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Volume 3, Issue 1 (2024)
GMJM 2024, 3(1): 41-43 |
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Received: 2023/06/12 | Accepted: 2024/02/5 | Published: 2024/03/12
Received: 2023/06/12 | Accepted: 2024/02/5 | Published: 2024/03/12
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Aggoune S, Maouche H, Chikhi L, Mekimene F, Benmamar S, Moshous D, et al . Hemophagocytic Lymphohistiocytosis and Diagnostic Difficulties. GMJM 2024; 3 (1) :41-43
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S. Aggoune *1, H. Maouche1, L. Chikhi2, F. Mekimene2, S. Benmamar2, D. Moshous3, C. Picard4, G.S. Basile4, J. Donadieu5, G. Leverger6
1- Departement of Pediatric’s, University Teaching Hospital, Belfort, Algeria
2- Departement of Hemobiology, University Teaching Hospital Mustapha Bacha, Algier’s, Algeria
3- Center for the Study of Immune Deficits Tour, University Teaching Hospital Necker, Paris, France
4- Center of Normal and Pathological Homeostasis of the Immune System Laboratory, University Teaching Hospital Necker, Paris, France
5- Unit of Pediatric Immunology, Hematology and Rheumatology (UIHR), University Teaching Hospital Necker, Paris, France
6- Pediatric Hemato-Oncology Department, University Teaching Hospital Trousseau. Paris, France
2- Departement of Hemobiology, University Teaching Hospital Mustapha Bacha, Algier’s, Algeria
3- Center for the Study of Immune Deficits Tour, University Teaching Hospital Necker, Paris, France
4- Center of Normal and Pathological Homeostasis of the Immune System Laboratory, University Teaching Hospital Necker, Paris, France
5- Unit of Pediatric Immunology, Hematology and Rheumatology (UIHR), University Teaching Hospital Necker, Paris, France
6- Pediatric Hemato-Oncology Department, University Teaching Hospital Trousseau. Paris, France
Abstract (595 Views)
Aims: 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's varied clinical presentations, pathophysiology, prognosis, and treatment.
Patient & Methods: A three-year-old girl resulting from a consanguine marriage 2nd degree, without particular antecedents, was patient for 15 days and admitted to our service for an infectious and tumoral syndrome.
Findings: 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.
Conclusion: 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.
Patient & Methods: A three-year-old girl resulting from a consanguine marriage 2nd degree, without particular antecedents, was patient for 15 days and admitted to our service for an infectious and tumoral syndrome.
Findings: 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.
Conclusion: 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.
Keywords:
Cytopenia [MeSH], Fever [MeSH], Consanguinity [MeSH], Macrophage Activation [MeSH], Childhood [MeSH]
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