右肺缺如并右位心尸体解剖1例及文献复习

Right lung agenesis and dextrocardia: one autopsy case report and review of literature

目的探讨先天性肺缺如和右位心的发病率、病因及发病机制、临床病理所见及诊断。方法报告经尸检证实的右肺缺如并右位心1例,并复习近期相关文献。结果患儿为出生32天女婴。因口吐白沫、呼吸急促伴口唇发绀1天入院,经抢救无效死亡。尸检主要病变包括:1先天性右肺缺如(包括右肺动脉分支和右肺静脉)并新生儿肺炎(左肺);2伴内脏正位的真性(镜像)右位心。结论婴幼儿肺缺如并右位心是一种极其罕见的先天性畸形。肺缺如临床表现为典型的呼吸道症状,极易误(漏)诊。右位心需与模拟右位心、假性右位心等鉴别。X线、CT、MRI、支气管镜和超声心动图检查有助于肺缺如和右位心的诊断。

Purpose To investigate the incidence, etiology and pathogenesis, clinicopathological findings and the diagnosis of congenital lung agenesis and dextroeardia. Methods One case of autopsy-confirmed right tung agenesis and dextroeardia was reported and recent relative literature was reviewed. Results The patient was a 32 days baby girl. She was admitted to hospital because of foaming at the mouth, shortness of breath associated with cyanotic lips for 1 day. She died the same day because of rescue invalid. According to the autopsy findings, the main lesions included： （1）Neonatal congenital right pulmonary agenesis （absence of the right pulmonary veins and right branch of the pulmonary artery） with neonatal pneumonia （left lung）; （2）Neonatal true （mirror-image） dextrocardia with situs solitus. Conclusions Neonatal lung agenesis and the dextrocardia is an extremely rare congenital malformation. Clinical manifestations of the lung agenesis are typical respiratory symptoms, such as cough, recurrent respiratory infections, cyanosis, tachypnea, respiratory distress and asthma etc. It is very easy to be misdiagnosed or missed diagnosis. The dextrocardia need to be distinguished from mimicking dextrocardia and pseudodextrocardia. For congenital lung agenesis and the dextrocardia, clinicians should have a concept and diagnostic awareness. X-ray, CT, MRI, bronchoscopy and echocardiography examination are helpful to the diagnosis of the lung agenesis and the dextrocardia.