Management of tooth extraction in a patient with ELANE gene mutation-induced cyclic neutropenia: A case report

Abstract

Introduction: Cyclic neutropenia (CyN) is a rare hematological disease, and patients with CyN often experience an early onset of severe periodontitis and are forced to undergo tooth extraction. Here, we report a case of a patient with CyN who showed different periodicity and oscillations of neutrophil count compared with her mother, despite sharing the same novel genetic mutation.

Patient concerns: A 17-year-old Japanese girl who had been diagnosed with CyN shortly after birth presented to our hospital with a complaint of mobility of her teeth and gingivitis. Upon presentation, an intraoral examination was performed and revealed redness and swelling of the marginal and attached gingiva. Radiographs revealed extreme resorption of the alveolar bone and apical lesions in her mandibular lateral incisors. The patient's hematologic data demonstrated a lack of blood neutrophils (0/μL). The patient had no history of dental extraction, and her mother also had a history of CyN.

Diagnoses: The patient was diagnosed with severe periodontitis that was associated with CyN. Gene testing showed a novel heterozygous mutation in exon 4 of the ELANE gene (c.538delC, p.Leu180Ser fsX11).

Interventions: Based on the clinical findings, we planned to extract the patient's mandibular lateral incisors. Although the tooth extraction was scheduled considering the cyclic variation in neutrophil count, the patient's neutrophil count was 0/μL on the day before the planned extraction. Therefore, granulocyte-colony stimulating factor (G-CSF) was administered to increase the patient's neutrophil count. On the day of the patient's admission for the tooth extraction, she presented with fever (body temperature, 38.5°C), tonsillitis, and stomatitis. The extraction was subsequently delayed, and the patient was administered antibiotics and G-CSF for 4 days. At this time, the neutrophil count increased to 750/μL, and the tooth extraction was carried out safely.

Outcomes: The postoperative course was uneventful, and the healing process at the extraction site was excellent.

Conclusion: There is a possibility that the periodicity and oscillations of neutrophil count may change with growth in patients with CyN. Therefore, it is important to frequently examine and treat patients with fluctuating neutrophil levels for the management of invasive dental treatment in patients with CyN.

Figure 1

Intraoral view showing redness and swelling of the marginal and attached gingiva.

Figure 2

(A) Panoramic radiograph showing extreme resorption of alveolar bone. (B) Dental radiograph demonstrating apical lesions in teeth #32 and #42 (yellow arrows).

Figure 3

Changes in the WBC, neutrophils, lymphocytes, and monocytes over the course of 3 months. (A) The 17-year-old patient's neutrophil counts appeared to cycle between the range of 0 and 1400/μL, and the monocyte counts show an inverse cycle when compared to the neutrophil counts. (B) The neutrophil counts of the patient's 46-year-old mother did not appear to oscillate, and they ranged between 60 and 120/μL. Lymph = lymphocyte, Mono = monocyte, Neutro = neutrophil, WBC = white blood cell.

Figure 4

Oral manifestations on admission. A photo of the patient's oral cavity shows tonsillitis and stomatitis.

Figure 5

The clinical course after admission. The patient presented with severe neutropenia and an infection with herpes zoster one day before her admission. On the day of admission, she developed a fever that was accompanied by tonsillitis and stomatitis. The clinical symptoms improved after antibiotic and antiviral therapy. The neutrophil count increased to 750/μL after the administration of G-CSF for 4 days. On the fourth day of admission, the extraction of two teeth was carried out safely. BT = body temperature, CRP = C-reactive protein, G-CSF = granulocyte-colony stimulating factor, Lymph = lymphocyte, MEPM = meropenem hydrate, Mono = monocyte, Neutro = neutrophil, WBC = white blood cell.

Figure 6

DNA sequence analysis of the ELANE gene. Note that both the patient (A) and her mother (B) carry the same mutation (c.538delC, p.Leu180Ser fsX11).