Congenital Megacolon

(Hirschsprung’s disease)

소아과 R3
안선영
 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 (Auerbach’s 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 (Meissner’s) plexus and myenteric
(Auerbach’s) 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