From the Guidelines
Meconium ileus at birth is a strong indicator of cystic fibrosis, a genetic disorder that affects the exocrine glands, with approximately 15-20% of children with cystic fibrosis presenting with this condition at birth. This condition occurs when thick, sticky meconium obstructs the small intestine, particularly the terminal ileum, and is usually diagnosed at birth, often requiring surgical intervention to correct the obstruction 1. The presence of meconium ileus is diagnostic of cystic fibrosis, and screening does not increase early detection for these children. Key characteristics of meconium ileus include:
- Intestinal obstruction present at birth
- Usually requires surgery to correct
- Associated with long-term adverse outcomes, such as malnutrition, lung disease, and mortality
- Comparable rates of adverse outcomes to children detected later based on clinical symptoms 1. Management of meconium ileus typically involves surgical intervention to relieve the obstruction, followed by comprehensive testing to confirm cystic fibrosis diagnosis, including sweat chloride testing and genetic analysis. Early diagnosis is crucial as it allows for prompt initiation of treatments that can significantly improve long-term outcomes for affected children.
From the Research
Meconium Ileus at Birth
Meconium ileus (MI) at birth is a condition where the meconium, the first stool of a newborn, is thick and dry, causing a bowel blockage, most commonly in the terminal ileum 2. This condition can be simple or complex, with simple MI being managed clinically with contrast enemas, while complex MI requires surgical intervention 2, 3.
Indications of Meconium Ileus
The presence of meconium ileus at birth can indicate several things, including:
- Cystic fibrosis (CF), as MI occurs in approximately 90% of cases with CF 2
- Bowel obstruction, which can lead to distention of the proximal bowel, bowel wall thickening, and distal microcolon 2
- Increased risk of complications, such as bowel necrosis, perforation, peritonitis, strictures, and/or volvulus, especially if left untreated 2, 4
- Potential for delayed diagnosis, as some cases may not present with apparent symptoms shortly after birth 4
Risk Factors
Several risk factors are associated with meconium ileus, including:
- Prematurity and low birth weight 5
- Caesarean delivery 5
- Maternal MgSO4 therapy 5
- Maternal diabetes 5
- Family history of CF 3
Diagnosis and Treatment
Diagnosis of meconium ileus is typically made through a combination of clinical presentation, radiographic modalities, and genetic testing 2, 3. Treatment options vary depending on the complexity of the condition, but may include: