S. Aggoune , H. Maouche , L. Chikhi, F. Mekimene , S. Benmamar , D. Moshous , C. Picard, G.s. Basile , J. Donadieu , G. Leverger ,
Volume 3, Issue 1 (Winter 2024)
Abstract
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.
