Neonatal Hypoganglionosis Mimicking Hirschsprung Disease in a Resource-Limited Setting: A Case Report

Neonatal pediatric intestinal pseudo-obstruction (PIPO) is rare and may closely mimic Hirschsprung disease, particularly when caused by enteric neuropathies.

We report the case of an 18-day-old female neonate who presented with delayed passage of meconium, persistent bilious vomiting, progressive abdominal distension, and significant weight loss since birth. Initial imaging demonstrated dilated bowel loops without evidence of mechanical obstruction. A rectal biopsy suggested distal aganglionosis, and a colostomy was performed. Despite anatomically appropriate diversion, the patient continued to have bilious gastric output, abdominal distension, and an inability to tolerate enteral feeds. Further surgical evaluation was therefore undertaken, and multi-level full-thickness intestinal biopsies were obtained. Histopathological analysis revealed a reduced density and abnormal morphology of ganglion cells within the myenteric plexus, consistent with hypoganglionosis, establishing the diagnosis of pediatric intestinal pseudo-obstruction (PIPO).

This case demonstrates how neonatal hypoganglionosis can follow a Hirschsprung-like diagnostic pathway yet fail to respond to diversion, underscoring the limitations of suction biopsy when clinical evolution is discordant with initial histological findings. Prolonged dependence on parenteral nutrition and limited access to advanced therapeutic options further illustrate the challenges of managing severe neonatal PIPO in resource-limited settings.