LIG4综合征临床特点一例报告及文献复习  

Clinical Features and Literature Review of One Case of LIG4 Syndrome

作　　者：付东霞 吴雪[1] 刘晓景 卫海燕[1] FU Dong-xia;WU Xue;LIU Xiao-jing;WEI Hai-yan(Department of Endocrinology,Genetics and Metabolism,Children’s Hospital Affiliated to Zhengzhou University,Henan Children’s Hospital,Zhengzhou Children’s Hospital,Zhengzhou 450000,Henan Province,China)

机构地区：[1]郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院,内分泌遗传代谢科,河南郑州450000

出　　处：《罕少疾病杂志》2025年第2期3-5,共3页Journal of Rare and Uncommon Diseases

摘　　要：目的分析LIG4综合征的临床特点、免疫学、遗传学特点。方法分析一例LIG4综合征病例的临床资料对患儿及其父母进行二代高通量基因测序,结合国内外文献总结该病的临床特点。结果该患儿临床以生长发育迟缓、阴茎短小入院,有小头畸形、生长迟缓、发育迟滞、鸟样面容、细胞免疫缺陷、骨骼畸形、小阴茎、睾丸缺如的特点,垂体MRI提示垂体柄阻断综合征,生长因子、性激素、甲状腺激素缺乏,基因结果显示LIG4基因存在第2外显子c.1406G>A和c.1882delC复合杂合变异,且c.1882delC既往未见报告。结合复习国内外报告的64例临床、免疫学及基因变异位点。结论LIG4综合征临床存在特殊表型及体征,部分患儿可能存在垂体柄阻断,通过对本例病例临床特征及相关文献复习,进一步扩展了LIG4综合征的临床表型及基因谱。Objective To analyze the clinical,immunological and genetic characteristics of LIG4 syndrome.Methods The clinical data of one case of LIG4 syndrome were analyzed,the second generation of high-throughput gene sequencing was performed on the child and his parents,and the clinical characteristics of LIG4 syndrome were summarized by combining with domestic and foreign literatures.Results The patient was clinically admitted with growth retardation and penile shortness,with microcephaly,growth retardation,developmental retardation,bird-like visage,cellular immune deficiency,skeletal deformity,micropenis and testicular absence.Pituitary MRI indicated pituitary stem blocking syndrome,growth factor,sex hormone and thyroid hormone deficiency.Gene results showed that LIG4 gene had A complex heterozygous mutation of the second exon c.1406G>A and c.1882delC,and c.1882delC had not been reported in the past.64 cases of clinical,immunological and genetic variation were reviewed.Conclusion LIG4 syndrome has special clinical phenotype and signs,and some children may have pituitary stalk occlusion.By reviewing the clinical characteristics of this case and related literature,the clinical phenotype and gene profile of LIG4 syndrome are further expanded.

关 键 词：LIG4综合征 垂体柄阻断综合征 LIG4基因 

分 类 号：R72[医药卫生—儿科]