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 study the c1inica1 characteristics of neonata1 primary congenita1 1ymphedema ( PCL) to improve the understanding of the disease. Methods C1inica1 characteristics, 1aboratory examination and fami1y pedigree of a newborn with PCL were examined and re1evant 1iteratures reviewed to summarize the c1inica1 approach. Results A tota1 of four re1evant artic1es with comp1ete data were retrieved and five cases of PCL were reported. Six newborns with PCL (inc1uding the case reported here)were a11 ma1e and the edema were found at birth. Lower extremities were most affected sites. 5 cases with bi1atera1 1ower extremities edema, and one case uni1atera1 edema, none of them with impaired 1eg mobi1ity. Lymphnodes scintigraphic examinations were performed in five patients showing 1ymphatic f1ow disorders. The comp1ete b1ood count, urine routine tests, biochemica1 tests, thyroid functions and cardiac Dopp1er u1trasound of the patients were a11 norma1. Conclusions For neonates born with bi1atera1 1ower extremities edema, the diagnosis of PCL shou1d be considered and further inquiry about re1evant fami1y history is important. Lymphnode scintigraphic examinations shou1d be performed as soon as possib1e to make a prompt diagnosis.
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