HIRSCHSPRUNGS DISESASE

Congenital megacolon, or hirschsprungs disease, is one of the classic problems in

pediatric surgical practice. it enters into the differential diagnosis of newborn infants with
intestinal obstruction as well as the perplexing problem of an older child with recalcitrant
constipation. Furthermore, our understanding of this fascinating entity, from the original,
clinical, gross autopsy descriptions to the current histochemical and functional studies,
mirrors the progress of all medical practice.

Although there were references to patients with megacolon before 1886, it was Herald
Hirschsprung, a Danish pediatrician, who first described it as a distinct clinical entity. His
two patients died at 8 and 11 months, respectively, with unrelenting constipation,
malnutrition, and enterocolitis. During the early 1900s, there were number of theories for the
etiology of the disease, but the concept that gained most support was that of neural
imbalance, producing malfunction in the entire large intestine. This concept resulted in
attempts to treat Hirschprungs disease with drugs and sympathectomy. The long-term results
of patients treated in this manner were unsatisfactory. Consequently, treatment evolved to
resection of the massively dilated portion of the bowel, with anastomosis of apparently
normal proximal bowel to the remaining sigmoid. The initial improvement in these patients
was transient-they again developed constipation with massive bowel dilatation and
hypertrophy.

Reports of an absence of ganglion cells in the distal colon were not fully appreciated,
and the absence even was attributed to static and fecal impaction. This was the prevailing
situation when Swenson began his studies of Hirschsprungs disease in 1945. He saw a 4 year
old child with progressive, life threatening abdominal distention make a surprisingly prompt,
complete recovery after a sigmoid colostomy. Since the child had regained good health, the
family requested that the colostomy be closed, and this was done. However, despite vigorous
treatment with drugs, a lumbar sympathetic block, and spinal anesthesia, the child became
progressively worse, and 16 months later a transverse colostomy was made. There was again
a prompt recovery. Two additional patients with congenital megacolon responded in a similar
manner when their colostomies were closed. The explanation for this recovery following
colostomy appeared to be a functional defect in the distal colon. This prompted a critical
review of barium enemas in patients with congenital megacolon. All of patients showed
narrow, irregular distal colonic segments, which varied in lenght. Colonic peristaltic tracings
demonstrated propulsive waves descending through the left colon in normal subjects. A study
of five patients with Hirschsprungs disease showed normal constractions in the left colon
that did not continue into the rectosigmoid. Resected specimens of distal colon that were
defective in peristalsis demonstrated an absence of ganglion cells. This established the fact
that the aganglionic bowel was defective in function and could be cited as the cause
Hirschprungs disease. Swensons work was confirmed by others who reported the absence of
ganglion cell in the distal bowel in children with Hirschsprungs disease.
PATHOPHYSIOLOGY

The intrinsic autonomic nervous system of the bowel consists of three distinct
plexuses of ganglion cells with their neural connections. Auerbachs plexus lies between the
circular and longitudinal muscles, Henles or the deep submucosal, plexus is along the inner
margin of the circular muscularis propria, and Meissners plexus lies immediately beneath the
muscularis mucosa. Sympathetic fibers originating from cell in the bowel wall and end in a
fibrillar network about the intrinsic ganglion cells. Cholinergic fibers from the vagal and
pelvic outflow also terminate in the intrinsic plexus, primarily in the distal rectum and
internal sphincter. The ganglion cells constitute the intrinsic neuroregulatory apparatus of the
bowel. Longitudinal sections through the distal rectum have demonstrated the absence of
ganglion cells in Auerbachs plexus to 1,4 cm above the pectinate line in normal patients. The
submucosal plexus terminates an average of 2 mm proximal to Auerbachs plexus, and there
is an additional 0,5 cm of distal rectum with a diminished number of ganglion cells. This
normal absence or paucity of ganglion cells for 2 cm above the pectinate line indicates the
necessity of taking a diagnostic rectal biopsy above this point.

In classic Hirschprungs disease, the ganglion cells are absent from all three plexuses.
The space normally occupied by ganglion cells is taken up by large, longitudinally oriented
nerve fibers. There is a transition zone between the normal and aganglionic bowel, which
contains reduced numbers of cells. Grossly, this zone is a tapered section from the dilated to
the contracted bowel.

Histochemical studies have shown an increase in the number and size of cholinergic
and adrenergic fibers in the aganglionic segment. The concentration of acetylcholine in the
aganglionic bowel is 2 to 9 times higher than in the normal colon. Thus, the aganglionic
bowel does not have normal cholinergic receptors. The abnormal bowel also has a higher
concentration of catecholamine-containing nerve fibers. Touloukian et al found te tissue
concentration of norepinephrine in aganglionic segments to be nearly 3 times that of normal
bowel, evidence for adrenergic hyperactivity. In vitro studies and electrical field stimulation
confirm the excess release of acetylcholine and that the nonadrenergic inhibitory system is
absent. The adrenergic system is unable to effect muscle relaxation by direct action on the
muscle in spite of the elevated norepinephrine concentrations. The absent cholinergic
ganglion cells prevent coordinated peristalsis, and cholinergic nerves from the sacral
parasympathetic plexus directly stimulate muscle cells, producing unchecked contraction.
The intramural nonadrenergic inhibiting neurons of Auerbachs plexus are absent, so any
stimulus to relaxation of the circular muscle fibers also is lost. The result of this autonomic
imbalance is a constant state of contraction in the aganglionic bowel and internal sphincter.
Peristaltic waves from normal bowel stop at the aganglionic segment, and the internal
sphincter remains spastic despite pressure stimulation in the rectum.

Extent of Aganglionosis
 We have analyzed data in 880 cases collected from seven centers throughout the
world. In 75 percent of the patients, the aganglionic segment extended into the sigmoid colon,
where as in only 2 percent was the total colon or portions of the terminal ileum aganglionic.
Total intestinal aganglionosis also has been reported. We have not personally observed
ultrashort Hirschsprungs disease but believe that if one does a very low biopsy, the normally
aganglionic internal sphincter could be misinterpreted. We have now observed one
histologically proven skip area, in which the transverse colon contained ganglion cells,
whereas both the distal and proximal colon were agnglionic. Other reports of skip areas have
indicated that the transverse colon contained ganglion cells and could be used in the pull
through operation.

There are two embryologic explanations for the presence of ganglion cells in the
bowel. The most commonly accepted theory suggests that the ganglion cells are derived from
the vagal neural crest and that the neuroblasts are distributed to the bowel by a craniocaudal
migration during the 5th to the 12th weeks of gestation. The neuroblasts initially appear in the
myenteric plexus just outside the circular muscle layer and later migrate across muscle to
submucosa. The earlier this caudal migration of neuroblast is arrested, the longer is the
agnglionic segment. Smith confirmed these studies and observed the postnatal development
of ganglion cells, especially in premature babies. The theory of craniocaudal migration
explain the absence of ganglion cells at the distal and of the alimentary tract but leaves the
nagging question of how skip areas can occur. Its is possible that the distal bowel is
innervated from the caudal portion of the neural crest.

EPIDEMIOLOGY

The incidence of Hirschprungs disease is not known precisely but is about 1 in 5000
live births. In our review of 880 cases, 81,1 percent occurred in males, and 88,3 percent of the
cases were in Caucasians. There is a familial tendency. Richardson and Brown found 57 cases
in 24 families. One mother had six sons by three different fathers, all afflicted with the
disease. In our series, the disease was found in 1,3 percent of the childrens parents, and 0,5
to 1,0 percent occurred in siblings. Bodian and Carter reviewed the basis for genetic and
familial transmission and found it unaffected by maternal age or birth order. The disease
appears to be an autosomal recessive and sex-linked trait. If the first child is a girl with a long
segment disease, the chances are increased that her siblings will be affected. In our series, one
mother with a sigmoid lesion had twin girls, both with total colon aganglionosis. Another had
four children, three of whom had Hirschprungs disease.

ASSOCIATED DEFECTS

Downs syndrome occurred in 4,2 percent of our patients, and associated cardiac and
urologic defects were rare. Hirschprungs disease is even even more rarely linked with other
intestinal anomalies, such as atresia or malrotation. Always examine the distal resected bowel
in atresuas for ganglion cells ! Wardenburgs syndrome, consisting of a characteristic facial
deformity, congenital deafness, and extensive areas of white hair, also has been associated
with Hirschprungs disease. This is not surprising, since this disease also arises from an
abnormal development of the naural crest. The association of megacolon and piebald hair
also occurs in a strain of mice.

