Case series reports genetic mutations in cystic fibrosis and clinical outcomes for neonates, highlighting surgical needs.
We present a case series describing the management and genetic findings in five neonates with meconium ileus, presenting within 48 h of birth. Whole-exome sequencing identified cystic fibrosis transmembrane conductance regulator mutations in three neonates, confirming cystic fibrosis, with one heterozygous variant of unknown significance. Two ultimately required surgical intervention after failed conservative management. One died of septic shock.
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Angadi et al. (2025) studied this question.
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