Congenital Megacolon

(Hirschsprungs disease)
R3

Incidence

absence of ganglion cells in the bowel wall

beginning in the internal anal sphincter and
extending proximally

1/5000 live births

M:F = 4:1

Racial distribution similar

Embryology and Etiology

Neuroenteric cells migrate from neural

crest to upper end of alimentary tract
and proceed in distal direction

12th week : migration to distal colon

first into myenteric (Auerbachs plexus)
then into submucosal plexus

Embryologic defect

Failure of neural crest migration

Immunologic mechanism: increased

expression of class II antigens in the mucosa
and submucosa-> causes fetus to mount an
immunologic response against the
neuroblast

Genetic factors: May affect more than one

family member in 3-7% of cases

Deletion in the RET gene chromosome 10q11

and EDNRB gene located on 13q22 and EDN
3 gene (major role in the development of the
enteric nervous system)

Pathology

Neonatal period: intestine is normal

Proximal ganglionic intestine hypertrophies and

becomes thicker and longer than normal

Taeniae disappear and longitudinal muscle layer

completely surrounds colon

Distal intestine: absence of ganglion cells in the

submucosal (Meissners) plexus and myenteric
(Auerbachs) plexus

Marked increase in nerve fibers which extend into the

submucosa (seen with acetylcholinesterase stain)

Aganglionosis extends to rectosigmoid region in 80%

of cases

Clinical Symptoms

Should be considered in any child who has history of

constipation dating to newborn period

90% of cases diagnosed in newborn period

Most common presentation in newborns: delayed stool passage

within first 48 hrs of life

Constipation, abdominal distension, poor feeding and vomiting

Constipation followed by explosive diarrhea, failure to thrive

in older children, large fecal mass palpable in left lower quadrant.

rectum is empty

stools: small pellets, ribbon-like, fluid consistency

Rectal exam: normal anal tone followed by explosive

discharge of feces and gas

failure to pass stool leads to dilatation of proximal

bowel -> increased intraluminal pressure, decreased
blood flow and deterioration of the mucosal barrier

stasis leads to bacterial proliferation and

enterocolitis with sepsis

early diagnosis important in reducing mortality

Study of 123 patients with HD

60% were diagnosed in neonatal period

Delayed passage of meconium (65%),

abdominal distension and constipation

17% had associated anomalies

86% had aganglionosis extending to

rectosigmoid region

Associated Anomalies

Present in 10-30% of HD

Urogenital tract (11%), cardiovascular

system (6%), GI system (6%), other
malformations, cataract, cleft palate
(8%)

3% Down SD

Diagnosis I

Abdominal x-rays: air fluid levels in colon and distended loops

of intestine

Barium enema: narrow distal segment and dilated proximal

intestine; presence of funnel-shaped transition zone between
these 2 segments (diagnostic accuracy 80-90%)

Transition zone may not be present before 1-2 weeks of age

significant barium remaining in colon in 24-hr delayed film

helpful in determining level of aganglionosis

Should not be done with clinical enterocolitis: may cause

perforation

Diagnosis II

Anorectal manometry: absence of relaxation

reflex after distension of balloon in rectum

Diagnostic
accuracy 85%

May be done at bedside or as outpatient

procedure : no complications

Test unreliable in cases where gestational age

plus age after birth is less than 39 weeks and
weight is less than 2.7kg

Diagnosis III

Rectal biopsy: gold standard

Can be performed at bedside without general

anesthesia

Biopsy taken at 2 cm, 3 cm, 5 cm above dentate line

Diagnostic accuracy: 99.7%

Most common problem is inadequate specimen

(insufficient amount of submucosa)

Differential diagnosis

Meconium plug SD, small left colon SD,

distal ileal atresia, low imperforate
anus

Neonatal sepsis, hypothyroidism, brain

injury, prematurity may result in
delayed passage of stool

Treatment

Decompression: nasogastric tube, rectal

tubes

perform surgery after diagnosis established

or perform temporary colostomy until infant
is 6-12 mos old

3 basic surgical approaches:

1)

Swenson: excise
aganglionic segment and
anastomose the normal
proximal bowel to the
rectum 1-2 cm above the
dentate line

2)

Duhamel: neorectum
created-> normally
innervated bowel brought
down behind aganglionic
rectum: anterior aganglionic
half with normal sensation
and posterior half
ganglionic with normal
propulsion

3) Soave: endorectal pull-

through procedure-> strip

mucosa from the
aganglionic rectum and
bring normally innervated
colon through the residual
muscular cuff
Ultrashort segmental HD:
excision of strip of rectal
muscle

Complications

Early complications: anastomotic strictures

(15%), wound infections (11%), anastomotic
leaks (7%)

Late complications: chronic constipation,

enterocolitis, encoporesis

Good prognosis: more than 90% of children

achieve normal bowel movement