Hirschsprungs Disease

Definition

z A congenital condition characterized by

the absence of ganglion cells in the
submucosal (Meissners) and
myenteric (Auerbachs) plexus of the
distal small bowel
z The length of intestine involved varies
z Functional obstruction results
History
z 1938: Robertson and Kernohan defined the
association of distal aganglionos and intestinal
obstruction
z 1946: Ehrenpreis first to appreciate that colon
became secondarily dilated owing to distal
obstruction
z 1948: Swenson and Bill reported the first
definitive operation for this condition
{ First to advocate full-thickness rectal biopsy for
definitive diagnosis
History

z Declining mortality rates:

{1954: Klein and Scarborough reported a 70%
mortality rate
zMean age at diagnosis 45 months
{1966: Shimm and Swenson reported a 33%
mortality rate
zMean age at diagnosis 6 months
{1992: Rescorla reported a 6% mortality rate
{2000: Teitelbaum reported a 1% mortality rate
Statistics
z Incidence approximately 1 in 5000 live births
z Male to female ratio 4:1
z Disease restricted to the rectosigmoid junction in
75%
z 20% have associated abnormalities: Down
syndrome (8%), cardiac defects (8%),
genitourinary abnormalities (6%),
gastrointestinal abnormalities (4%)
Spectrum of Disease

z Total colonic aganglionosis

z Short segment aganglionosis

z Neuronal intestinal dysplasia

Pathogenesis
z Inherited disorder with
incomplete penetrance and
variable expressivity
z
Believed to be a defect of
craniocaudal migration of
1
from the neural crest
neuroblasts originating
{Normally complete by
z 12th week of gestation
The earlier the migration
arrest, the longer the
aganglionic segment
Okamoto E, Ueda T:
1 Embyiogenesis of intramural ganglia of the gut and its relation to
Hirschsprungs disease. J Pediatr Surg 2:437-443, 1967
Pathogenesis
z Other hypotheses include defects of neuroblast
differentiation into ganglion cells and
accelerated ganglion cell destruction within the
intestines
Pathogenesis: Genetics

z Known genetic mutations associated with

Hirschsprungs Disease:
Diagnosis

z Should be suspected in:

{any infant who doesnt pass meconium within
the first 24 hours of life
{newborn intestinal obstruction
{constipation / chronic abdominal distention in
the first year of life
Diagnosis
z Differential diagnosis:
{ Includes all causes of mechanical and functional bowel
obstruction in the neonate:
z Mechanical obstruction:
Meconium ileus
Meconium plug syndrome
Neonatal small left colon syndrome
Malrotation with volvulus
Incarcerated hernia
Jejunoileal atresia
Colonic atresia
Intestinal duplication
Intussusception
NEC
Diagnosis

z Differential diagnosis:
{Includes all causes of mechanical and
functional bowel obstruction in the neonate:
zFunctional obstruction:
Sepsis
Intracranial hemorrhage
Hypothyroidism
Maternal drug ingestion or addiction
Adrenal hemorrhage
Hypermagnesemia
Hypokalemia
Diagnosis

z Workup:

{ Physical exam, including

rectal exam

{ Abdominal plain films

Diagnosis
z Workup:
{ Barium enema
zIn normal patients the
caliber of the rectum
should be equal to or
greater than the rest of
the colon
zHallmark finding is
conical transition from
distal nondilated colon
or rectum to proximal
dilated colon
Diagnosis

zWorkup (continued)
{Anorectal manometery
zHigh pressure peristalsis in proximal ganglionic
bowel
zLack of progressive peristalsis in a normal
pressure zone lacking ganglion cells
zFailure of relaxation of rectal sphincter in
response to rectal distention
zRarely used as primary diagnostic modality.
Valuable for evaluating functional results after
reconstuctive procedures
Diagnosis

z Workup (continued)
{ Biopsy
z Full thickness biopsy gold
standard. However, requires
general anesthesia
z Suction biopsy popular.
Requires skilled pathologists
and adequate specimen
z Biopsy samples should be 2
to 3 cm above dentate line
Management

z Depends on prompt diagnosis and early

treatment
z Initial management:
{Prompt decompression with large-bore rectal
tube with side holes
{Serial washouts several times a day
{Broad spectrum antibiotics, IV fluids
Enterocolitis
z Most feared complication of
Hirschsprungs disease
z Responsible for much of
the associated mortality
z Etiology not yet elucidated
{ Several infectious agents and
mucosal defensive elements
have been investigated
Enterocolitis

z Clinical signs and symptoms:

{Early: Abdominal distention, borborygmus,
diarrhea
{May progress to fever, emesis, explosive
diarrhea, fluid/electrolyte disorders, gram-
negative sepsis, colonic perforation
Management

z Dictated by presence or
absence of enterocolitis
{ Enterocolitis mandates emergent
diverting colostomy
{ Historically right transverse colostomy
performed in all
z Advantages: Faster (no intraop
frozen sections required), protects
subsequent pullthrough
z Disadvantage: Three trips to OR
needed
{ Transition-zone colostomy now favored
Management

z One-stage procedure has gained favor

{First successful report by So et al in 1980
{Preparation:
zSerial saline rectal washouts
zDigital rectal dilatations
zLast preop rectal washout with 1% neomycin
zIV antibiotics for entire perioperative period

So HB, Schwartz DL, Becker JM, et al. Endorectal pullthrough without primary colostomy in
neonates with Hirschsprungs disease. J Pediatr Surg 1980;15:470-471
Management

z One-stage procedure:
{Safe, cost-effective, avoids ostomy
complications1
zHowever, relatively few data available regarding
long-term outcome (particularly stooling patterns)
{Level of aganglionosis established with frozen
section
zRole of pathologist pivotal to success of one stage
approach

Langer JC, Durrant AC, de la Torre L, et al. One-stage transanal Soave pullthrough for
Hirschsprung disease: a multicenter experience with 141 children. Ann Surg 2003
Oct;238(4):569-583
Management

z One-stage procedure:
{Accepted contraindications include:
zEnterocolitis with poor clinical patient status
zDelayed diagnosis with resulting proximal dilatation
{Downs Syndrome
zOften cited as contraindication due to early reports of
increased complication and mortality rates
zThis has been disputed1

Hackam DJ, Reblock K, Barksdale EM, et al. The influence of Downs syndrome on the
management and outcome of children with Hirschsprungs disease. J Pediatr Surg
2003(38):946-
949
Definitive Procedures

z Success depends on the ability to place

bowel that contains ganglion cells
within
1 cm of the anal verge
z All currently utilized procedures have
produced good results. All have
produced complications.
z Surgeon experience and bias affect
results.
Definitive Procedures
Definitive Procedures
Definitive Procedures
Conclusion

z Hirschsprungs disease is a defined

clinical entity with an unclear etiology
z Successful management depends on
early diagnosis, surgical expertise,
and multidisciplinary support
z Current trends are toward one-stage
management but definitive supportive
evidence is lacking