2025 年第 5 期 第 20 卷

Epstein综合征1例并文献复习

Epstein syndrome: a case report and literature review

作者：肖群1马健娟2杨玉婷1金皎2黄璟2

英文作者：Xiao Qun1 Ma Jianjuan2 Yang Yuting1 Jin Jiao2 Huang Jing2

单位：1贵州医科大学，贵阳561113；2贵州医科大学附属医院儿童血液科，贵阳550001

英文单位：1Guizhou Medical University Guiyang 561113 China; 2Department of Pediatric Hematology the Affiliated Hospital of Guizhou Medical University Guiyang 550001 China

关键词：Epstein综合征；非肌性肌球蛋白重链9基因；基因缺陷；骨髓细胞学检查

英文关键词：Epsteinsyndrome;Non-musclemyosinheavychain9gene;Genedefect;Bonemarrowcytologyexamination

• 摘要：

• Epstein综合征是伴血小板减少、非肌性肌球蛋白重链9（MYH9）相关疾病的一种，是由于编码非肌性肌球蛋白重链ⅡA蛋白的MYH9基因缺陷引起。临床常见的表现为血小板减少所致的出血，经输血、免疫治疗后血小板恢复情况不明显，在诊治过程中应结合细胞形态及基因检测结果尽早诊断，避免延诊及误诊。本文回顾性分析1例Epstein综合征患儿的临床资料及基因检测结果并复习相关文献，以期进一步提高对Epstein综合征的认识。患儿男，2岁，临床无明显出血表现，血常规提示血小板减少，外周血涂片及骨髓细胞学检查均可见巨血小板，未发现中性粒细胞包涵体，基因测序结果为MYH9基因突变，外显子c.287C>T(p.Ser96Leu)，临床诊断为Epstein综合征，父母基因检测为正常野生型。针对确诊时临床症状不完全的患者，需将相关并发症及共患病明确告知。目前对于本病尚无明确有效治疗方法，临床已有非血缘造血干细胞移植治疗，疗效尚不明确，大多数患儿需定期复诊及随访。

• Epstein syndrome is a non-muscle myosin heavy chain 9 (MYH9)-related disease with thrombocytopenia. It is caused by defects in the MYH9 gene, which encodes the non-muscle myosin heavy chain ⅡA protein. The common clinical manifestation is bleeding caused by thrombocytopenia, and the platelet recovery is not obvious after blood transfusion and immunotherapy. In the process of diagnosis and treatment, the diagnosis should be made as soon as possible according to the cell morphology and gene detection results to avoid delayed diagnosis and misdiagnosis. In this paper, the clinical data and genetic test results of a child with Epstein syndrome were retrospectively analyzed, and the related literature was reviewed to further improve the understanding of Epstein syndrome. The patient was a 2-year-old boy with no clinical manifestations of bleeding. Routine blood test showed thrombocytopenia, and the peripheral blood smear and bone marrow cytology showed giant platelets without neutrophil inclusion bodies. Gene sequencing showed a MYH9 gene mutation, exon c.287C>T(p.Ser96Leu). The patient was clinically diagnosed with Epstein syndrome, and his parents were normal wild type. For patients with incomplete clinical symptoms at the time of diagnosis, relevant complications and comorbidities should be clearly informed. At present, there is no clear and effective treatment for this disease, and unrelated hematopoietic stem cell transplantation has been used in clinical treatment, but the efficacy is not clear. Most children need to be followed up regularly.