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Congenital microvillous inclusion disease presenting as antenatal bowel obstruction
N Kennea1, R Norbury, G Anderson
1Department of Child Health, London, UK. n.kennea@ic.ac.uk
Insights
Prenatal ultrasound suggested bowel obstruction, but the infant had microvillous inclusion disease, a rare congenital enteropathy. This case highlights the importance of considering enteropathies when antenatal diagnoses are not confirmed postnatally.
Area of Science:
- Pediatric Surgery
- Neonatal Medicine
- Gastroenterology
Background:
- Prenatal ultrasound commonly diagnoses fetal intestinal obstruction, aiding in counseling and birth planning.
- Antenatal diagnosis of fetal intestinal obstruction is typically reliable, guiding management strategies.
Observation:
- A male infant born to a diabetic mother presented with antenatal findings suggestive of distal bowel obstruction, including polyhydramnios and dilated bowel loops.
- Postnatal evaluation revealed no clinical or radiological evidence of bowel obstruction, despite initial antenatal suspicions.
Findings:
- The infant was diagnosed with microvillous inclusion disease, a rare congenital enteropathy, after developing collapse and acidosis due to severe stool loss.
- Diagnosis was confirmed via electron microscopy of a small bowel biopsy, identifying the characteristic microvillous abnormalities.
Implications:
- This case underscores the importance of considering congenital enteropathies, such as microvillous inclusion disease, when antenatal ultrasound findings of bowel obstruction are not confirmed postnatally.
- The unique prenatal ultrasound presentation in this microvillous inclusion disease case expands the understanding of its potential antenatal manifestations.
- Early recognition and consideration of rare enteropathies are vital for improving outcomes in neonates with unexplained gastrointestinal symptoms after birth.
Abstract:
Prenatal ultrasound has led to confidence in the antenatal diagnosis of intestinal obstruction allowing counseling and birth planning. We describe a male infant of a diabetic mother who had an antenatal diagnosis of distal bowel obstruction. This baby was subsequently found not to have bowel obstruction, but a congenital enteropathy - microvillous inclusion disease. The antenatal scans had demonstrated polyhydramnios as well as multiple fluid-filled dilated loops of bowel in the fetal abdomen. To our knowledge, similar prenatal ultrasound findings have not been previously described in this condition. The baby was delivered in a pediatric surgical center and postnatally there was no evidence of bowel obstruction either clinically or on abdominal X-ray. This baby initially fed well, but became collapsed and acidotic on his third day, having lost 26% of his birth weight due to excessive stool loss. The diagnosis of microvillous inclusion disease was made by electron microscopy of a small bowel biopsy. Congenital microvillous inclusion disease is a very rare inherited enteropathy with high mortality and morbidity. This condition, and other enteropathies, should be considered in cases in which antenatally diagnosed bowel obstruction is not confirmed after birth.