To enhance the understanding of cyclic neutropenia (CyN) and improve the diagnosis and treatment of related diseases. Clinical data were analyzed from a 19-month-old child with recurrent infections and oral ulcers who was admitted to Inner Mongolia Maternal and Child Health Hospital on August 27, 2021 and a literature review was conducted. The patient developed an infection every 14-47 days, with fever, oral ulcers, bacterial infections, and decreased blood neutrophil counts at disease onset. There was no obvious abnormality in the bone marrow morphology, and genetic testing revealed heterozygous mutations in Neutrophil elastase (ELANE), leading to the diagnosis of CyN. For patients with periodic changes in clinical manifestations accompanied by granulocyte deficiency, bone marrow puncture and genetic testing of genes related to granulocyte deficiency should be performed. In patients with neutropenia, genetic testing can aid in the diagnosis of CyN.
Keywords: Congenital neutropenia; ELANE; G-CSF; cyclic neutropenia; severe congenital neutropenia.
AJTR Copyright © 2025.