期刊
JOURNAL OF MEDICAL CASE REPORTS
卷 16, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13256-022-03354-2
关键词
Primitive neuroectodermal tumor; Mediastinal tumor; Children; Musculoskeletal manifestations
A rare case of peripheral primitive neuroectodermal tumor in a 4-year-old Albanian girl with an unusual clinical presentation is reported. The diagnosis of primitive neuroectodermal tumor was confirmed through histopathology and immunohistochemical examination. This article highlights the importance of considering other solid tumors in the differential diagnosis when musculoskeletal symptoms are present in children.
Background 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. Case presentation 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-Barre 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. Conclusions 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.
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