Van Woensel Julie, Leers Mathie Pg, Mostard Remy Lm
Department of Pulmonology, Zuyderland Medical Center, Heerlen, the Netherlands.
Department of Clinical Chemistry & Hematology, Zuyderland Medical Center, Heerlen, the Netherlands.
Eur J Case Rep Intern Med. 2022 Jul 11;9(7):003423. doi: 10.12890/2022_003423. eCollection 2022.
Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder resulting in phagocytic cell dysfunction. It is characterized by deficient cellular immunity against bacteria and fungi, and an excessive inflammatory response resulting in granuloma formation. It manifests, usually in early childhood, with recurrent bacterial and fungal infections or inflammatory complications. The infections, such as invasive pulmonary aspergillosis, can be life-threatening.
Our patient was a 40-year-old man with no pulmonary history who presented with bilateral pulmonary nodules and pronounced eosinophilia in peripheral blood and bronchoalveolar lavage fluid, mimicking eosinophilic pneumonia. During treatment with corticosteroids, the patient deteriorated clinically and radiographically. Extensive investigations failed to provide a diagnosis. A lung biopsy demonstrated the presence of granulomas and hyphae. Advanced screening to detect underlying immunodeficiency revealed CGD.
This case report describes a unique first presentation of CGD. It reminds physicians of the possibility of CGD as an underlying immune disorder in invasive aspergillosis and highlights the challenges of diagnosing invasive pulmonary aspergillosis. We discuss the diagnostic pitfalls of this case and propose a diagnostic work-up for eosinophilic lung disease.
Pulmonary aspergillosis can present as eosinophilic pneumonia and should be included in the differential diagnosis of eosinophilic lung disease.In case of invasive pulmonary aspergillosis, investigation for chronic granulomatous disease should be considered.Chronic granulomatous disease in adults is probably underdiagnosed because of its variable clinical presentations.
慢性肉芽肿病（CGD）是一种罕见的免疫缺陷疾病，可导致吞噬细胞功能障碍。其特征是针对细菌和真菌的细胞免疫缺陷，以及导致肉芽肿形成的过度炎症反应。该病通常在儿童早期发病，表现为反复的细菌和真菌感染或炎症并发症。诸如侵袭性肺曲霉病等感染可能危及生命。
我们的患者是一名40岁男性，无肺部病史，表现为双侧肺结节，外周血和支气管肺泡灌洗液中嗜酸性粒细胞显著增多，类似嗜酸性粒细胞性肺炎。在使用皮质类固醇治疗期间，患者的临床症状和影像学表现均恶化。广泛检查未能明确诊断。肺活检显示存在肉芽肿和菌丝。进一步筛查潜在免疫缺陷发现了慢性肉芽肿病。
本病例报告描述了慢性肉芽肿病一种独特的首发表现。它提醒医生，慢性肉芽肿病可能是侵袭性曲霉病的潜在免疫疾病，并强调了诊断侵袭性肺曲霉病的挑战。我们讨论了该病例的诊断陷阱，并提出了嗜酸性粒细胞性肺病的诊断检查方法。
肺曲霉病可表现为嗜酸性粒细胞性肺炎，应列入嗜酸性粒细胞性肺病的鉴别诊断。对于侵袭性肺曲霉病，应考虑对慢性肉芽肿病进行检查。由于临床表现多样，成人慢性肉芽肿病可能未得到充分诊断。
