2.6 - Case progression
The baby was seen by General Surgery, Genetics and Pediatric Pulmonology at 1 month old (36 completed weeks corrected gestational age). At that time he had received no respiratory support for several days. An MRI of his thorax and abdomen (Figure 4) showed bilateral posterior DE with associated near-complete collapse of bilateral lower lobes of the lungs. Of note, there was elevation of his abdominal contents including kidneys, stomach, and bowel being present in his posterior thorax. The right chest mass seen on CT was confirmed to be a malpositioned right kidney. There was no evidence of a diaphragmatic hernia on MRI. Respiratory support was re-initiated based on intermittent respiratory distress, worsening respiratory acidosis on blood gas analysis and the MRI findings suggesting persistent bilateral lower lobe atelectasis. He was switched from oral to continuous nasojejunal (NJ) feeds given his higher risk of aspiration from the combination of elevated bowel and persistent work of breathing. Other investigations included Upper Gastrointestinal Series (UGI) which ruled out malrotation. Genetic investigations were also sent including comparative genomic hybridization and Whole Exome Sequencing (WES), which were unremarkable.
Figure 4: MRI of Thorax and abdomen A) Coronal respiratory gated HASTE image of the posterior diaphragm: Elevated right and left posterior hemidiaphragms with a thin membrane above subdiaphrenic fat, characteristic of eventrations. The left kidney and sigmoid colon are elevated but lie below the diaphragmatic membrane. The right kidney is elevated but below the diaphragmatic membrane.