Double zonal aganglionosis in long segment Hirschsprung's disease with a "skip area" in transverse colon

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Developmental Biology

Background:

• Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
• Aganglionosis typically affects the rectum and sigmoid colon, but can extend proximally to varying degrees.
• Extensive intestinal aganglionosis, particularly involving the terminal ileum, is exceptionally uncommon.

Purpose of the Study:

• To present a unique case of extensive intestinal aganglionosis in an infant.
• To illustrate a rare pattern of Hirschsprung's disease involving the terminal ileum and sparing the midtransverse colon.
• To contribute to the understanding of the spectrum of intestinal aganglionosis.

Main Methods:

• Case report detailing clinical presentation, diagnostic findings, and surgical management.
• Histopathological examination of resected intestinal segments to confirm absence of ganglion cells.
• Radiological imaging to delineate the extent of aganglionosis.

Main Results:

• The infant presented with symptoms consistent with distal intestinal obstruction.
• Surgical and pathological findings confirmed Hirschsprung's disease affecting the rectum, entire colon, cecum, appendix, and terminal ileum.
• A notable finding was the sparing of the midtransverse colon segment.

Conclusions:

• This case highlights an unusual and extensive manifestation of Hirschsprung's disease.
• The sparing of the midtransverse colon in this context is a rare pathological finding.
• Such detailed case reports are crucial for documenting the full spectrum of intestinal aganglionosis and informing clinical practice.