# An Unusual Case of Situs Inversus in a Premature Neonate

## TL;DR

A premature baby with a rare condition called situs inversus is reported, highlighting the importance of early diagnosis and genetic testing.

## Contribution

The case presents a rare instance of isolated situs inversus with novel genetic findings not previously linked to laterality defects.

## Key findings

- The neonate had situs inversus totalis with dextrocardia and no pleural effusion or pneumothorax.
- Genetic testing revealed likely pathogenic variants in LAMA2 and NDUFAF5, not typically associated with laterality defects.
- The case emphasizes the need for comprehensive genetic testing to identify potential neuromuscular or metabolic disorders.

## Abstract

Situs inversus, also known as a mirror image, is the transposition of all major organs in the body from left to right. Situs inversus totalis is a rare condition characterized by the complete inversion and mirroring of organs, including the cardia, lungs, and all abdominal contents. It follows an autosomal recessive pattern of inheritance, with an incidence of approximately one in 8,000 live births. Early prognosis is important due to the risk of complications associated with this syndrome. In this case report, we will examine a premature infant with isolated situs inversus, which was discovered postnatally.

A male neonate was delivered via vaginal delivery at 33 weeks and three days of gestation to a 32-year-old G1P1 mother. Membranes were ruptured for 22 days, the amniotic fluid was clear, and the presentation was compound. Birth weight was 2.385 kg, with Apgar scores of 6 and 7 at one and five minutes, respectively. Treatment at delivery included positive pressure ventilation (PPV) via mask, positive end expiratory pressure (PEEP) (neopuff), and gastric suction. The patient was admitted immediately to a level 3 neonatal intensive care unit (NICU) following delivery for preterm respiratory distress. Chest X-ray chest/abdomen showed mild hyperinflation of both lungs, with perihilar streakiness present. Dextrocardia with situs inversus totalis was noted. There was no pleural effusion or pneumothorax. There was mild dextrocurvature of the lower thoracic spine. The tip of the orogastric (OG) tube is seen to project over the mid-gastric body. The findings may represent transient tachypnea of the newborn (TTN).

This case highlights the significance of early identification of situs inversus in neonates when presenting with respiratory distress. While Kartagener's syndrome is a common condition associated with situs inversus, not every patient will exhibit the complete triad or have recognizable genetic variants associated with primary ciliary dyskinesia. In this case, genetic testing identified likely pathogenic variants in LAMA2 and NDUFAF5, neither of which is associated with laterality defects, suggesting the patient's situs inversus is likely idiopathic. Additionally, it highlights the importance of comprehensive genetic testing to rule out known causes of isolated situs inversus, identify incidental yet potentially significant findings, and inform ongoing monitoring for potential neuromuscular or metabolic disorders.