Objective To study chest computed tomography (CT) manifestations in neonates with chronic granulomatous disease (CGD) to provide clues for early diagnosis of this disease. Methods A retrospective analysis was conducted on the clinical data and chest CT scan results of neonates diagnosed with CGD from January 2015 to December 2022 at Anhui Provincial Children's Hospital. Results Nine neonates with CGD were included, with eight presenting respiratory symptoms as the initial sign. Chest CT findings included: consolidation in all 9 cases; nodules in all 9 cases, characterized by multiple, variably sized scattered nodules in both lungs; masses in 4 cases; cavities in 3 cases; abscesses in 6 cases; bronchial stenosis in 2 cases; pleural effusion, interstitial changes, and mediastinal lymphadenopathy each in 1 case. CT enhancement scans showed nodules and masses with uneven or ring-shaped enhancement; no signs of pulmonary emphysema, lung calcification, halo signs, crescent signs, bronchiectasis, or scar lesions were observed. There was no evidence of rib or vertebral bone destruction. Fungal infections were present in 8 of the 9 cases, including 6 with Aspergillus infections; three of these involved mixed infections with Aspergillus, with masses most commonly associated with mixed Aspergillus infections (3/4). Conclusions The primary manifestations of neonatal CGD on chest CT are consolidation, nodules, and/or masses, with Aspergillus as a common pathogen. These features can serve as early diagnostic clues for neonatal CGD.
Key words
Chronic granulomatous disease /
Computed tomography /
Aspergillus /
Neonate
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
1 Chiu TL, Leung D, Chan KW, et al. Phenomic analysis of chronic granulomatous disease reveals more severe integumentary infections in X-linked compared with autosomal recessive chronic granulomatous disease[J]. Front Immunol, 2022, 12: 803763. PMID: 35140711. PMCID: PMC8818666. DOI: 10.3389/fimmu.2021.803763.
2 Wu J, Wang WF, Zhang YD, et al. Clinical features and genetic analysis of 48 patients with chronic granulomatous disease in a single center study from Shanghai, China (2005-2015): new studies and a literature review[J]. J Immunol Res, 2017, 2017: 8745254. PMID: 28251166. PMCID: PMC5303869. DOI: 10.1155/2017/8745254.
3 Godoy MC, Vos PM, Cooperberg PL, et al. Chest radiographic and CT manifestations of chronic granulomatous disease in adults[J]. AJR Am J Roentgenol, 2008, 191(5): 1570-1575. PMID: 18941103. DOI: 10.2214/AJR.07.3482.
4 Bondioni MP, Lougaris V, Di Gaetano G, et al. Early identification of lung fungal infections in chronic granulomatous disease (CGD) using multidetector computer tomography[J]. J Clin Immunol, 2017, 37(1): 36-41. PMID: 27766541. DOI: 10.1007/s10875-016-0342-x.
5 Justiz-Vaillant AA, Williams-Persad AF, Arozarena-Fundora R, et al. Chronic granulomatous disease (CGD): commonly associated pathogens, diagnosis and treatment[J]. Microorganisms, 2023, 11(9): 2233. PMID: 37764077. PMCID: PMC10534792. DOI: 10.3390/microorganisms11092233.
6 Seidel MG, Kindle G, Gathmann B, et al. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity[J]. J Allergy Clin Immunol Pract, 2019, 7(6): 1763-1770. PMID: 30776527. DOI: 10.1016/j.jaip.2019.02.004.
7 Hansell DM, Bankier AA, MacMahon H, et al. Fleischner society: glossary of terms for thoracic imaging[J]. Radiology, 2008, 246(3): 697-722. PMID: 18195376. DOI: 10.1148/radiol.2462070712.
8 Douglas AP, Smibert OC, Bajel A, et al. Consensus guidelines for the diagnosis and management of invasive aspergillosis, 2021[J]. Intern Med J, 2021, 51 Suppl 7: 143-176. PMID: 34937136. DOI: 10.1111/imj.15591.
9 Husain S, Camargo JF. Invasive aspergillosis in solid-organ transplant recipients: guidelines from the American Society of Transplantation Infectious Diseases Community of Practice[J]. Clin Transplant, 2019, 33(9): e13544. PMID: 30900296. DOI: 10.1111/ctr.13544.
10 Yoo YJ, Sun JS, Lee JH, et al. Atypical presentation of chronic granulomatous disease in a neonate with a pulmonary granuloma mimicking a tumor: a case report[J]. Taehan Yongsang Uihakhoe Chi, 2020, 81(4): 990-995. PMID: 36238165. PMCID: PMC9432210. DOI: 10.3348/jksr.2020.81.4.990.
11 Yao Q, Zhou QH, Shen QL, et al. Imaging findings of pulmonary manifestations of chronic granulomatous disease in a large single center from Shanghai, China (1999-2018)[J]. Sci Rep, 2020, 10(1): 19349. PMID: 33168948. PMCID: PMC7652842. DOI: 10.1038/s41598-020-76408-4.
12 Jana M, Sinha P, Garg P, et al. Imaging findings in chronic granulomatous disease (CGD)[J]. Indian J Pediatr, 2024, 91(3): 242-247. PMID: 36454508. DOI: 10.1007/s12098-022-04350-6.
13 沈艳华, 靳绯, 吴海兰, 等. 新生儿慢性肉芽肿病11例临床表现及基因特征分析[J]. 中华新生儿科杂志（中英文）, 2023, 38(10): 621-625. DOI: 10.3760/cma.j.issn.2096-2932.2023.10.009.
14 黄丽莲, 陈洁琳, 李英乔, 等. 新生儿期起病慢性肉芽肿病临床与基因分析[J]. 临床儿科杂志, 2023, 41(6): 464-469. DOI: 10.12372/jcp.2023.22e0232.
15 Miladinovic M, Wittekindt B, Fischer S, et al. Case report: symptomatic chronic granulomatous disease in the newborn[J]. Front Immunol, 2021, 12: 663883. PMID: 33854515. PMCID: PMC8039294. DOI: 10.3389/fimmu.2021.663883.
16 刘辉, 李惠民, 刘金荣, 等. 慢性肉芽肿病临床及早期诊断分析[J]. 中华儿科杂志, 2021, 59(9): 777-781. PMID: 34645219. DOI: 10.3760/cma.j.cn112140-20210426-00348.
17 Greene RE, Schlamm HT, Oestmann JW, et al. Imaging findings in acute invasive pulmonary aspergillosis: clinical significance of the halo sign[J]. Clin Infect Dis, 2007, 44(3): 373-379. PMID: 17205443. DOI: 10.1086/509917.
18 Abd Elaziz D, El Hawary R, Meshaal S, et al. Chronic granulomatous disease: a cohort of 173 patients-10-years single center experience from Egypt[J]. J Clin Immunol, 2023, 43(8): 1799-1811. PMID: 37433991. PMCID: PMC10661789. DOI: 10.1007/s10875-023-01541-4.
19 Yao Q, Zhou QH, Shen QL, et al. Imaging characteristics of pulmonary BCG/TB infection in patients with chronic granulomatous disease[J]. Sci Rep, 2022, 12(1): 11765. PMID: 35817807. PMCID: PMC9273607. DOI: 10.1038/s41598-022-16021-9.
PDF(2551 KB)
