Ataollahi Maryam, Mashhadiagha Amirali, Karbasian Fereshteh, Moshfeghinia Reza, Arabpour Javad, Geramizadeh Bita
Department of Pediatric Gastroenterology, Shiraz University of Medical Sciences, Shiraz, Iran.
Shiraz Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Case Rep Gastrointest Med. 2024 Dec 12;2024:3648155. doi: 10.1155/crgm/3648155. eCollection 2024.
Esophageal embryonal rhabdomyosarcoma (ERMS), a rare pediatric cancer, mimicked achalasia in a case involving dysphagia and vomiting. Diagnosis and chemotherapy necessitate careful monitoring due to potential complications. A 12-year-old girl with no prior medical history presented with progressive dysphagia and vomiting. Initial diagnosis suggested achalasia, but further evaluation revealed a large mediastinal mass causing esophageal compression. Biopsies confirmed primary ERMS of the esophagus with metastases. Despite chemotherapy, she developed complications, including neutropenic enterocolitis and posterior reversible encephalopathy syndrome (PRES). Unfortunately, she succumbed to neutropenic sepsis. In this case study, we presented our experience regarding the clinical course of this disease, treatment strategy, and prognosis, in addition to the limited previous information in the literature.
食管胚胎性横纹肌肉瘤(ERMS)是一种罕见的儿童癌症,在一例涉及吞咽困难和呕吐的病例中表现类似贲门失弛缓症。由于存在潜在并发症,诊断和化疗都需要仔细监测。一名无既往病史的12岁女孩出现进行性吞咽困难和呕吐。初步诊断提示为贲门失弛缓症,但进一步评估发现一个巨大的纵隔肿块压迫食管。活检证实为原发性食管ERMS伴转移。尽管进行了化疗,她仍出现了并发症,包括中性粒细胞减少性小肠结肠炎和后部可逆性脑病综合征(PRES)。不幸的是,她死于中性粒细胞减少性败血症。在本病例研究中,除了文献中有限的既往信息外,我们还介绍了我们关于该疾病临床过程、治疗策略和预后的经验。