HIRSCHSPRUNG'S DISEASE

congenital megacolon

Hirschsprungs disease (aganglionic megacolon) is a congenital anomaly

caused by migratory failure of neural crest cells leading to abnormal
innervations of the bowel.
The defect begins in the internal anal sphincter and extends proximally for
a variable length of gut.
 Incidence
Resiko kejadian
Incidence : 1/5000 live biths meningkat pada pasien
Male:female => 4:1 dengan riwayat keluarga
.dan kelainan bawaan

Paling sering mengenai rektum dan rektosigmoid (80%) dan 10%

mengenai kolon yang lebih proksimal
.kasus dapat melibatkan seluruh kolon dan bagian distal usus halus 5-10%
 PATHOPHYSIOLOGY
EMBRYOLOGY:
Normal ganglion cell development
1. Induction phase
2. Neural crest migration
3. Differentiation of the neural crest

st nerve 1
th week gestation 5 arrive in the
esophagus

th week gestation 7 Mid gut

Plexus myenteric
(auerbachs)
th week gestation 12 Distal colon
Plexus
submucosa
 embriology

anatomi
 Two basic theories exist regarding the
embryologic defect in hirschprungs desease

Failure of migration Hostile environment

Blokade of Nonsupportive
normal neural environment
crest cell Abnormal distribution
fibronectin and laminin
migration
Vascular defect
 Diagnosis
History
failure to pass meconium, painless abdomenal distension & constipation)
Physical examinations
Distended abdomen with Multiple fecal masses on abdominal examination
on DREcharacteristically there is
Anal sphincter is hypertonic
Rectum is typically empty.
Hard fecal mass.

Radiology
1. Plain x-rays of the abdomen :Erect & supine
2. Contrast Enema.
Shows narrow distal segment,funnel-shaped dilatation at level of transition zone with
marked dilatation of the proximal colon.
24-hrs delayed films is important in diagnosis; it shows poor emptying with barium
throughout the colon, as opposed to the child with psychogenic stool holding in
whom the barium generally collects in the distal rectosigmoid.
contrast enema should be done with out preparation of bowel,
4. Electromanometry :
not useful in neonate
excellent screening tool in infant & children .
The classic finding is the absence of the recto anal inhibitory
reflex when the rectum is distended.

5. Rectal biopsy :
Rectal biopsy is the definitive diagnostic test and demonstrates
absence of ganglion cells, nerve hypertrophy and stains indicating
increased acetylcholinesterase activity.
suction mucosal biopsy (at different levels ). Can be done without
anesthesia
full thickness biopsy is done under general anesthesia.

6. UltraSonography: for associated anomalies.

 :Management
Manegement of HD differs according to the presentation form and clinical
situation of the patients:
Acute I.O. : if the patient presents with acute intestinal obstruction in the
early life the management will be
resuscitation ,
NGT , NPO
IVF ,
Antibiotics ,
Rectal tube,irrigations .
When the patient becomes stable, then the definitive treatment will be planned.
Chronic constipation :
laxative
saline enema.
Work up to establish the diagnosis
then the definitive treatment will be planned
 : Definitive procedures
Once the child has reached an adequate size and age (6-12 months; 20 pounds or
more), a formal pull-through procedure is done

1. Open surgery :
There are many surgical options for Pull-through operation. All aiming at
resection of aganglionic segment and anastomosing the two normal
ganglionic ends. They give excellent result in 90%.
a.swenson.
b.soave.
c.Rehbein.
d. Duhamel.
e. Boley's.
2. LAPAROSCOPY .
3. TEPT transanal endorectal pullthrough (without laparotomy )
 COMPLICATIONS of Pullthrough

1. anastomotic leak.
2. stricture .
3. retraction of the colon.
4. fecal incontinence (soiling or encopresis ).
5. persistant constipation.
 Distinguishing features between childhood functional
constipation and Hirschsprungs disease

Feature Functional Hirschsprungs Disease

Constipation
Onset years 2-3 At birth
Delayed passage of meconium Rare Common
Obstructive symptoms Rare Common
Withholding behavior Common Rare
Fear of defecation Common Rare
Fear of incontinence Common Rare
Stool size Very large Small, ribbon-like
Poor growth Rare Common
Enterocolitis Never Possible
Rectal ampulla Enlarged Narrowed
Stool in ampulla Common Rare
Barium enema Lg amount of stools, Transitional zone, delayed
no transitional zone emptying
Anorectal manometry Normal Absent rectosphincteric refl ex
Rectal biopsy Normal No ganglion cells, nerve hypertrophy
and increase acetylcholinesterase
activity