Khalid Muhammad, Ali Syed Asad
Aga Khan University Hospital, Karachi.
J Pak Med Assoc. 2018 Sep;68(9):1387-1390.
Chronic granulomatous disease (CGD) is the most common of the primary immunodeficiency in children. It is caused by single gene defect resulting in dysfunctional nicotinamide adenine dineucleotide phosphate (NADPH) oxidase complex causing recurrent bacterial and fungal infections. Here we present the case of a 9 year old boy who was a known case of CGD since three years of age. He presented with recent history of fever, left sided pain in the scapular region and difficulty in breathing. Chest imaging revealed developing left upper lobe consolidation and erosion of the 3rd posterior rib. The child underwent video assisted thoracoscopic surgery (VATS) and biopsy of the lesion. Histopathology revealed fungal hyphae which were confirmed to be Aspergillus nidulans on staining. He was successfully treated with voriconazole therapy. We will also review the literature on fungal osteomyelitis in CGD patients.
慢性肉芽肿病（CGD）是儿童最常见的原发性免疫缺陷病。它由单基因缺陷引起，导致烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶复合体功能失调，从而引发反复的细菌和真菌感染。在此，我们报告一例9岁男孩的病例，该男孩自3岁起就被诊断为CGD。他近期出现发热、左侧肩胛区疼痛及呼吸困难。胸部影像学检查显示左上叶实变，并伴有第三后肋侵蚀。该患儿接受了电视辅助胸腔镜手术（VATS）及病变活检。组织病理学检查发现真菌菌丝，经染色证实为构巢曲霉。他接受伏立康唑治疗后获得成功。我们还将回顾关于CGD患者真菌性骨髓炎的文献。
