J Yeungnam Med Sci.  2023 Jul;40(3):283-288. 10.12701/jyms.2022.00353.

Severe congenital neutropenia mimicking chronic idiopathic neutropenia: a case report

• Kim J
• Hwang S
• Hwang N
• Lee Y
• Cho HJ
• Moon JH
• Sohn SK
• Baek DW

• KMID: 2544589
• DOI: http://doi.org/10.12701/jyms.2022.00353

Abstract

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.

Keyword

Bone marrow examination; Granulocyte colony-stimulating factor; Leukemia; Mutation; Neutropenia

Figure

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  Fig. 1. Time courses of absolute neutrophil count (ANC) throughout the patient’s lifetime.

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  Fig. 2. Time courses of absolute neutrophil count (ANC) during hospitalization. G-CSF, granulocyte colony-stimulating factor.

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  Fig. 3. Histopathology of the (A) peripheral blood and (B–D) bone marrow (Wright-Giemsa stain). (A) Neutrophils are present at high magnification (×1,000). (B) Hypercellularity is present at low magnification. Scale bar represents 100 μm. (C) Neutrophils are present at high magnification (×1,000). (D) The granulocytic series are hyperplastic and show a maturation arrest in the myelocyte stage with few segmented neutrophils. Scale bar represents 20 μm.

Reference

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