Hisprung Disease

Ns. Eky Madyaning Nastiti, S.Kep

 Hirschsprungs disease is the

most common cause of lower
intestinal obstruction in neonates.
Hirschsprungs disease
(aganglionic megacolon) is a
congenital anomaly caused by
migratory failure of neural crest
cells leading to abnormal
innervations of the bowel (plexus
aurbach)
The defect begins in the internal
anal sphincter and extends
proximally for a variable length
of gut.

 INCIDENCE : 1\5000 live birth newborn

70-80% is boys. (M / F 4: 1 )
Less common in blacks

Incidence & Etiology

PATHOPHYSIOLOGY

The fundamental pathology in HD is the absence of ganglion cells in the submucosal and
intermuscular nerve plexuses and is associated with an increase in the nerve fibers in the affected
segment .
That aganglionic segment usually involves the terminal intestine, i.e. the rectum or rectosigmoid.
The aganglionic segment may, however, include the entire large bowel and even small bowel.
The gross pathologic feature of HD is a dilated proximal intestine with gradual or abrupt transition
to normal calibrated distal intestine . The TZ is typically funnel like or cone shaped .
The colon proximal to the aganglionic segment, in an effort to overcome the partial obstruction,
becomes distended and its wall markedly thickened because of muscle hypertrophy
The degree of hypertrophy and dilatation depends upon the duration and degree of obstruction and
thus, indirectly to the age of the patient.

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.).

TYPES.

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

98% of neonates pass meconium in the first 24 hours of age. Any newborn who fails
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.
occurs in 3%,specially if long segment

5.

Spontanous perforation

6.

Chronic constipation patients may have chronic constipation in

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

aganglionosis.

Anamnesis
Pada neonatus :
1.
Mekonium keluar terlambat, > 24 jam
2.
Tidak dapat buang air besar dalam waktu 24-48 jam setelah lahir
3.
Perut cembung dan tegang
4.
Muntah
5.
Feses encer
Pada anak :
1.
Konstipasi kronis
2.
Failure to thrive (gagal tumbuh)
3.
Berat badan tidak bertambah
4.
Nafsu makan tidak ada (anoreksia)
Pemeriksaan Fisik
Pada inspeksi abdomen terlihat perut cembung atau membuncit
seluruhnya, didapatkan perut lunak hingga tegang pada palpasi, bising
usus melemah atau jarang. Pada pemeriksaan colok dubur terasa ujung
jari terjepit lumen rektum yang sempit dan sewaktu jari ditarik keluar
maka feses akan menyemprot keluar dalam jumlah yang banyak dan
kemudian kembung pada perut menghilang untuk sementara.

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 .
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.

LAPAROSCOPY .

3.

TEPT transanal endorectal pullthrough (without laparotomy )

Tindakan Swenson

Tindakan Duhamel