新生儿原发性先天性淋巴水肿一例报道暨文献复习

Neonatal primary congenital lymphedema: a case report and literature review

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 clinical characteristics of neonatal primary congenital lymphedema（ PCL） to improve the understanding of the disease. Methods Clinical characteristics,laboratory examination and family pedigree of a newborn with PCL were examined and relevant literatures reviewed to summarize the clinical approach. Results A total of four relevant articles with complete data were retrieved and five cases of PCL were reported. Six newborns with PCL（ including the case reported here） were all male and the edema were found at birth. Lower extremities were most affected sites.5 cases with bilateral lower extremities edema,and one case unilateral edema,none of them with impaired leg mobility. Lymphnodes scintigraphic examinations were performed in five patients showing lymphatic flow disorders. The complete blood count,urine routine tests,biochemical tests,thyroid functions and cardiac Doppler ultrasound of the patients were all normal. Conclusions For neonates born with bilateral lower extremities edema,the diagnosis of PCL should be considered and further inquiry about relevant family history is important. Lymphnode scintigraphic examinations should be performed as soon as possible to make a prompt diagnosis.