ISSN: 2149-2247 | E-ISSN: 2149-2549
Erciyes Medical Journal A Fatal Case of Familial Hemophagocytic Lymphohistiocytosis Associated with Fusarium Infection and Rare Mutation [Erciyes Med J]
Erciyes Med J. Ahead of Print: EMJ-33866 | DOI: 10.14744/etd.2022.33866

A Fatal Case of Familial Hemophagocytic Lymphohistiocytosis Associated with Fusarium Infection and Rare Mutation

Mehmet Akif Dündar1, Filiz Orak2, Can Acıpayam3, Kübra Aslan4, Veysel Gök6, Benhur Şirvan Çetin7, Ekrem Ünal5, Christoph Klein8, Basak Nur Akyıldız1
1Department of Pediatrics, Pediatric Intensive Care Unit, Erciyes University Faculty of Medicine, Kayseri, Türkiye
2Department of Medical Microbiology, Sütçü İmam University Faculty of Medicine, Kahramanmaraş, Türkiye
3Division of Pediatric Hematology, Department of Pediatrics, Sütçü İmam University Faculty of Medicine, Kahramanmaraş, Türkiye
4Department of Medical Biology, Erciyes University Faculty of Medicine, Kayseri, Türkiye
5Molecular Biology and Genetic Department, Gevher Nesibe Genom and Stem Cell Institution, Genome and Stem Cell Center (GENKOK), Erciyes University, Kayseri, Türkiye
6Division of Pediatric Hematology-Oncology, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Türkiye
7Division of Pediatric Infection Disease, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Türkiye
8Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany

Background: Hemophagocytic lymphohistiocytosis (HLH) is classified as primary or secondary. While primary (familial) HLH is caused by genetic mutations, secondary (acquired, reactive) HLH is the type that has an underlying cause and is not associated with genetic mutations.
Case Report: We report a two-year-old female patient with a fatal course of Fusarium sepsis who was diagnosed with primary HLH. A homozygous variant of PRF1 (c.445G > A, p.Gly149Ser) was detected. Hyphal growth was detected on Sabouraud dextrose agar and Fusarium multiplied in blood cultures. The patient’s clinical course was fulminant, and she died of septic shock 4 days after admission to the hospital. Fusarium, a rare infection in HLH, was found in this case.
Conclusion: We discovered the rare PRF1 (c.445G>A, p.Gly149Ser) mutation in HLH and the high morbidity and mortality associated with Fusarium infection.

Keywords: Children, familial hemophagocytic lymphohistiocytosis, fusarium, perforin mutation, sepsis.



Corresponding Author: Ekrem Ünal, Türkiye
Manuscript Language: English
LookUs & Online Makale