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HIRSCHSPRUNG'S DISEASE

congenital megacolon
Penyakit Hirschsprung adalah penyebab tersering
sumbatan saluran pencernaan bagian bawah pada
neonatus.
Penyakit Hirschsprung (aganglionic megacolon)
adalah suatu anomali kongenital yang menyebabkan
kegagalan migrasi dari sel neural crest yang
menyebabkan inervasi yang abnormal pada
pencernaan.
Defek bermula pada sfincter internal anal dan
melebar ke proksimal dan pada panjang saluran
pencernaan yang bervariasi.

Incidence & Etiology


Insidensi: 1:5000 kelahiran
70-80% pada anak laki-laki. (L : P => 4:1 )

PATHOPHYSIOLOGY
EMBRYOLOGI:
Sel ganglion neuroenteric bermigrasi dari neural crest menuju ke ujung
atas dari traktus alimentary dan selanjutnya mengikuti serat vagal ke
arah kaudal
Keterlambatan ataupun tidak adanya migrasi ini berakibat pada
gagalnya neural crest mencapai saluran pencernan bawah

PATHOPHYSIOLOGY

Patofisiologi yang mendasar pada penyakit ini adalah tidak adanya ganglion pada pleksus saraf submukosan dan
intermuskular dan ini berhubungan dengan peningkatan serabut saraf pada segmen yang terlibat.

Segmen aganglionik yang biasanya terlibat adalah rektum atau rektosigmoid. Segmen aganglionik yang
mungkin dapat juga terlibat adalah termasuk seluruh usus besar dan bahkan dapat pada usus halus.

Pathologis yang dapat terlihat adalah dilatasi pada saluran pencernaan proksimal dengan perubahan secara
bertahap ataupun tiba-tiba pada kaliber saluran pencernaan distal. Dapat berbentuk seperti corong atau kerucut.

Dari kolon proksimal sampai segmen aganglion tersebut, selanjutnya dapat terjadi sumbatan parsial, yang
kemuadian distensi dan dindingnya menebal dengan nyata dikarenakan hipertrofi otot.

Derajat hipertrofi dan dilatasi tergantung pada durasi dan derajat sumbatan, dan umur pasien.

.TYPES
1.

Congenital : This type is the commonest one .

2.

Etiology of the disease is still unknown.but Genetic factors are now


identified.
10% of cases have familial history, especially those with long
segment disease.

Acquired :
Degeneration of the ganglions may occur due to:
-Vascular causes like after pullthrough procedure due to
ischemia & tension.
- Non vascular causes like
Trypanosoma (chaga's disease).
Vit B1 def.
Chronic infection ( TB.).

ASSOCIATED ANOMALIES
HD is usually a solitary anomaly in a full term, otherwise healthy infant
Associated anomalies do occur in nearly 20% of cases
urogenital system (11%)
cardiovascular system (6%)
gastrointestinal system (6%),
with 8% having various other malformations

Prematurity is reported in as many as 10% of those children with HD


Trisomy 21 occurs in approximately 5% of cases

:CLINICAL PRESENTATIONS
1.

Failure to pass meconium in the 1st 24h of life

of neonates pass meconium in the first 24 hours of age.. Any newborn who fails 98%
to pass meconium in the first 24-48 hours of life should be evaluated for
.possible Hirschsprung's disease

2.

Neonatal Intestinal obstruction

symptoms include bilious vomiting, abdominal distension and refusal to feed.

3.

Recurrent Enterocolitis mainly in the 1st three months of life.

4.

TOXIC MEGACOLON :
Fever.
Bile stained vomitous.
Dehydration.

Abdominal distension.
Explosive diarrhoea.
Shock.
perforation occurs in 3%,specially if long segment

5.

Spontanous

6.

Chronic constipation patients may have chronic


constipation in response to changes in feeding. And may
have Growth retardation. Multiple fecal masses on abdominal

aganglionosis.

examination.

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 accosrding 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 .
The initial treatment requires performing a "leveling" colostomy in the most distal
colon with ganglion cells present. This requires exploration with multiple
seromuscular biopsies of the colon wall to determine the exact extend of the
aganglionosis. The colostomy is placed above the transition zone. Placement of
the colostomy in an area of aganglionosis will lead to persistent obstruction
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.
3.

LAPAROSCOPY .
TEPT transanal endorectal pullthrough (without laparotomy )

COMPLICATIONS of Pullthrough

1.
2.
3.
4.
5.

anastomotic leak.
stricture .
retraction of the colon.
fecal incontinence (soiling or encopresis ).
persistant constipation.

Distinguishing features between childhood functional


constipation and Hirschsprungs disease

Feature

Functional
Constipation

Hirschsprungs Disease

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,
no transitional zone

Transitional zone, delayed


emptying

Anorectal manometry

Normal

Absent rectosphincteric refl ex

Rectal biopsy

Normal

No ganglion cells, nerve hypertrophy


and increase acetylcholinesterase
activity

Back

Fig. 1 Plain X-ray showing dilated loops of bowel with absence of gas
in the rectum

back

TZ

Back

Fig. 2 Contrast Enema showing Aganglionic segment with the


transition zone

back