Rare Case of a Newborn with Scimitar Syndrome, Congenital Diaphragmatic Hernia, Pulmonary Sequestration and Bronchogenic Cyst

Keywords: scimitar, congenital diaphragmatic hernia, pulmonary sequestration, newborn

Background and Conclusions: 

Scimitar syndrome is a rare variant of total anomalous pulmonary venous return with an incidence of 1 to 3 per 100,000 live births. Congenital diaphragmatic hernia (CDH) which is estimated to occur in approximately 1 in 3500 live births and has a mortality rate of 30%.

Summary

We present the case of a term male born with a prenatally diagnosed right sided CDH who was subsequently discovered to have scimitar syndrome, bronchogenic cyst and intralobar pulmonary sequestration on 3D CT reconstruction of the chest and abdomen. Corrective surgery was performed on day 6 of life via subcostal incision with CDH repair including reduction of the liver and right kidney, scimitar vein ligation and resection of intralobar pulmonary sequestration. The surgery was performed with significant care as the hernia sac was fused to the liver and right lung. The patient recovered in the NICU and was discharged on post- operative day 11 in stable condition. Follow up at 12 months demonstrated no impairment of growth or development.

Conclusions

CDH, when present, is a significant cause of neonatal morbidity and mortality. Likewise, scimitar syndrome can often result in a dismal prognosis. Significant emphasis lies on achieving cardiopulmonary stabilization in these patients in order to minimize the effects of pulmonary hypertension, hypoxemia and hypercapnia. This unique case presents further insight regarding the procedure employed for the concomitant diagnosis of these anomalies and their safe and effective management. Further cases’ data is needed to draw definitive conclusions regarding best management of these unique patients.