An 11-year-old girl was found to have pale complexion and anemia with gradual aggravation for one year. She was weak in the past and developed pneumonia in the right middle lung 3-5 times per year, which was improved after anti-infective therapy. She and her mother had congenital deaf-mutism. Physical examination showed the appearance of anemia, without bleeding, jaundice, hepatosplenomegaly, or lymph node enlargement. Routine blood test results showed reductions in all three blood cell lines, normocytic anemia, and megaloblastoid change in granulocytic and erythroid cell lines in bone marrow, with no obvious increase in primitive cells or metastatic tumor cells. Whole exome sequencing indicated the presence of a known pathogenic mutation for Emberger syndrome (ES), c.1084C>T (p.Arg362*) in the GATA2 gene. The girl was finally diagnosed with ES, and myelodysplastic syndrome (MDS) progressed to acute myeloid leukemia during follow-up. ES is a rare type of MDS with autosomal dominant inheritance in clinical practice, and it is difficult to make a confirmed diagnosis. ES should be considered for children with unexplained lymphedema and congenital deafness, and gene detection should be performed to make a confirmed diagnosis.
患儿女，11岁，发现面色苍白、贫血逐渐加重1年，既往体质较弱，每年约3~5次右中肺肺炎病史，予抗感染治疗后可好转。患儿及其母亲均为先天性聋哑。体格检查可见贫血貌，无出血、黄疸、肝脾大和淋巴结肿大等表现，血常规提示三系减少，为正细胞性贫血，骨髓中粒红系有巨幼样变，未见明显原始细胞增多及其他转移瘤细胞，全外显子组测序提示存在已知ES致病突变：GATA2基因c.1084C > T（p.Arg362*）。该患儿最终确诊为ES，随访发现由MDS最终转化为AML。ES为罕见的常染色体显性遗传MDS，临床不多见，诊断较困难。建议对不明原因淋巴水肿、先天性耳聋，要警惕ES可能，应进一步完善相关基因检查明确诊断。