Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis: Case report

Yoon-Jung Boo, Myung-Hyun Nam, Eun Hee Lee, Kuang Chul Lee

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Background: Cyclic neutropenia is a rare disease. We report a 31-month-old girl with congenital cyclic neutropenia with a novel mutation in the ELANE gene who developed an acute necrotizing soft-tissue infection on her left axillary legion. Case presentation: A 31-month-old girl was admitted to our pediatric emergency room because of a necrotizing soft tissue infection of the left axillary area. The infection progressed rapidly and resulted in septic shock. Despite a medical treatment and surgical debridement, the sepsis was not controlled, and severe inflammation developed. After applying of negative-pressure wound therapy, her clinical symptoms improved. Finally, she was diagnosed with cyclic neutropenia with a novel genetic mutation. One month after admission, she was discharged with a completely recovered wound and no need for skin grafting. Conclusion: Both adequate medical treatment and effective control of the source of infection are critically important to reduce morbidity in such complex cases of necrotizing fasciitis as appeared in an immunocompromised pediatric patient.

Original languageEnglish
Article number34
JournalBMC Pediatrics
Volume15
Issue number1
DOIs
Publication statusPublished - 2015 Apr 2

Fingerprint

Soft Tissue Infections
Sepsis
Mutation
Pediatrics
Negative-Pressure Wound Therapy
Genes
Necrotizing Fasciitis
Skin Transplantation
Immunocompromised Host
Debridement
Infection Control
Septic Shock
Rare Diseases
Hospital Emergency Service
Inflammation
Morbidity
Wounds and Injuries
Therapeutics
Infection
Cyclic neutropenia

Keywords

  • Cyclic neutropenia
  • Necrotizing
  • Negative-pressure wound therapy
  • Soft tissue infection

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Cyclic neutropenia with a novel gene mutation presenting with a necrotizing soft tissue infection and severe sepsis : Case report. / Boo, Yoon-Jung; Nam, Myung-Hyun; Lee, Eun Hee; Lee, Kuang Chul.

In: BMC Pediatrics, Vol. 15, No. 1, 34, 02.04.2015.

Research output: Contribution to journalArticle

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