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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.
Insights
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.
Abstract:
Anorectal malformations are usually diagnosed at birth, and the diagnosis is usually readily apparent in boys and girls by direct inspection of the perineal region. However, some of the less complex lesions, often referred to as 'low lesions', such as rectovestibular fistula in girls, may not be diagnosed at birth. These children are able to pass meconium, and it is only when the narrow fistula fails to pass formed stool later in infancy or childhood does the child become symptomatic. It is important to emphasise that the diagnosis of these defects should be made during neonatal predischarge examination. Such a delayed diagnosis may change their management, complicate surgical repair and may contribute to both functional and psychological problems for the patient and family.
