Bota Sofia, Alves Pedro, Constantino Claudia, Maia Raquel
Women, Child and Adolescents Department, Hospital Dona Estefania, Lisboa, Portugal.
Radiology Department, Hospital Dona Estefania, Lisboa, Portugal.
BMJ Case Rep. 2019 Apr 29;12(4):e227653. doi: 10.1136/bcr-2018-227653.
Hypereosinophilic syndromes are rare in children. Sporadic, mild-severity FIP1L1-platelet-derived growth factor receptor α (PDGFRα) rearrangement cases have been reported, mainly in boys. We present the case of a 5-year-old girl referred from her African country of birth, due to severe constitutional symptoms, multifocal bone pain, headache, gastrointestinal complaints, cardiomyopathy and unexplained hypereosinophilia. She presented multiple end-organ diseases and striking bone involvement. Although she had a positive serology for , extensive evaluation detected a FIP1L1-PDGFRA fusion gene. Systemic corticosteroids and low-dose imatinib were started and the child became asymptomatic. After 9 months of treatment, FIP1L1-PDGFRA was no longer detected.
嗜酸性粒细胞增多综合征在儿童中较为罕见。曾有散发的轻度至重度FIP1L1-血小板衍生生长因子受体α（PDGFRα）重排病例的报道，主要见于男孩。我们报告了一名5岁女孩的病例，她从出生的非洲国家转诊而来，有严重的全身症状、多灶性骨痛、头痛、胃肠道不适、心肌病和不明原因的嗜酸性粒细胞增多。她出现了多种终末器官疾病和明显的骨骼受累。尽管她的血清学检查呈阳性，但广泛评估发现了FIP1L1-PDGFRA融合基因。开始使用全身性皮质类固醇和低剂量伊马替尼治疗后，患儿症状消失。治疗9个月后，未再检测到FIP1L1-PDGFRA。
