Two cases of cytopenia associated with multiple malformations
10.7499/j.issn.1008-8830.2311058
- VernacularTitle:血细胞减少伴多发畸形2例
- Author:
Li-Xian CHANG
1
;
Li ZHANG
;
Yi-Man GAO
;
Xiao-Fan ZHU
Author Information
1. 中国医学科学院血液病医院(中国医学科学院血液学研究所)/实验血液学国家重点实验室/国家血液系统疾病临床医学研究中心/细胞生态海河实验室,天津 300020;天津医学健康研究院,天津 301600
- Keywords:
Cytopenia;
Malformation;
Fanconi anemia;
LIG4 syndrome;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(4):410-413
- CountryChina
- Language:Chinese
-
Abstract:
The first patient,a 10-year-old girl,presented with pancytopenia and recurrent epistaxis,along with a history of repeated upper respiratory infections,café-au-lait spots,and microcephaly.Genetic testing revealed compound heterozygous mutations in the DNA ligase Ⅳ(LIG4)gene,leading to a diagnosis of LIG4 syndrome.The second patient,a 6-year-old girl,was seen for persistent thrombocytopenia lasting over two years and was noted to have short stature,hyperpigmented skin,and hand malformations.She had a positive result from chromosome breakage test.She was diagnosed with Fanconi anemia complementation group A.Despite similar clinical presentations,the two children were diagnosed with different disorders,suggesting that children with hemocytopenia and malformations should not only be evaluated for hematological diseases but also be screened for other potential underlying conditions such as immune system disorders.[Chinese Journal of Contemporary Pediatrics,2024,26(4):410-4131
