Fahmy Alexander N, Everingham Margaux, Kim Chris, Kumar Ameet
Pediatrics, Drexel University College of Medicine, Philadelphia, USA.
Cardiology, University of Pittsburgh Medical Center, Harrisburg, USA.
Cureus. 2025 Jun 10;17(6):e85684. doi: 10.7759/cureus.85684. eCollection 2025 Jun.
Chronic nonbacterial osteomyelitis (CNO) is a rare, autoinflammatory bone disorder that primarily affects children and adolescents. It typically presents with localized bone pain and lacks systemic symptoms, making diagnosis difficult. Radiologic features often mimic malignant or infectious etiologies, contributing to delays in diagnosis and the use of unnecessary invasive procedures. We report the case of a 5-year-old female patient with a history of sickle cell trait who presented with intermittent left arm pain. The initial physical examination was unremarkable, and symptoms were attributed to benign musculoskeletal causes. However, persistent symptoms over a five-month period prompted further evaluation. Radiographs revealed a permeative lesion in the humerus with areas of sclerosis and lucency, along with a multilayered periosteal reaction. Magnetic resonance imaging (MRI) showed an enhancing intraosseous lesion with cortical breakthrough and periosteal edema, raising concerns for malignancy, including osteosarcoma and Ewing sarcoma. Laboratory studies showed elevated erythrocyte sedimentation rate (ESR) and mildly increased C-reactive protein (CRP), but other results were unremarkable. Given the imaging findings and concerning differential diagnoses, a computed tomography (CT)-guided bone biopsy was performed. Histopathology confirmed chronic inflammatory changes consistent with CNO, and no evidence of neoplasia or infection was found. Whole-body magnetic resonance imaging revealed no other lesions. The patient was referred to pediatric rheumatology and began treatment with methotrexate, selected due to the lesion size and risk of pathologic fracture. The patient showed marked clinical improvement and returned to baseline function within six months. CNO, also referred to as chronic recurrent multifocal osteomyelitis in its multifocal form, remains underrecognized due to its vague symptoms and radiologic similarity to more ominous pathologies. Biopsy often plays a critical role in excluding malignancy. CNO can be unifocal or multifocal and is associated with other autoimmune conditions such as inflammatory bowel disease, psoriasis, and juvenile idiopathic arthritis. Given the patient's family history of ulcerative colitis, long-term monitoring is warranted. The condition predominantly affects female individuals and typically presents between the ages of 7 and 12. Treatment focuses on anti-inflammatory and immunomodulatory therapies. While nonsteroidal anti-inflammatory drugs are first-line agents, second-line therapies such as methotrexate, tumor necrosis factor inhibitors, corticosteroids, and bisphosphonates may be needed in more severe or refractory cases. CNO is a rare but clinically significant pediatric condition that can mimic malignancy and cause considerable diagnostic anxiety. Awareness among clinicians, particularly regarding atypical presentations such as unifocal disease in very young children, is essential to avoid unnecessary procedures and initiate early effective treatment. A multidisciplinary approach is often required for accurate diagnosis and optimal management.
慢性非细菌性骨髓炎(CNO)是一种罕见的自身炎症性骨病,主要影响儿童和青少年。其典型表现为局部骨痛,且无全身症状,这使得诊断困难。放射学特征常类似于恶性或感染性病因,导致诊断延迟并使用不必要的侵入性检查。我们报告一例5岁女性患者,有镰状细胞性状病史,出现间歇性左臂疼痛。初次体格检查无异常,症状归因于良性肌肉骨骼原因。然而,五个月来症状持续,促使进一步评估。X线片显示肱骨有一渗透性病变,伴有硬化和透亮区,以及多层骨膜反应。磁共振成像(MRI)显示一强化的骨内病变,伴有皮质突破和骨膜水肿,引发对恶性肿瘤的担忧,包括骨肉瘤和尤文肉瘤。实验室检查显示红细胞沉降率(ESR)升高,C反应蛋白(CRP)轻度升高,但其他结果无异常。鉴于影像学表现及相关鉴别诊断,进行了计算机断层扫描(CT)引导下的骨活检。组织病理学证实为符合CNO 的慢性炎症改变,未发现肿瘤或感染证据。全身磁共振成像未发现其他病变。该患者转诊至儿科风湿病科,因病变大小及病理性骨折风险,开始使用甲氨蝶呤治疗。患者临床症状明显改善,六个月内恢复至基线功能。CNO,其多灶形式也称为慢性复发性多灶性骨髓炎,由于其症状模糊且放射学表现与更严重的疾病相似,仍未得到充分认识。活检在排除恶性肿瘤方面通常起关键作用。CNO 可为单灶性或多灶性,与其他自身免疫性疾病如炎症性肠病、银屑病和幼年特发性关节炎有关。鉴于患者有溃疡性结肠炎家族史,需要长期监测。该病主要影响女性,通常发病年龄在7至12岁之间。治疗重点是抗炎和免疫调节疗法。虽然非甾体抗炎药是一线药物,但在更严重或难治性病例中可能需要二线疗法,如甲氨蝶呤、肿瘤坏死因子抑制剂、皮质类固醇和双膦酸盐。CNO 是一种罕见但具有临床意义的儿科疾病,可模仿恶性肿瘤并引起相当大的诊断焦虑。临床医生提高认识,特别是对于非常年幼儿童的单灶性疾病等非典型表现,对于避免不必要的检查并启动早期有效治疗至关重要。准确诊断和最佳管理通常需要多学科方法。