Aganglionosis and related disorders

Area of Science:

• Gastroenterology
• Pathology
• Pediatric Surgery

Background:

• Hirschsprung's disease (HD) is characterized by congenital aganglionosis, typically affecting the sigmoid colon and rectum.
• Affected bowel segments show increased cholinergic and adrenergic innervation.
• Hirschsprung's-associated enterocolitis (HAEC) is a major cause of morbidity and mortality in HD patients.

Purpose of the Study:

• To review diagnostic methods for Hirschsprung's disease (HD).
• To investigate peptidergic (VIPergic) innervation in HD and pseudo-HD conditions.
• To highlight the role of histopathology in diagnosing HD.

Main Methods:

• Submucosal rectal biopsy for ganglion cell assessment.
• Acetylcholinesterase staining for diagnostic confirmation.
• Review of peptidergic (VIPergic) innervation patterns in HD and pseudo-HD.

Main Results:

• Neonatal HD diagnosis is achieved via rectal biopsy, recognizing immature ganglion cells and using specific stains.
• Total colonic aganglionosis is an HD variant that may present atypically.
• Pseudo-HD conditions like intestinal neuronal dysplasia (IND) and chronic idiopathic intestinal pseudo-obstruction (CIIP) have distinct pathologies.
• Increased VIPergic immunostaining is noted in CIIP, chronic constipation, and the ganglionic portion of HD, but it's not diagnostically selective.

Conclusions:

• Histopathology, particularly rectal biopsy, is the current gold standard for diagnosing Hirschsprung's disease.
• Understanding atypical presentations and differentiating pseudo-HD conditions is crucial for accurate diagnosis and management.
• While VIPergic innervation offers insights, it is not a definitive diagnostic marker for HD.