Chen Ling-Ling, He Xiang-Ling, Chen Ke-Ke
Department of Pediatrics, Hunan Provincial People's Hospital/ First Affiliated Hospital of Hunan Normal University, Changsha 410005, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2019 Nov;21(11):1105-1109. doi: 10.7499/j.issn.1008-8830.2019.11.010.
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.
一名11岁女孩被发现面色苍白且贫血，病情逐渐加重达一年。她既往体质较弱，每年右中肺发生3 - 5次肺炎，经抗感染治疗后好转。她和母亲患有先天性聋哑。体格检查显示有贫血貌，无出血、黄疸、肝脾肿大或淋巴结肿大。血常规检查结果显示全血细胞三系减少，正细胞性贫血，骨髓粒细胞系和红细胞系有巨幼样变，原始细胞或转移瘤细胞无明显增多。全外显子测序表明存在GATA2基因中已知的安伯格综合征（ES）致病突变，即c.1084C>T（p.Arg362*）。该女孩最终被诊断为ES，随访期间骨髓增生异常综合征（MDS）进展为急性髓系白血病。ES在临床实践中是一种罕见的常染色体显性遗传的MDS类型，确诊困难。对于不明原因淋巴水肿和先天性耳聋的儿童应考虑ES，并进行基因检测以确诊。
