Presentation of high ano-rectal malformation beyond neonatal period

Area of Science:

• Pediatric Surgery
• Congenital Malformations
• Neonatal Care

Background:

• Anorectal malformation (ARM) represents a spectrum of congenital anomalies affecting the terminal portion of the gastrointestinal tract.
• Early diagnosis is typical, often within the neonatal period, due to visible external abnormalities or associated symptoms.
• Delayed presentation can occur, potentially leading to missed diagnoses and complications.

Observation:

• A male infant with high anorectal malformation (ARM) presented at 45 days of age.
• The infant did not exhibit significant abdominal distension, a common sign in neonatal intestinal obstruction.
• Absence of septicaemia indicated no overt systemic infection at the time of presentation.

Findings:

• This case demonstrates a delayed recognition of high ARM in a male neonate.
• The clinical presentation was atypical, lacking the expected signs of severe neonatal illness.
• The diagnosis was established beyond the immediate newborn period.

Implications:

• Highlights the importance of considering anorectal malformation even in neonates presenting beyond the typical diagnostic window.
• Suggests that atypical presentations of ARM can occur, necessitating a high index of suspicion in pediatric evaluations.
• Underscores the need for thorough assessment in infants with non-specific gastrointestinal complaints to ensure timely diagnosis and management of congenital anomalies.