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

BACKGROUND

Megacystitis-megacolon-intestinal hypoperistalsis syndrome is a phenotypic variant of visceral neuromuscular dysfunction. Megacystitis-microcolon-intestinal hypoperistalsis syndrome is a recognized entity. However, presentation with megacolon is rarely reported, with only one case documented in association with intestinal neuronal dysplasia (IND) and malrotation.

CASE REPORT: We report such a case of Megacystitis-megacolon-intestinal hypoperistalsis coexisting with IND type B and atypical malrotation in a 2-year-old male, presented with intestinal obstruction. Despite multiple surgical interventions, the patient remained TPN-dependent and eventually succumbed to sepsis. Histopathology evaluation revealed hyperganglionosis, including the presence of immature and giant ganglion cells, which supported the diagnosis of IND type B, alongside the features of visceral myopathy.

CONCLUSION

This case highlights the diagnostic and therapeutic complexity posed by overlapping features of megacolon and MMIHS, especially when hyperganglionosis was present. Our case highlights the need for clinico-pathological correlation and genetic analysis in diagnosing complex pediatric motility disorders.