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

机译:周期性中性粒细胞减少症伴新基因突变,表现为坏死性软组织感染和严重败血症:病例报告

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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.
机译:背景周期性中性粒细胞减少症是一种罕见的疾病。我们报道了一个31个月大的女孩,患有先天性循环性中性粒细胞减少症,其ELANE基因发生了新的突变,在她的左腋窝军团身上出现了急性坏死性软组织感染。病例介绍一名31个月大的女孩因左侧腋窝区域坏死性软组织感染而入我们的儿科急诊室。感染进展迅速,并导致败血性休克。尽管进行了药物治疗和外科手术清创术,败血症仍未得到控制,并且出现了严重的炎症。应用负压伤口疗法后,她的临床症状得到改善。最后,她被诊断患有周期性中性粒细胞减少症,并伴有新的基因突变。入院一个月后,她出院,伤口完全康复,无需植皮。结论适当的药物治疗和有效地控制感染源对于降低像免疫功能低下的小儿患者那样复杂的坏死性筋膜炎病例的发病率至关重要。

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