Small bowel skip segment Hirschprung's disease presenting with perforated Meckel's diverticulum

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Developmental Biology

Background:

• Hirschsprung's disease (HSCR) is a congenital disorder characterized by aganglionosis in the distal bowel.
• Skip segment Hirschsprung's disease (SSHD) is an uncommon variant with interspersed normal and aganglionic intestinal segments.
• The embryological basis for SSHD remains poorly understood.

Observation:

• This report presents a unique case of SSHD occurring in the small intestine.
• The patient also exhibited a concomitant perforated Meckel's diverticulum.
• This co-occurrence presents diagnostic and management challenges.

Findings:

• The case highlights the variability in SSHD presentation, extending beyond the typically affected distal colon.
• The association with Meckel's diverticulum suggests potential shared or interacting developmental pathways.
• A review of existing literature on SSHD is provided to contextualize this rare finding.

Implications:

• This case expands the known spectrum of SSHD and its potential locations within the gastrointestinal tract.
• Understanding SSHD's embryology is crucial for accurate diagnosis and surgical planning.
• Further research into the developmental mechanisms underlying SSHD may reveal insights into enteric nervous system formation.