, Filiz Orak 2
, Can Acıpayam 3
, Kübra Aslan 4
, Veysel Gök 6
, Benhur Şirvan Çetin 7
, Ekrem Ünal 5
, Christoph Klein 8
, Basak Nur Akyıldız 1
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
Abstract
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 mortal-ity associated with Fusarium infection.