Situs Inversus Totalis in the Neonatal Setting

Abstract

Situs inversus totalis (SIT) is a rare condition of complete inversion and mirroring of normal human anatomy. The incidence is approximately 1 in 8,000 to 1 in 25,000 live births. SIT is inherited in an autosomal recessive pattern and is associated with multiple gene mutations. It is also commonly seen in a condition known as primary ciliary dyskinesia. A 39-year-old pregnant woman presented to the Labor and Delivery unit to rule out pre-eclampsia due to high blood pressure recordings in the office setting. The infant was delivered preterm at 36 weeks gestation via spontaneous vaginal delivery. The infant presented with symptoms of respiratory distress. The newborn was transferred to the neonatal intensive care unit (NICU) for further work-up and to rule in/rule out an etiology known as Wet Lung. Upon retrieving a chest X-ray for the newborn, the results demonstrated situs inversus totalis. The newborn was transferred to a level III NICU for further management and work-up for other potential etiologies. Situs inversus totalis was not seen on prenatal work-up. In summary, situs inversus totalis is a rare condition which can be associated with other detrimental conditions. In the future, if situs inversus totalis is detected in utero, patients should be instructed to deliver in a setting in which any possible etiology can be accommodated. Pediatricians should follow these infants closely and with caution as common presentations may be obscured due to complete inversion of normal human anatomy. It is also important to screen these infants for other etiologies which may present in later developmental stages such as bronchiectasis and respiratory infections.

Keywords: kartagener syndrome; primary ciliary dyskinesia; situs inversus totalis; situs inversus with dextrocardia.

Figure 1. Chest X-ray of the infant suggesting situs inversus totalis