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KMID : 1812320230400030283
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Journal of Yeungnam Medical Science
2023 Volume.40 No. 3 p.283 ~ p.288
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Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report
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Kim Ju-Hyung
Hwang So-Yoon
Hwang Na-Rae
Lee Yeon-Ji
Cho Hee-Jeong
Moon Joon-Ho
Sohn Sang-Kyun
Baek Dong-Won
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Abstract
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Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/μL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/μL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
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KEYWORD
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Bone marrow examination, Granulocyte colony-stimulating factor, Leukemia, Mutation, Neutropenia
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