DIAGNOSIS

The sign and symptoms of Hirschprungs disease are highly variable. On the one
hand, it may appear in the newborn period with acute signs of abdominal distention,
vomiting, and failure to pass meconium. On the other hand, the disease may persist untreated
into adult life. However, all of the 26 patients ( aged 17 to 62 years) reported by Todd had
symptoms since birth. Not only do the symptoms date from birth, but when birth histories are
available, 94 percent of infants with Hirschprungs disease are seen to have had delayed
passage of meconium. This is the cardinal symptom that, if appreciated, allows diagnosis in
the neonatal period. Frequently, the initial passage of meconium is stimulated by a rectal
examination or an enema. If the diagnosis is not made at that time, there may be a period in
which the baby has constipation but moves the bowels in response to formula changes or
suppositories. Either this constipation will progress to severe obstruction, or the infant will
develop enterocolitis. The enterocolitis associated with Hirschprungs disease is poorly
understood but is associated with fever, vomiting, progressive abdominal distention and
paradoxically, explosive diarrhea. As the disease progresses, peristalsis diminishes and then
stops. At this point of intestinal decompensation, there is massive abdominal distention. In
previous years, when it usually went unrecognized, this condition carried an 80 percent
mortality. Intestinal perforation and peritonitis may occur secondary to Hirschprungs disease.
In our series of 880 patients, there were 25 intestinal perforation, ad we have seen 2 cases of
appendicitis with Hirschprungs disease.

In the usual case, abdominal distention and constipation wax and wane in response to
formula changes, enemas, and laxatives. If the mother breast-feeds, the symptoms will be
ameliorated, only to commence again when formula is substituted for breast milk. The mother
may hear loud borborygmi, and the infant may have episodic vomiting when the feces is
severely impacted. In the older child, there is typically severe abdominal distention with
dilated loops of intestine outlined on the thin abdominal wall. Fecal soiling is generally
absent in older children but may occur in 4 percent of patients, especially with short segment
disease. On physical examination, a visible and palpable transverse colon with an explosive
passage of stool in response to a rectal examination suggest Hirschprungs disease. In older
children, the abdominal distention is associated with an increased anteroposterior diameter of
the chest., and there are palpable fecal impactions in the abdomen. Occasionally, these
impactions are so huge they are thoughtto be tumors, but an impaction will indent on finger
pressure. Classically, the rectum will be empty. Small amounts of stool were found in 40
percent of the outhers patients, and 15 percent had rectal impactions. The first diagnostic test
in most children should be an plain supine and upright film of the abdomen. In the newborn,
it is difficult to distinguish small intestinal distention from colonic distention, but in older
infants, one often can identify a dilated segment of transverse colon crossing the upper
abdomen.

The barium enema is a diagnostic tool, but its limitations must be appreciated. Errors
in interpretation of the barium enema rest on two factors: the age of the patient and the length
of the aganglionic segment. In infants less than 1 month old, the proximal bowel has not yet
dilated in contrast to the aganglionic zone. The x-ray diagnosis in the neonate is improved by
obtaining a film 24 hours later that shows retained barium. Furthermore, the small left colon
syndrome, hypothyroidism, and the meconium plug syndrome may all be confused with
Hirschprungs disease.

A baby with total colon aganglionosis may be diagnosed as normal or as having a

proximal small bowel obstruction because the entire colon is small but is not a true
microcolon. In older children, there is difficulty with the diagnosis of short segment diseaase
because the column of barium may obscure a narrow rectal segment. This fact accounts for
the 6 percent rate of inaccurate diagnosis by barium enema in children oer 1 year of age. With
the barium enema, one typically observes dilated bowel proximal to a narrow segment. This
is best appreciated on a lateral film of the barium-filled rectum. Failure to evacuated the
barium is another consistent finding in cases of congenital megacolon. Irregular, spiculated
mucosa is caused by intercurent enterocolitis. A typical history, together with barium enema
demonstration of an unequivocal narrow distal segment, precludes a need for further
diagnostic tests.

