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Cyclic neutropenia is a rare hematological condition characterized by periodic fluctuations in neutrophil counts, with a 21-day periodicity. Clinical presentation varies from mild to severe forms of the disease, with the onset of recurrent fever, painful oral ulcers, recurrent bacterial infections, peritonitis, and septic shock. The availability of granulocyte colony-stimulating factor (G-CSF) has revolutionized the management and natural history of this disease, regulating the proliferation, differentiation, and maturation of the progenitor cells, and reducing the duration of neutropenia. Inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is a group of chronic pathologies that affect the gastrointestinal tract. The onset of both diseases may be at a young age (even during childhood or adolescence), and clinical manifestations may lead to misdiagnosis, due to similar characteristics such as recurrent infections, oral ulcers, perianal abscesses, and infertility. Moreover, the two pathologies are rarely associated, with different management and therapeutic options. Here, we describe two case reports of patients who underwent surgery because of diagnosis of complicated CD. After surgery, due to persistent neutropenia, the hematologist consultant confirmed suspicions of cyclic neutropenia, and G-CSF therapy was started with benefits, underlining the crucial importance of proper differential diagnosis.
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http://dx.doi.org/10.3390/jcm12196323 | DOI Listing |
Mol Genet Metab
August 2025
Department of Medical Genetics and Genomics, Icahn School of Medicine at Mount Sinai, 1428 Madison Ave, Atran Building, 1st Floor, New York, NY 10029, USA. Electronic address:
Barth syndrome is an exceedingly rare and potentially fatal X-linked mitochondrial disease arising from pathogenic variants in TAFAZZIN (TAZ), leading to defects in mature cardiolipin synthesis and its integration into the mitochondrial inner mitochondrial membrane. Clinical features that may be severe include cardiomyopathy, cyclic neutropenia, skeletal myopathy, and growth delay. Currently, no FDA-approved therapies exist.
View Article and Find Full Text PDFFront Immunol
August 2025
National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
Mutations in the gene, which encodes neutrophil elastase, are known to cause cyclic neutropenia (CyN) and severe congenital neutropenia (SCN). Currently, targeting for insertion-deletion to trigger nonsense-mediated mRNA decay (NMD) may be a simple and universal method to treat SCN caused by mutations. Here, we present a patient with a heterozygous out-of-frame frameshift variant (-2 frame indel) in exon 4 of the gene.
View Article and Find Full Text PDFJ Dent Child (Chic)
January 2025
Department of Dentistry, Hospital Sant Joan de Dé u,and a tenured professor, Department of Odontostomatology, Faculty of Medicine and Health Sciences, University of Barcelona, all in Barcelona Spain.
The purpose of this report is to present the case of a 17-year-old girl diagnosed with cyclic neutropenia (CN), who had undergone six months of treatment with zoledronate three years before. She sought treatment for extreme mobility of the mandibular left lateral incisor, canine and first premolar that had been present for one month. Clinical features included calculus, severe gingival recession and mandibular bone exposure.
View Article and Find Full Text PDFAm J Transl Res
February 2025
Department of Pediatrics, Inner Mongolia Autonomous Region Maternal and Child Health Hospital Hohhot 010000, Inner Mongolia, China.
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.
View Article and Find Full Text PDFJ Cell Immunol
January 2024
Department of Medicine, University of Washington, Seattle, Washington, U.S.A.
Neutrophil elastase () mutations are the most common cause of cyclic (CyN) and congenital neutropenia (SCN), two autosomal dominant disorders causing recurrent infections due to impaired neutrophil production. Granulocyte colony-stimulating factor (G-CSF) corrects neutropenia but has adverse effects, including bone pain and in some cases, an increased risk of myelodysplasia (MDS) and acute myeloid leukemia (AML). Hematopoietic stem cell transplantation is an alternative but is limited by its complications and donor availability.
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