug therapyEbstein-barr virus infectionsHemophagocyticImmunologic factorsInflammationLymphohistiocytosisMutationPhysical exertion