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.