先天性聋哑患儿伴面色苍白、贫血1年

Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl

1病例介绍(1)病史:患儿女,11岁,因发现面色苍白、贫血1年入院。1年前因咳嗽20余天,加重伴发热5 d就诊我院,无头晕、乏力,无咯血、呕血及黑便。查体无贫血貌,无肝脾大,无杵状指。查血常规示Hb 91 g/L(参考值:113~151g/L),叶酸、维生素Bu正常,地中海贫血基因筛查为基因型aa/aapN/pN,未予特殊处理。

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.1084 C>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.