One 7 months old female child presented with distension of abdomen and intermittent enterocolitis since birth. When I saw the child, she was weighing 4.3 kg which was far less than expected weight for her age. Her abdomen was distended with gas and I could see visible bowel loops. After doing per rectal examination, when I removed my finger, there was gush of liquid stool came with explosion.
This is typical of what it is called as Hirschsprung's disease. In this disease, there is problem in the innervation of part or whole large intestine or rarely extending small intestine. There is absence of ganglion cells in the affected part of intestine (Ganglion cells are required for proper peristalsis of intestine). The child presents with delayed passage of meconium, enterocolitis and distension of abdomen in the neonatal period while chronic constipation and distension of abdomen are presenting features in the older children.
Barium enema & full thickness rectal biopsy are the modalities of diagnosis. Treatment is decompression with colostomy and later pull through procedure or primary pull through procedure.