More specific tests are indicated in newborn infants in whom the radiologic findings
are atypical, as well as in the occasional older child who is thought to have psychogenic
constipation but whose history or barium enema examination is atypical. The most reliable
diagnostic test is the full-thickness rectal wall biopsy, and the microscopic study for ganglion
cells. This test requires hospitalization for 2 to 3 days and administration of a general
anesthetic. The child is prepared with rectal irrigations and oral cathartics until the colon is
emptied. The biopsy is performed with the child in an exaggerated lithotomy position. A
headlight is extremely helpful. The rectum is vigorously dilated and futher cleansed with
saline and povidone iodine irrigations. Small retractors are inserted into te rectum to expose
the posterior rectal wall. Two traction sutures are placed 2 to 3 cm above the mucocutaneous
line, and traction prolapses the full thickness of the rectal wall in to the operative field. A
third suture is placed through the rectal wall between and above the traction sutures. The
biopsy is then taken with scissors. The first cut is aimed to penetrate through the rectal wall,
after which the scissors are spread outside the muscular layers. Bleeding vessels are
controlled with electrocoagulation so that the two layers of muscle wall can be clearly
identified. A 0,5 by 1 cm segment of tissue is then removed with the suture, after which the
rectal muscle and mucosa are closed separately. A frozen section is performed immediately to
ensure that the specimen is adequate. If there are no ganglion cells on the frozen section, we
may proceed with a colonostomy under the same anesthetic, if indicated. An experienced
pathologist can make a definitive diagnosis, providing the biopsy is taken proximal to the
area where ganglion cells are normally sparse or absent. The only disadvantage to a full-
thickness biopsy is scarring, which may hinder the definitive resection.

Biopsy of the mucosa and the submucosa is easier to perform and, with experience
will yield results that are nearly as satisfactory as those obtained with a full-thickness biopsy.
A mucosal biopsy may be obtained in a neonate or small infant by having a nurse hold the
child by the legs in the lithotomy position . The anus is then spread with an anal specuum,
and a specimen of mucosa is obtained with a laryngeal or any short biopsy forceps. The
technique of rectal biopsy has been further simplified by the use of an intestinal suction
biopsy capsule. We currently use a 4,7 mm capsule with the following technique. Rectal
irrigations are given until the rectum is clean to digital palpation. When the test is performed
on outpatients, these irrigations may be given by the mother at home. The capsule is inserted
into the anal canal for the distance of 5 to 6 cm, with the knife of the capsule closed. The
capsule is opened when it is in the proper position, and negative pressure of at least 20 mm of
mercury is applied for several seconds. This allows time for the mucosa and submucosa to be
pulled into the capsule. The knife is pulled shut, and the capsule is removed from the rectum..
The biopsy is then teased out of the capsule with a needle and placed on a plastic film. It is
helpful to axamine the biopsy with a magnifying lens to make sure that a bit of submucosa is
included in the specimen. The specimen is oriented with the mucosa down. It must be kept as
flat as possible and immediately fixed in Bouins solution. It is helpful to obtai at least two
biopsies in case the first one is not satisfactory. In normal patients,ganglion cells are readily
found in a properly obtained submucosal biopsy. As many as 20 to 50 sections may be
required to confirm the presence of ganglion cells, which are smaller and more difficult to
identify than in the Auerbachs plexus. No errors of interpretation were found in a series of 42
patients when two adequate specimens from each patients were examined. In Hirschprungs
disease, no ganglion cells are found, but in the typical patient, nerve trunks are identified. The
rectal suction biopsy has proved to be most valuable in the exclusion of Hirschprungs
disease, especially in the newborn infant who hs had e delayed passage of meconium. We
now perform this test on all infant for whom the diagnosis of meconium plug syndrome has
been suggested. The rectal suction biopsy is not so helpful in excluding Hirschprungs
diseasein older children, who may have a short segment lesion. In such cases, the mucosa is
thickened, and it is more difficult to obtain a sufficiently thick specimen. In these patients, we
continue to prefer the full-thickness biopsy, which can be extended to an anorectal myotomy
if there are no ganglion cells on the frozen section. We are not willing at this time to make a
definitive diagnosis of Hirschprungs disease in any patient solely on the basis of an absence
of ganglion cells in a suction biopsy. Histochemical techniques add to the accuracy of light
microscopy. Normal patients show barely detectable acetylcholinesterase activity in the
intestinal submucosa. When ganglion cells are absent, there is an overabundance of
acetylcholine and, consequently, of the corresponding enzyme, acetylcholinesterase. When
acetylcholinesterase stains are used, it is necessary to look at only one section to make a
definitive diagnosis. There is an additional factor: stains for acetylcholinesterase are positive
findings, where as the absence of ganglion cells may mean only that one has not looked at
enough material.
 Measurement of anorectal pressure also have been used to diagnose Hirschprungs
disease. In normal patients, distention of the rectum produces an involuntary relaxation of the
internal sphincter appears to be mediated through the intramural ganglia. In Hirschprungs
disease, the internal sphincter fails to relax in response to balloon distention of the rectum.
Using a simplified triple balloon system and a water manometer, distention of the rectal
balloon with 10 to 15 mm of water results in a gradual fall of internal sphincteric pressure( 2
to 4 cm of water in normal children). In our experience, it has been difficult to place
accurately the recording balloons or an open system within the internal sphincter.
Furthermore, crying and abdominal straining may produce false results. In tthe newborn
period, when one would like to make the diagnosis of Hirschprungs disease without resort to
biopsy, the anorectal reflex is poorlydeveloped. Holschneider et al. have demostrated that the
normal rectoanal reflex does not develop until 12 days of age. In a highly sophisticated study
conducted in a special manometric laboratory, there were 10 false positive and 8 false
negative results in 229 examinations. There was a 26 percents error rate in infants under 1
month of age. Although the accuracy of manometry increases with patient age, it is never
sufficiently accurate to make a definitive diagnosis of Hirschprungs disease wihout
confirmatory biopsy evidence. The history, physical examination, and barium enema are just
as accurate in determining the need for biopsy in the older child. Consequently, manometry is
at best only a rough screening test. The rectal suction biopsy is simple and fast and provides a
greated degree of accuracy in the diagnosis of Hirschprungs disease than do other
prelimenary tests.

