Belgian Journal of Paediatrics
Familial hemophagocytic lymphohistiocytosis type 3: case report
Vol. 24 No. 2 (2022), Case reports
Vol. 24 No. 2 (2022)

Familial hemophagocytic lymphohistiocytosis type 3: case report

Case reports
Published 2022-07-12 — Updated on 2023-01-17
Laure Guérit
Department of Pediatrics, Clinique Saint-Pierre Ottignies, Belgium
Samuel Balbeur
Department of Pediatrics, Clinique Saint-Pierre, Ottignies andDepartment of Pediatric Hematology and Oncology, Cliniques universitaires Saint-Luc, Brussels, Belgium
Nathalie Bilem
Department of Pediatrics, Clinique Saint-Pierre Ottignies, Belgium
Bénédicte Brichard
Department of Pediatric Hematology and Oncology, Cliniques universitaires Saint-Luc, Brussels, Belgium
Cécile Boulanger
Department of Pediatric Hematology and Oncology, Cliniques universitaires Saint-Luc, Brussels, Belgium

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Keywords

familia hemophagocytic lymphohistiocytosis
UNC13D
pancytopenia
case report

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How to Cite

Guérit, L., Balbeur, S., Bilem, N., Brichard, B., & Boulanger, C. (2023). Familial hemophagocytic lymphohistiocytosis type 3: case report. Belgian Journal of Paediatrics, 24(2), 140–142. Retrieved from http://belgjpaediatrics.com/index.php/bjp/article/view/82 (Original work published July 12, 2022)
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Abstract

Hemophagocytic lymphohistiocytosis (HLH), including familial hemophagocytic lymphohistiocytosis (FHLH), is a rare and underdiagnosed syndrome of excessive immune activation which can be fatal if not treated. We report the case of a previously healthy 13-month-old girl who presented with prolonged fever, anaemia and hepatosplenomegaly, and then developed pancytopenia and biological signs of extreme inflammation. Genetic tests showed mutations in UNC13D gene, involved in FHLH type 3. Patient was treated with immunochemotherapy and underwent hematopoietic stem cell transplantation (HSCT). Awareness of this disease is crucial to make rapid diagnosis, in order to initiate a prompt treatment and quickly proceed to HSCT.

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