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Case Report Review Synthesis: Cyclic Neutropenia Response to rhG-CSF in a Pediatric Patient

Case Report Review Synthesis: Cyclic Neutropenia Response to rhG-CSF in a Pediatric Patient
Photo by Steve A Johnson / Unsplash
Key Takeaway
Consider rhG-CSF for pediatric cyclic neutropenia, but recognize evidence is limited to a single case report.

This document functions as a review and synthesis based on a single case report involving a pediatric population. The scope focuses on the management of cyclic neutropenia, specifically examining the clinical course of a 7-year-old girl. The evidence level is identified as a case report, indicating preliminary observations rather than controlled trial data.

The intervention involved the administration of recombinant human granulocyte colony-stimulating factor combined with infection control and supportive care. The patient responded well to this treatment regimen. Follow-up duration is noted as awaiting hematopoietic stem cell transplantation (HSCT), meaning long-term outcomes remain pending. No specific adverse events or discontinuations were reported in the available data.

Authors note significant limitations regarding the generalizability of these findings to broader populations. The certainty of the evidence is low due to the single-case design. There is a caution against inferring causality beyond the specific instance of a de novo ELANE c.416C>T mutation causing cyclic neutropenia. Safety data regarding adverse events were not reported. Consequently, clinical application requires careful consideration of individual patient factors.

Practice relevance emphasizes that early and accurate diagnosis, individualized treatment, and long-term follow-up are critical to improve outcomes. Clinicians should interpret these results with caution given the observational nature of the evidence. The synthesis highlights the potential utility of rhG-CSF in this specific context while acknowledging the need for further investigation. Monitoring for response and safety remains essential during the treatment period.

Study Details

Study typeSystematic review
EvidenceLevel 1
PublishedApr 2026
View Original Abstract ↓
Childhood cyclic neutropenia (CN) is a rare hematopoietic disorder. We describe the clinical phenotype, diagnostic features, and management of a pediatric CN case caused by a de novo ELANE mutation, to improve clinical recognition and care. We retrospectively analyzed clinical, laboratory, and genetic data from a 7-year-old girl with CN, combined with bioinformatics and literature review to explore genotype–phenotype correlations and optimal therapy. The patient presented with classic 21−day cyclic episodes of fever, oral ulcers, and lymphadenopathy. Peripheral blood absolute neutrophil count (ANC) fell to 0.04×109/L at nadir, accompanied by monocytosis. Whole−exome sequencing identified a de novo heterozygous ELANE c.416C>T (p.Pro139Leu) variant. The Pro139 residue is highly conserved across species, and substitution is predicted to impair neutrophil elastase structure and function. The patient responded well to recombinant human granulocyte colony−stimulating factor (rhG−CSF) plus infection control and supportive care and is currently awaiting hematopoietic stem cell transplantation (HSCT). Pediatric CN features periodic fever and mucosal infection. Diagnosis requires both cyclic neutropenia documented by serial monitoring and pathogenic ELANE variant confirmation. rhG−CSF remains first−line therapy. Identification of this de novo c.416C>T variant broadens the genotypic spectrum of ELANE-related CN. Early and accurate diagnosis, individualized treatment, and long−term follow−up are critical to improve outcomes.
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