This segment produces functional obstruction to the bowel, resulting in constipation. The history dates back to birth, and the child always needs some assistance in the form of enemas or suppositories for effective bowel movement. These children have distended abdomen and failure to thrive, if they have not been evacuated on regular basis in the past. The diagnosis is confirmed clinically with a per-rectal examination, which results in an explosive passage of flatus and faeces on withdrawing the finger. The diagnosis can be confirmed by a barium enema and a rectal biopsy.
Treatment is surgical and usually staged.
Some of the babies with Hirschsprung s disease may present with enterocolitis and septicaemia. The per-rectal examination findings again are similar to the classical case and suggest the true underlying pathology. The mortality rate in these babies presenting with enterocolitis is high and they should be immediately referred to a paediatric surgeon. A cretin has typical appearance along with delayed milestones which makes diagnosis easy. Treatment would naturally involve hormone supplementation but may also need proper bowel evacuation if the bowel has accumulated large amounts of faecal matter.