Pediatric Surgery Unit, Department of Surgery, University Malaya Medical Center, Kuala Lumpur, Malaysia.
Clin Anat. 2010 May;23(4):455-9. doi: 10.1002/ca.20949.
A baby girl with prenatal diagnosis of complex cardiac anomalies and diaphragmatic hernia was born at 36 weeks of gestation. At 4 hr of life, the baby developed respiratory distress and was intubated. She was found to have right hetetrotaxy with total anomalous pulmonary venous drainage into the portal vein, five hepatic veins draining the liver and intrathoracic herniation of the stomach. The child also developed abdominal distension on the second day of life with passage of scanty meconium. The diagnosis of Hirschsprung's disease (HD) was confirmed by histology. HD in association with right heterotaxy has not been reported earlier. The association of heterotaxy with HD in our patient raises a possible genetic link between the two anomalies that needs further research.
一名产前诊断患有复杂心脏畸形和膈疝的女婴于 36 周时出生。生后 4 小时，患儿出现呼吸窘迫，行气管插管。检查发现患儿存在右位心异构，伴有完全性肺静脉异常引流至门静脉，5 支肝静脉引流肝脏，胸腔内胃疝出。患儿生后第 2 天出现腹胀，仅排出少量胎粪。组织学检查确诊为先天性巨结肠（HD）。此前尚未有报道称右位心异构与 HD 相关。本病例中 HD 与异构心的关联提示这两种畸形之间可能存在遗传联系，需要进一步研究。
