Megacystis-Megacolon-Intestinal Hypoperistalsis Syndrome with Intestinal Neuronal Dysplasia: Expanding the Phenotypic...

Area of Science:

• Pediatric Gastroenterology
• Neuromuscular Disorders
• Gastrointestinal Motility

Background:

• Megacystitis-megacolon-intestinal hypoperistalsis syndrome is a rare variant of visceral neuromuscular dysfunction.
• While megacystitis-microcolon-intestinal hypoperistalsis syndrome is recognized, megacolon presentation is seldom reported, often linked to intestinal neuronal dysplasia (IND) and malrotation.

Purpose of the Study:

• To report a rare case of coexisting Megacystitis-megacolon-intestinal hypoperistalsis syndrome, IND type B, and atypical malrotation.
• To highlight the diagnostic and therapeutic complexities of overlapping gastrointestinal motility disorders in pediatrics.

Main Methods:

• Case report of a 2-year-old male presenting with intestinal obstruction.
• Clinical evaluation, surgical interventions, and histopathological analysis including assessment of ganglion cells.

Main Results:

• The patient exhibited symptoms of intestinal obstruction due to Megacystitis-megacolon-intestinal hypoperistalsis, IND type B, and atypical malrotation.
• Histopathology revealed hyperganglionosis with immature and giant ganglion cells, confirming IND type B and visceral myopathy features.
• Despite interventions, the patient remained TPN-dependent and succumbed to sepsis.

Conclusions:

• This case emphasizes the diagnostic and therapeutic challenges of concurrent megacolon and MMIHS, particularly with hyperganglionosis.
• Highlights the critical need for clinico-pathological correlation and genetic analysis in diagnosing complex pediatric motility disorders.