en Case/Series Report <span style="font-size:10pt"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><b><span style="background:white"><span cambria="" style="font-family:"><span style="color:#7030a0">Aims:</span></span></span></b> <span style="background:white"><span cambria="" style="font-family:">Familial haemophagocytic lymphohistiocytosis is a rare autosomal recessive disorder of immune dysregulation associated with uncontrolled T cell and macrophage activation and hypercytokinaemia. HLH primarily affects the pediatric population, mainly infants under 3 months of age. This article gives a case history and reviews the entity&#39;s varied clinical presentations, pathophysiology, prognosis, and treatment.</span></span><span style="background:white"><span style="font-family:"Cambria",serif"></span></span></span></span></span><br> <span style="font-size:10pt"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><b><span style="background:white"><span cambria="" style="font-family:"><span style="color:#7030a0">Patient & Methods:</span></span></span></b> <span cambria="" style="font-family:">A three-year-old girl resulting from a consanguine marriage 2^nd degree, without particular antecedents, was patient for 15 days and admitted to our service for an infectious and tumoral syndrome.</span><span style="background:white"><span cambria="" style="font-family:"><span style="color:#7030a0"></span></span></span></span></span></span><br> <span style="font-size:10pt"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><b><span style="background:white"><span cambria="" style="font-family:"><span style="color:#7030a0">Findings:</span></span></span></b> <span cambria="" style="font-family:">All our blood cultures were negative. The blood smear did not visualize blasts, and the medullogram found a poor marrow with lymphocytic hemophagocytosis. The genetic study confirmed the abnormal expression of perforin (PRF1). The treatment appealed to ciclosporin and high doses of corticosteroids.</span><span style="background:white"><span cambria="" style="font-family:"><span style="color:#7030a0"></span></span></span></span></span></span><br> <span style="font-size:10pt"><span style="unicode-bidi:embed"><span new="" roman="" style="font-family:" times=""><b><span style="background:white"><span cambria="" style="font-family:"><span style="color:#7030a0">Conclusion:</span></span></span></b> <span cambria="" style="font-family:">In children presenting with prolonged fever, organomegaly, and cytopenia, suspected HLH must be asked for early diagnosis and appropriate therapy. Molecular diagnostics should always be tried, and a bone marrow transplant should be offered every time an HLA-compatible donor is offered.</span><span style="background:white"><span cambria="" style="font-family:"><span style="color:#7030a0"></span></span></span></span></span></span><br> &nbsp; Cytopenia,Fever,Consanguinity,Macrophage Activation,Childhood, 41 43 http://gmedicine.de/browse.php?a_code=A-10-1-37&slc_lang=en&sid=2 S. Aggoune 10031947532846001346 10031947532846001346 Yes Departement of Pediatric’s, University Teaching Hospital, Belfort, Algeria H. Maouche 10031947532846001347 10031947532846001347 No Departement of Pediatric’s, University Teaching Hospital, Belfort, Algeria L. Chikhi 10031947532846001348 10031947532846001348 No Departement of Hemobiology, University Teaching Hospital Mustapha Bacha, Algier’s, Algeria F. Mekimene 10031947532846001349 10031947532846001349 No Departement of Hemobiology, University Teaching Hospital Mustapha Bacha, Algier’s, Algeria S. Benmamar 10031947532846001350 10031947532846001350 No Departement of Hemobiology, University Teaching Hospital Mustapha Bacha, Algier’s, Algeria D. Moshous 10031947532846001351 10031947532846001351 No Center for the Study of Immune Deficits Tour, University Teaching Hospital Necker, Paris, France C. Picard 10031947532846001352 10031947532846001352 No Center of Normal and Pathological Homeostasis of the Immune System Laboratory, University Teaching Hospital Necker, Paris, France G.S. Basile 10031947532846001353 10031947532846001353 No Center of Normal and Pathological Homeostasis of the Immune System Laboratory, University Teaching Hospital Necker, Paris, France J. Donadieu 10031947532846001354 10031947532846001354 No Unit of Pediatric Immunology, Hematology and Rheumatology (UIHR), University Teaching Hospital Necker, Paris, France G. Leverger 10031947532846001355 10031947532846001355 No Pediatric Hemato-Oncology Department, University Teaching Hospital Trousseau. Paris, France