Cantrell五联症新生儿一例并文献复习

Abstract

患儿出生后即发现“胸外心”入院，母亲妊娠期有糖尿病、孕早期感冒，无贫血、妊娠高血压综合征、心脏病等疾病，无家族遗传及代谢性疾病。入院查体：胸骨下端至脐部皮肤变薄，长约6 cm，见一膨出物约2 × 2.5 cm2规律搏动，皮肤颜色较周围皮肤颜色深，脐部位置偏高，腹部平坦。B超和CT诊断结果显示，该患儿胸骨缺损、心包部分缺损、膈肌前部缺损、脐上腹壁中线缺如伴心脏膨出、心血管畸形，因此明确诊断为完全Cantrell五联症。患儿为部分心脏异位，属于常见的胸腹型心脏异位。Cantrell五联症是临床上一种罕见的先天性畸形疾病，临床手术难度大，患儿生存率低。产前超声筛查对早期发现及诊断该病具有重要意义。 The patient had been discovered with ectopia cordis after birth. His mother’s history of pregnancy and childbirth were as follows: having diabetes, early pregnancy with “catching cold”, no anemia, no pregnancy hypertension syndrome, no heart disease and other diseases. In addition, there were no metabolic diseases and familial hereditary. Physical examination on admission showed the following. The patient’s skin from the bottom of the sternum to the umbilicus was thinner than that of the surrounding, and the skin was about 6 cm; it can be seen that a bulging about 2 × 2.5 cm2 was regularly pulsing, and the color of the skin was deeper than that of the surrounding skin; the position of the umbilical region was high, and the abdomen was flat. Moreover, ultrasound and CT diagnosis revealed that the patient had sternal defect, pericardium defect, anterior diaphragmatic defect, midline deficiency of epigastric wall of the umbilicus, cardiovascular abnormalities; therefore the child was diagnosed as completely pentalogy of Cantrell. The child was partly heterotopic of the heart, which is a common thoracic and abdominal type of heart ectopia. Pentalogy of Cantrell is currently a clinically rare congenital mal-formation disease, thus clinical surgery is difficult and the survival rate is low. And prenatal ultrasound screening is of great significance for the early detection and diagnosis of the disease.