Institute of Anatomy, Pediatric Clinic, Faculty of Medicine, University of Prishtina, Prishtina, 10000, Kosovo.
Pediatric Clinic, University Clinical Center of Kosovo, Prishtina, 10000, Kosovo.
J Med Case Rep. 2022 Mar 31;16(1):128. doi: 10.1186/s13256-022-03354-2.
Primitive neuroectodermal tumors are extremely rare and highly aggressive malignant small round cell tumors that arise from the primitive nerve cells of the nervous system or outside it. These tumors share similar histology, immunohistologic characteristics, and cytogenetics with Ewing's sarcoma. Peripheral primitive neuroectodermal tumors of the chest wall are rare malignant tumors seen in children and young adults.
We report a rare case of peripheral primitive neuroectodermal tumor in a 4-year-old Albanian girl with a mediastinal tumor and an unusual clinical presentation. She was initially treated for acute polyradiculoneuritis (Guillain-Barré syndrome) owing to pain, weakness in the lower limbs, and walking difficulty, as well as severe irritability. During the second week of treatment, the child began to experience dry cough, chest discomfort, and worsening dyspnea. Chest radiography, chest computed tomography, and contrast-enhanced computed tomography demonstrated a large mass in the right hemithorax that was derived from the posterior mediastinum with expansive growth in all directions and that shifted the mediastinal structures in the anterolateral left direction. Consequently, histopathology and immunohistochemical examination of the markers S-100, CD99, and Ki-67 showed that the tumor cells stained positively for S-100 and CD99. The proliferative index measured by Ki-67 was approximately 20%, which suggested primitive neuroectodermal tumor.
Even though other diseases, including leukemia, lymphoma, and neuroblastoma, may be accompanied by musculoskeletal manifestations in children, other solid tumors, such as peripheral primitive neuroectodermal tumors, should be considered in the differential diagnosis in any child presenting with musculoskeletal symptoms.
原始神经外胚层肿瘤是一种罕见的高度侵袭性恶性小圆细胞肿瘤，起源于神经系统或其外的原始神经细胞。这些肿瘤在组织学、免疫组织化学特征和细胞遗传学方面与尤因肉瘤相似。胸壁外周原始神经外胚层肿瘤是一种罕见的儿童和青年期恶性肿瘤。
我们报告了一例 4 岁阿尔巴尼亚女孩的罕见病例，她患有纵隔肿瘤，临床表现不典型。最初，她因下肢疼痛、无力和行走困难以及严重的烦躁不安而被诊断为急性多神经根炎（格林-巴利综合征）。在治疗的第二周，患儿开始出现干咳、胸部不适和呼吸困难加重。胸部 X 线摄影、胸部计算机断层扫描和增强计算机断层扫描显示，右胸腔有一个大肿块，来源于后纵隔，向各个方向扩张生长，将纵隔结构推向左侧前外侧。因此，对标记物 S-100、CD99 和 Ki-67 的组织病理学和免疫组织化学检查显示，肿瘤细胞 S-100 和 CD99 染色阳性。Ki-67 测量的增殖指数约为 20%，提示为原始神经外胚层肿瘤。
尽管其他疾病，包括白血病、淋巴瘤和神经母细胞瘤，在儿童中可能伴有肌肉骨骼表现，但对于任何出现肌肉骨骼症状的儿童，在鉴别诊断中应考虑其他实体瘤，如外周原始神经外胚层肿瘤。
