Assessment of Congenital Neutropenia in Children: Common Clinical Sceneries and Clues for Management

Abstract

A disparate group of rare hematological diseases characterized by impaired maturation of neutrophil granulocytes defines congenital neutropenias. Neutropenic patients are prone to recurrent infections beginning in the first months of life. Of interest is “cyclic neutropenia”, an ultra-rare disorder revealed by sinusoidal variations of the neutrophil count and periodically-recurring infections every 21 days. Diagnosis of these disorders is frequently obscured by the multiple causes of recurrent fevers in children. Aim of this overview is to outline the physical assessment of children presenting with early-onset symptomatic neutropenia, identify the disease between the many medical conditions and even emergencies which should enter in differential diagnosis, hint at the potential management with granulocyte-colony stimulating factor, define the risk of evolution to hematologic malignancy, and summarize inter-professional team strategies for improving care coordination and outcomes of such patients.

Clinical Characteristics and Treatment Response of a Novel ELANE Gene Mutation (c.295_303del) in Congenital Neutropenia

“…CyN typically shows recurrent fever and infections with cyclical neutrophil reductions, usually under 0.2×10 9 /L for 3–5 days in a 21-day cycle, often asymptomatic between episodes. 5 However, the case lacked these cyclical patterns in infections and neutrophil counts, and sometimes, the neutrophil count exceeded 0.2×10 9 /L, ruling out CyN and supporting the SCN diagnosis. Treatment with recombinant human granulocyte colony-stimulating factor (G-CSF) significantly improved the patient’s condition, as shown by increased neutrophil counts and reduced infection rates.…”

“… 4 This study reports a previously undocumented ELANE gene mutation, c.295_303del (p.F99_V101del), in the third exon, implicated in SCN pathogenesis. In addition, it is worth mentioning that the MJHID recently published a review article entitled “Assessment of congenital neutropenia in children: common clinical sceneries and clues for management”, 5 which provides a comprehensive and updated perspective on this topic and is an essential reference for understanding and exploring this newly discovered mutation.…”

Oral manifestations associated with neutropenia in Syrian patients diagnosed with hematological malignancies and undergoing chemotherapy: A cross-sectional study

“…These lesions are often characterized by pain and can be associated with bleeding, necrosis, as well as secondary bacterial and fungal infections. [ 14 , 29 , 30 ] Similarly, indirect oral side effects of chemotherapy primary arise from neutropenia and impaired salivary enzymes, which increase the vulnerability of the patient to viral infections. This claim is supported by studies conducted by Muhammad & Alzubaidee in 2020 and Velten in 2017.…”

The Clinical Chameleon of Autoinflammatory Diseases in Children

“…There are limited studies focusing on the cyclic nature of PFAPA symptom recurrence, though clock-related genes and their interaction with different immunologic activities have been proven [ 91 ]. PFAPA clinical picture overlaps with several other causes of recurring fevers in the pediatric population, such as recurrent tonsillitis, Behçet’s disease and mostly cyclic neutropenia, an ultra-rare hereditary condition diagnosed via demonstration of periodic oscillations of the neutrophil count every 21 days [ 92 ]. Adults with de novo PFAPA syndrome or with reappearance of PFAPA symptoms after a first disease resolution have been increasingly reported, but they have a less strict phenotype [ 93 , 94 ].…”