PATHOPHYSIOLOGY Hirschprung’s disease or congenital aganglionic megacolon is a b

owel obstruction resulting to absence of ganglion cells in the myenteric plexus.

It is named after Harald Hirschsprung, the Danish physician who first described
the disease in 1886, describing two infants who had died with swollen bellies.
The ganglion cells reside in the adrenal medulla and are involved in the SNS rel
ease of epinephrine and norepinephrine. They are special nerve cells in the inte
stine that makes the muscles push stool to the anus. The myenteric plexus is a m
ajor nerve supply in the GI system which controls GIT motility where the ganglio
n cells enter. It is has two kinds namely-- Auerbach’s plexus and Meissner’s ple
xus. Auerbach’s plexus provides motor innervations plus secretomotor for PNS and
SNS while Meissner’s plexus works parasympathetically only. However, failure of
the ganglion cells to migrate in the craniocaudal area results to absent gangli
on cells in the myenteric’s plexuses in the submucosa. Parasympathetic innervati
on is depressed which results to uninterrupted colonic, usually rectosigmoid, co
ntraction. Decreased PNS stimulation signifies inadequate expression of synaptic
neurotransmitter, Ach and NO. Due to absence of ganglion cells in the myenteric
plexus, especially Meissner’s plexus, there is an increase in synaptic activity
of acetylcholinesterase, an enzyme which degrades acetylcholine activity and a
decrease of nitric oxide, an enzyme responsible for the relaxation of smooth mus
cles in the endothelium in the recto-sigmoid segment. Both of these factors inhi
bit relaxation of the contracted segments. These strings of events will result t
o an ineffective peristaltic movement that causes impaction of stool in the larg
e intestines. Bowel distention also results from impaction of feces and flatus.
The abdominal distention and fecal impaction will result to intestinal perforati
on and constipation. Moreover, it will cause bacterial overgrowth in the intesti
nes and mucosal irritation of the linings of the intestines that may result to c
omplications such as enterocolitis and diarrhea, which is the most common compli
cation. If left untreated, hypovolemic shock will follow.
Absence of Ganglion Cells in Myenteric Plexuses
Inadequate expression of PNS stimulation (↑acetylcholinesterase, ↓NO)
Inhibits relaxation of contracted segment
Ineffective peristaltic movement
Bowel distention 2o to fecal stagnation and gas
Bacterial Overgrowth
Mucosal Irritation
Perforation
Constipation
Enterocolitis and Diarrhea (most common complication)