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

DÜNDAR M. A., ORAK F., ACIPAYAM C., Aslan K., Gök V., ÇETİN B. Ş., ...Daha Fazla

ERCIYES MEDICAL JOURNAL, cilt.45, sa.2, ss.207-210, 2023 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 45 Sayı: 2
  • Basım Tarihi: 2023
  • Doi Numarası: 10.14744/etd.2022.33866
  • Dergi Adı: ERCIYES MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Academic Search Premier, CAB Abstracts, EMBASE, Veterinary Science Database, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.207-210
  • Anahtar Kelimeler: Children, familial hemophagocytic lymphohistiocytosis, fusarium, perforin mutation, sepsis
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.