目的探讨新生儿原发性先天性淋巴水肿的临床特点,以提高对本病的认识。方法分析新生儿原发性先天性淋巴水肿1例患儿的临床表现、辅助检查、家系关系,结合以往新生儿先天性淋巴水肿的文献报道,总结该病的临床诊断思路。结果共检索到相关文献5篇,病例报道4篇,论著1篇,选择资料完整的文献4篇,共计5例患儿。本例及文献报道共6例患儿,均为男婴,水肿均于生后即出现,且以下肢为主,其中5例患儿为双下肢水肿,1例为单侧下肢水肿,均无肢体活动障碍。5例患儿行淋巴结核素扫描,结果均提示淋巴回流障碍。患儿的血、尿常规、生化、甲状腺功能、心脏彩超等均无明显异常。结论对于生后即出现下肢水肿的患儿应考虑新生儿原发性先天性淋巴水肿的可能,需追问家族遗传病史,尽早行淋巴结核素检查,以便及时发现并诊断本病。 Objective To explore the clinical features of neonatal primary congenital lymphedema to improve the understanding of the disease. Methods The clinical manifestations, auxiliary examinations and pedigree relationships of neonates with primary congenital lymphedema (1) were analyzed, and the literature of congenital lymphedema in neonates was analyzed. The clinical diagnosis of this disease was summarized. Results A total of 5 articles were retrieved, 4 cases were reported and 1 was published. There were 4 articles with complete data, a total of 5 cases. This case and the literature reported a total of 6 cases of infants, all male infants, edema occurred after birth, and to the lower limbs, of which 5 cases of children with edema of both lower extremities, 1 case of unilateral lower extremity edema, none Physical activity disorders. 5 cases of children with lymph node scan, the results were prompted lymphatic drainage disorders. Children’s blood, urine, biochemical, thyroid function, echocardiography, etc. were no significant abnormalities. Conclusion For children with lower extremity edema after birth should consider the possibility of neonatal congenital lymphedema need to ask the family history of genetic disease, as early as possible lymph node nuclide examination in order to detect and diagnose the disease in time.