Hirschsprung Disease

(a.k.a Congenital Aganglionic

Megacolon)

• A developmental disorder of the

enteric nervous system, characterized by
the absence of ganglion cells in the
submucosal and myenteric plexus

• Most common cause of lower intestinal

obstruction in neonates,with an overall
incidence of 1 in 5,000 live births

• Male : female ratio is 4 : 1

• May be associated with other

congenital defects, including trisomy 21,
Joubert syndrome, Goldberg-Shprintzen
syndrome, etc.
Pathophysiology:
Normal motility is primarily under the control of intrinsic neurons.

Three nerve plexuses innervate the intestine:

1. the submucosal (Meissner) plexus
2. the myenteric (Auerbach) plexus (between the longitudinal and
circular muscle layers)
3. the smaller mucosal plexus

Without the myenteric and submucosal plexus,

there is inadequate relaxation of the bowel wall
and bowel wall hypertonicity, which can lead to
intestinal obstruction.
Genetic defects have been identified in multiple genes that encode proteins of
the RET signaling pathway (RET, GDNF, and NTN) and involved in the
endothelin (EDN) type B receptor pathway (EDNRB, EDN3, and EVE-1).
 Absence of ganglion cells

Marked increase in EXTRINSIC NEURAL

AFFERENTS

The activity of both the cholinergic system and the

adrenergic system is 2-3 times that of normal
intestine.

With the loss of the intrinsic enteric relaxing

impulses, the increased muscle tone is
unopposed.

Imbalance of smooth muscle contractility,

uncoordinated peristalsis, and a functional
obstruction.
Clinical Manifestations
• usually diagnosed in the
neonatal period secondary
to:

 distended abdomen
 failure to pass meconium
 bilious emesis or aspirates
with feeding intolerance
Hirschsprung disease in older patients must be distinguished from other
causes of abdominal distention and chronic constipation.
• history often reveals constipation starting in infancy that has
responded poorly to medical management

• abdomen is tympanitic and distended, with a large fecal mass

palpable in the left lower abdomen

• Rectal examination- demonstrates a normally placed anus that

easily allows entry of the finger but feels snug

• In older patients, the Currarino triad must be considered,

which includes:
▫ anorectal malformations (ectopic anus, anal stenosis, imperforate anus)
▫ sacral bone anomalies (hypoplasia, poor segmentation)
▫ presacral anomaly (anterior meningoceles, teratoma, cyst)
DIAGNOSIS
• Rectal suction biopsy is the gold standard
for diagnosing Hirschsprung disease.

• To avoid obtaining biopsies in the normal area of hypoganglionosis,

which ranges from 3-17 mm in length, the suction rectal biopsy
should be obtained no closer than 2 cm above the dentate line.

▫ Patients with aganglionosis demonstrate a large number of

hypertrophied nerve bundles that stain positively for
acetylcholinesterase with an absence of ganglion cells.
• Anorectal manometry evaluates the internal anal
sphincter while a balloon is distended in the
rectum.
▫ In healthy people, distention initiates relaxation of the internal anal
sphincter in response to rectal distention.
▫ In patients with Hirschsprung disease, the internal anal sphincter
fails to relax in response to rectal distention.
Barium enema examination
- is useful in determining the
extent of aganglionosis
before surgery
- can also be therapeutic and used
in evaluating other diseases that
manifest as lower bowel
obstruction in a neonate.
TREATMENT
• Once the diagnosis is established, the definitive
treatment is operative intervention.

PREVIOUSLY CURRENTLY

A temporary ostomy Many infants undergo

was placed and a primary pull-through
definitive surgery was procedure, except if
delayed until the child there is associated
was older. enterocolitis or other
complications, when a
decompressing ostomy
is usually required.
• The prognosis of surgically treated Hirschsprung
disease is generally satisfactory; the great
majority of patients achieve fecal continence.

• Long-term postoperative problems include

constipation, recurrent enterocolitis, stricture,
prolapse, perianal abscesses, and fecal soiling

• Some children require myectomy or

a redo pull-through procedure.