Two cases of cytopenia associated with multiple malformations
CHANG Li-Xian, ZHANG Li, GAO Yi-Man, ZHU Xiao-Fan
Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College/State Key Laboratory of Experimental Hematology/National Clinical Research Center for Blood Diseases/Haihe Laboratory of Cell Ecosystem, Tianjin 300020, China (Email: changlixian@ihcams.ac.cn)
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.
O'Driscoll M, Cerosaletti KM, Girard PM, et al. DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency[J]. Mol Cell, 2001, 8(6): 1175-1185. PMID: 11779494. DOI: 10.1016/s1097-2765(01)00408-7.
Buck D, Moshous D, de Chasseval R, et al. Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV[J]. Eur J Immunol, 2006, 36(1): 224-235. PMID: 16358361. DOI: 10.1002/eji.200535401.
Levran O, Diotti R, Pujara K, et al. Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study[J]. Hum Mutat. 2005, 25(2): 142-149. PMID: 15643609. DOI: 10.1002/humu.20125.
O'Driscoll M, Ruiz-Perez VL, Woods CG, et al. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome[J]. Nat Genet, 2003, 33(4): 497-501. PMID: 12640452. DOI: 10.1038/ng1129.
McKay MJ, Craig J, Kalitsis P, et al. A Roberts syndrome individual with differential genotoxin sensitivity and a DNA damage response defect[J]. Int J Radiat Oncol Biol Phys, 2019, 103(5): 1194-1202. PMID: 30508616. DOI: 10.1016/j.ijrobp.2018.11.047.
WANG Cai-Yun, XU Hong-Mei, LIU Gang, LIU Jing, YU Hui, CHEN Bi-Quan, ZHENG Guo, SHU Min, DU Li-Jun, XU Zhi-Wei, HUANG Li-Su, LI Hai-Bo, WANG Dong, BAI Song-Ting, SHAN Qing-Wen, ZHU Chun-Hui, TIAN Jian-Mei, HAO Jian-Hua, LIN Ai-Wei, LIN Dao-Jiong, WU Jin-Zhun, ZHANG Xin-Hua, CAO Qing, TAO Zhong-Bin, CHEN Yuan, ZHU Guo-Long, XUE Ping, TANG Zheng-Zhen, SU Xue-Wen, QU Zheng-Hai, ZHAO Shi-Yong, PANG Lin, DENG Hui-Ling, SHU Sai-Nan, CHEN Ying-Hu. A multi-center epidemiological study on pneumococcal meningitis in children from 2019 to 2020[J]. CJCP, 2024, 26(2): 131-138.
