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Complicated meconium ileus in a male neonate with cystic fibrosis: Case report
Mohamed Sellouti1,2, Aomar Agadr1,2, Rachid Abilkassem1,2
1Neonatology Division. Departement of Pediatrics, Mohammed V Military Teaching Hospital, Rabat, Morocco.
Insights
Meconium ileus (MI) can be the initial indicator of cystic fibrosis (CF) in newborns. This case shows a premature infant with complex MI, emphasizing early CF diagnosis and management.
Area of Science:
- Neonatology
- Pediatric Surgery
- Medical Genetics
Background:
- Meconium ileus (MI) is a significant indicator of cystic fibrosis (CF), affecting 10%-15% of CF cases.
- CF is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Early diagnosis and intervention are crucial for managing intestinal obstruction in neonates.
Observation:
- A 5-day-old premature infant presented with clinical signs consistent with meconium ileus.
- Conservative treatments, including gastrografin enema, were unsuccessful.
- Exploratory laparotomy revealed a typical meconium ileus, necessitating an ileostomy for manual meconium evacuation.
Findings:
- Elevated immunoreactive trypsinogen (IRT) levels (≥1300 µg/L) confirmed suspicion of CF.
- The infant commenced oral pancreatic enzyme replacement therapy.
- The infant demonstrated normal growth and development post-discharge.
Implications:
- This case underscores the critical role of recognizing meconium ileus as a potential early sign of cystic fibrosis in premature infants.
- Prompt surgical intervention and initiation of CF-specific therapies can lead to favorable outcomes.
- Highlights the importance of specialized CF care and primary care follow-up for infants with complex neonatal presentations.
Abstract:
In about 10%-15% of instances, meconium ileus (MI) is the first sign of cystic fibrosis (CF). If a newborn exhibits signs of intestinal obstruction and does not pass meconium within a short period of time after birth, MI is suspected. The cystic fibrosis transmembrane conductance regulator gene (CFTR), which is found on chromosome 7q31, is mutated in CF patients. A premature baby, 5 days old, with clinical signs that were typical of MI. These attempts failed in spite of conservative therapies, such as rectal injection of gastrografin. An ileostomy was made and meconium was manually evacuated after an exploratory laparotomy revealed the presence of a typical MI. At ≥1300 µg/L (reference value ≤1000 µg/L), immunoreactive trypsinogen (IRT) levels were increased, which prompted the start of oral pancreatic enzyme replacement treatment. Discharge at 65 days of age included referrals to primary care and a specialized CF clinic. The baby has since shown normal growth and development. This case highlights the rapid onset of CF in a premature infant with complex MI as the initial clinical presentation.
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