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Meconium is not enough: look for the hole!
Basher Aldeiri1, Navroop Singh Johal, Paolo De Coppi
1Department of General Surgery, Great Ormond Street Hospital, UCL Institute of Child Health, London, UK.
BMJ Case Reports
|December 22, 2012
Summary
Anorectal malformations are typically diagnosed at birth. However, subtle defects like rectovestibular fistulas may be missed, leading to delayed diagnosis and complications.
Area of Science:
- Pediatric Surgery
- Neonatal Medicine
- Medical Diagnostics
Background:
- Anorectal malformations (ARMs) are congenital anomalies often identified during newborn physical exams.
- Most ARMs present obvious diagnostic challenges in neonates.
- Less complex ARMs, such as rectovestibular fistulas, can be subtle.
Observation:
- Some low-type ARMs, particularly rectovestibular fistulas in females, may not be diagnosed at birth.
- Infants with these undiagnosed defects may pass meconium initially.
- Symptoms arise later in infancy or childhood when the fistula obstructs formed stool.
Findings:
- Delayed diagnosis of anorectal malformations can occur, especially with low-type lesions.
- Missed diagnoses can complicate surgical repair and treatment plans.
- Late identification impacts functional outcomes and psychological well-being for patients and families.
Implications:
- Neonatal predischarge examinations are critical for identifying all anorectal malformations.
- Early diagnosis is essential to prevent complications and ensure optimal surgical and functional results.
- Timely diagnosis mitigates long-term functional and psychological challenges associated with anorectal malformations.
