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

BMC Pediatrics

Kuang Chul Lee¹  Eun Hee Lee¹  Myung Hyun Nam³  Yoon Jung Boo² 

[1] Department of Pediatric, Korea University College of Medicine, Seoul, Korea;Division of Pediatric Surgery, Department of Surgery, Korea University College of Medicine, 73 Inchonro, Sungbuk-gu, Anam-dong, Seoul 136-705, Korea;Department of Laboratory Medicine, Korea University College of Medicine, Seoul, Korea

关键词: Negative-pressure wound therapy;    Necrotizing;    Soft tissue infection;    Cyclic neutropenia;   

Others  :  1170550
DOI  :  10.1186/s12887-015-0352-5

 received in 2014-03-24, accepted in 2015-03-19,  发布年份 2015

【 摘 要 】

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.

【 授权许可】

   
2015 Boo et al.; licensee BioMed Central.

【 图 表 】

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【 参考文献 】

• [1]Dale DC: Cyclic and chronic neutropenia: an update on diagnosis and treatment. Clin Adv Hematol Oncol 2011, 9(11):868-9.
• [2]The Human Gene Mutation Database. [http://www.hgmd.cf.ac.uk]
• [3]Dale DC, Welte K: Cyclic and chronic neutropenia. Cancer Treat Res 2011, 157:97-108.
• [4]Palmer SE, Stephens K, Dale DC: Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am J Med Genet 1996, 66(4):413-22.
• [5]Pandey A, Gangopadhyay AN, Upadhyaya VD: Necrotising fasciitis in children and neonates: current concepts. J Wound Care 2008, 17(1):5-10.
• [6]Al-Subhi F, Zuker R, Cole W: Vacuum-assisted closure as a surgical assistant in life-threatening necrotizing fasciitis in children. Can J Plast Surg 2010, 18(4):139-42.
• [7]Stoffan AP, Ricca R, Lien C, Quigley S, Linden BC: Use of negative pressure wound therapy for abdominal wounds in neonates and infants. J Pediatr Surg 2012, 47(8):1555-9.
• [8]Tsai YH, Huang KC, Shen SH, Hsu WH, Peng KT, Huang TJ: Microbiology and surgical indicators of necrotizing fasciitis in a tertiary hospital of southwest Taiwan. Int J Infect Dis 2012, 16(3):e159-65.
• [9]Lim VS, Amrith S: Necrotising fasciitis of the eyelid with toxic shock due to Pseudomonas aeruginosa. Singap Med J 2010, 51(3):e51-3.
• [10]Horwitz MS, Corey SJ, Grimes HL, Tidwell T: ELANE mutations in cyclic and severe congenital neutropenia: genetics and pathophysiology. Hematol/Oncol Clin North America 2013, 27(1):19-41. vii
• [11]Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al.: A method and server for predicting damaging missense mutations. Nat Methods 2010, 7(4):248-9.