Search | Korea Science

Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report

Juhyung Kim;Soyoon Hwang;Narae Hwang;Yeonji Lee;Hee Jeong Cho;Joon Ho Moon;Sang Kyun Sohn;Dong Won Baek
- Journal of Yeungnam Medical Science
- /
- v.40 no.3
- /
- pp.283-288
- /
- 2023
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.
https://doi.org/10.12701/jyms.2022.00353 인용 PDF

Ectopic Adrenal Adenoma in Renal Sinus: A Case Report (신장의 이소성 부신 선종: 증례 보고)

John Baek;See Hyung Kim;Seung Hyun Cho;Won Hwa Kim;Hye Jung Kim;Hun Kyu Ryeom;Ghilsuk Yoon
- Journal of the Korean Society of Radiology
- /
- v.83 no.5
- /
- pp.1116-1120
- /
- 2022
The kidney is a rare site of ectopic adrenal adenoma. To the best of our knowledge, some cases of ectopic adrenal adenoma have been found in the kidney, but few of these cases explain the CT and MRI findings of the lesion. We reported a case of ectopic adrenal adenoma in the left renal sinus. A 47-year-old male patient underwent abdominal CT for routine health check-ups, which revealed a 1.2 cm enhancing mass in the left renal sinus. The MRI showed a signal drop of the mass in T1 weighted in- and opposed-phase, which indicates fat components. The mass was confirmed as an ectopic adrenal adenoma after surgery.
https://doi.org/10.3348/jksr.2021.0187 인용 PDF