Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report
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....
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| Format: | Article |
| Language: | English |
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Yeungnam University College of Medicine, Yeungnam University Institute Medical Science
2023-07-01
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| Series: | Journal of Yeungnam Medical Science |
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| Online Access: | http://www.e-jyms.org/upload/pdf/jyms-2022-00353.pdf |
| _version_ | 1827890010061275136 |
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| author | Juhyung Kim Soyoon Hwang Narae Hwang Yeonji Lee Hee Jeong Cho Joon Ho Moon Sang Kyun Sohn Dong Won Baek |
| author_facet | Juhyung Kim Soyoon Hwang Narae Hwang Yeonji Lee Hee Jeong Cho Joon Ho Moon Sang Kyun Sohn Dong Won Baek |
| author_sort | Juhyung Kim |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T21:04:06Z |
| format | Article |
| id | doaj.art-87a976fa16a4488f9fe9d28b21ea1fd5 |
| institution | Directory Open Access Journal |
| issn | 2799-8010 |
| language | English |
| last_indexed | 2024-03-12T21:04:06Z |
| publishDate | 2023-07-01 |
| publisher | Yeungnam University College of Medicine, Yeungnam University Institute Medical Science |
| record_format | Article |
| series | Journal of Yeungnam Medical Science |
| spelling | doaj.art-87a976fa16a4488f9fe9d28b21ea1fd52023-07-31T00:03:40ZengYeungnam University College of Medicine, Yeungnam University Institute Medical ScienceJournal of Yeungnam Medical Science2799-80102023-07-0140328328810.12701/jyms.2022.003532732Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case reportJuhyung Kim0Soyoon Hwang1Narae Hwang2Yeonji Lee3Hee Jeong Cho4Joon Ho Moon5Sang Kyun Sohn6Dong Won Baek7 Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea Department of Infectious Diseases, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, Korea Department of Clinical Pathology, School of Medicine, Kyungpook National University, Daegu, Korea Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea Department of Hematology/Oncology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, Korea Department of Hematology/Oncology, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea Department of Hematology/Oncology, Kyungpook National University Chilgok Hospital, School of Medicine, Kyungpook National University, Daegu, KoreaSevere 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.http://www.e-jyms.org/upload/pdf/jyms-2022-00353.pdfbone marrow examinationgranulocyte colony-stimulating factorleukemiamutationneutropenia |
| spellingShingle | Juhyung Kim Soyoon Hwang Narae Hwang Yeonji Lee Hee Jeong Cho Joon Ho Moon Sang Kyun Sohn Dong Won Baek Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report Journal of Yeungnam Medical Science bone marrow examination granulocyte colony-stimulating factor leukemia mutation neutropenia |
| title | Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report |
| title_full | Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report |
| title_fullStr | Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report |
| title_full_unstemmed | Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report |
| title_short | Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report |
| title_sort | severe congenital neutropenia mimicking chronic idiopathic neutropenia a case report |
| topic | bone marrow examination granulocyte colony-stimulating factor leukemia mutation neutropenia |
| url | http://www.e-jyms.org/upload/pdf/jyms-2022-00353.pdf |
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