PEDIATRIC SURGERY NOTES

Hirschsprung Disease

Definition:

Hirschsprung Disease (HD) is a complex genetic disorder of the enteric nervous

system (ENS) which leads to functional intestinal obstruction. HD is the most common
cause of distal intestinal obstruction in the pediatric age group.

Incidence:

1:5000 live births.

Male to female ratio is 4: 1

Pathophysiology:

Neural crest cells are multipotent highly migratory cells that migrate into different body
organs. They migrate to the GIT and differentiate to form the enteric nervous system which
control all aspects of bowel function including absorption, secretion, motility & blood flow
regulation.

Normal motility is primarily under the control of intrinsic neurons. Those neurons are
distributed to 3 nerve plexuses. Submucosal (Meissner) plexus, myenteric (Auerbach)
plexus between longitudinal & circular muscle layer; and the smaller mucosal plexus. The
ENS can work independently off the central nervous system (CNS), so it is given the name
(Second brain).

The extrinsic nerve supply of the GIT is via cholinergic (excitatory) & adrenergic

General Organization of the Gastrointinal Tract

(inhibitory) systems influence the GIT function. In the absence of the ENS, the extrinsic
nervous system is controlling the motility and owing to the cholinergic supply is more
potent it will lead to persistent contraction of the affected part. In Hirschsprung disease, the
ENS is absent and the cholinergic extrinsic supply is thought to predominate the
adrenergic supply resulting in spasticity of the affected segment and functional intestinal
obstruction.

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Pathology:

Gross picture:

Markedly dilated colon with a variable length of distal narrow segment commonly the
rectum with an intermediate transitional segment.

The proximal dilated colon is thick walled.

Histological picture:
 Absence of ganglion cells of the enteric nervous system ENS in the submucosa (Meissner’s plexus) and the
myenteric (Auerbach’s plexus)
 hypertrophy of the nerve fibers
 Hematoxylin Eosin stain H&E is usually used for diagnosis.

Recently immunohistochemistry stains are used in diagnosis of HD like L-Calretinin

and Synaptophysin which are more sensitive.

Clinical features
 HD is a disease of neonates and not uncommonly present later in children.
 Any neonate fails to pass meconium in the first 24-48 hours of life should be considered HD.
 Progressive abdominal distention.
 Bilious or no bilious vomiting
 The anus is dry with no excoriation
 Rectal examination classically revealed an empty rectum with passage of gush of meconium due to rectal
stimulation.

 Rarely in later childhood age:

 Chronic constipation.
 Failure to thrive
 Chronic abdominal distention
 Empty rectum without any fecal impaction.

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Investigations
 Palin x-Ray erect position: diffuse abdominal distention
 Barium enema: revealed distal narrow segment with proximal dilated colon and an intervening transitional cone
like zone.
 Rectal biopsy: taken either at bedside by suction rectal biopsy or surgical transrectal full thickness rectal biopsy.

Barium enema show narrow distal segment, intermediate transitional zone, and proximal megacolon.

The biopsy revealed absence of ganglion cells and hypertrophy of nerve terminals. Recently
immunohistochemistry stains are used for more sensitivity like L- Calretinin and Synaptophysin.

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Differential diagnosis:
(1) Mechanical causes of neonatal intestinal obstruction: intestinal atresia, malrotation, meconium ileus,
meconium plug syndrome, and anorectal malformation.
(2) Functional intestinal obstruction: ileus in cases of prematurity, electrolyte disturbances, and hypothyroidism.
(3) In older children: idiopathic constipation, intestinal neuronal dysplasia (IND), and hypothyroidism.

Treatment

The aim of treatment of HD is to decompress the intestine, to remove the aganglionic

segment, and to restore the continuity of the colon. Colonic washout enemas using 20-30
mL normal saline is started to evacuate the colon and assuring the diagnosis by barium
enema and rectal biopsy.

Cases with sepsis due to enterocolitis should be treated cautiously to avoid

complication and perforation by good hydration, nasogastric tube to decompress the
stomach, and proper antibiotics.

The definitive treatment is three stage procedure:

 Leveling colostomy
 Pull through operation (Swenson, Duhamel,
Soave pull through)
 Closure of colostomy

Recently one stage trans anal

Swenson’s pull through or Soave’s

pull through is done and laparoscopic

assisted trans anal pull through.

Complications
 Enterocolitis
 Anastomotic leak
 Stricture
 Adhesive intestinal obstruction
 Perineal excoriation and fecal incontinence

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