早产儿多染色体异常合并先天性白血病1例

A case of multiple chromosome abnormality and congenital leukemia in a premature infant

目的通过具体病例分析,提高对先天性白血病的认识。方法通过回顾1例多染色体异常并先天性白血病(M7)早产儿诊断过程,结合相关文献,对先天性白血病(M7)特点加以总结。结果新生儿,女,因窒息,腹部明显膨隆入院。患儿先天愚型面容,肝脾肿大,外周血白细胞高,见大量原始及幼稚细胞,骨髓检查巨核细胞系异常增生,以原始巨核细胞为主,流式细胞分型CD33+,CD41a+,染色体检查47,XX,-16,+20,+21[10],临床主要诊断为先天性髓系白血病(M7),21-三体综合征。结论 CL的诊断主要依靠外周血和骨髓象检查,染色体检测以及细胞表型分析等实验室检查。

Objective To raise awareness of congenital leukemia through specific case analysis. Methods Summarize The characteristics of congenital leukemia(M7) through retrospective analysis in the diagnosis process of 1 case of congenital leukemia(M7). Results A newborn, female baby was presented to Dalian Maternity Hospital for asphyxia and distended abdomen. Facial features of Down syndrome and hepatosplenomegaly were found in physical examination. CBC result suggested leukocytosis(lots of blasts). A large number of megakaryocytes was found in bone marrow smear. CD33 +, CD41 a +cells were found in cell phenotypic analysis. Analysis of the karyotype showed 47,XX, 16-, + 20, 21 + [10]. Clinical diagnosis was congenital myeloid leukemia(M7), Down Syndrome. Conclusion The diagnosis of CL relies mainly on peripheral blood and bone marrow examination, chromosome detection, cell phenotypic analysis.