TREATMENT

A variety of operations have been developed for the cure of Hirschprungs disease.
They are all designed to bring bowel containing normal ganglion cells down to the distal
rectum. This can be accomplished as a primary procedure in a child over 1 year of age and in
good nutritional condition whose colon is not excessively dilated. When the diagnosis is
made in small infants or when the bowel is tremendously dilated, temporization is indicated
to allow the child to grow normally and to reduce the size of the colon. The choice of
treatment depends on the childs age and general condition. However, either prolonged rectal
irrigations or a colostomy will be indicated before the definitive operation. Rectal irrigations
are indicated to decompress the neonate while awaiting a definitive diagnosis, to treat
enterocolitis, and to remove fecal impactions in older children.

When the diagnosis is made i a child whose only symptom is constipation and who
has never had enterocolitis, it is possible to avoid a colostomy if the mother is willig to give
rectal irrigations until her baby is a year old.

An irrigation is not an enema! Saline is instilled into th rectum through a rubber

catheter with a syringe. In a newborn, a size 16 catheter is inserted for several centimeters.
Saline (15 to 20 ml) is instilled into the rectum with a syringe and then allowed to run out
through the catheter by gravity. The procedure continues as long as stool is returned and is
repeated several times a day until the infants bowel has decompressed. In older children, a
well-lubricated, size 20-28 French catheteris used, and 50 to 100 ml of saline is injected each
time. It frequently is necessary to provide half-hour irrigation sessions several times a day to
rid a child of a large impaction. During this time, oral mineral oil and mineral oil retention
enemas are given to soften the impaction. Once the impaction has been broken up, once-daily
irrigations are sufficient to keep the bowel empty. A child who is 4 to 6 months old is
admitted to the hospital and irrigated until completely deflated. During this time, the mother
is taught how to give the irrigations. Many children are then sent home, with the provision
that if the mother cannot keep the bowel deflated, a colostomy will be performed. However,
if the infant has enterocolitis, the irrigations are used along with total IV elementation to
improve the babys general condition and to deflated the overdistended bowel until a
colostomy can be performed. Hyperalimentation is continued after the colostomy is
performed because some infants continue to have diarrhea and vomiting whenever oral
feedings are commenced.

A colostomy is indicated in any child who has had enterocolitis, in younger children
when irrigations fail, and in older children who are malnourished and have hugely distended
colons. The colostomy ahould be placed just proximal to the transition zone in the most distal
portio of the bowel with normal ganglion cells. The location of the incision is determined by
observing the location of the transition zone in the most distal portion of the bowel with
normal ganglion cells. The location of the incision is determined by observing the location of
the transition from dilated to narrow bowel via barium enema. In the usual case, a left lower
quadrant, muscle-splitting incision will expose this area. A biopsy must be taken of the bowel
wall to accurately determine the proper colostomy site. The biopsy site is chosen by
observing the apparent transition zone; an extramuscular biopsy will avoid contamination
with intestinal contents. This is accomplished by placing two traction sutures so as to stabilize
the colon wall. Two incisions are then made one-quarter of an inch apart down to the mucosa,
and with scissors dissection, a strip of muscle is excised, leaving the mucosa intact. The
muscular defect is then closed with silk sutures. When no ganglion cells are found on a frozen
section, another more proximal biopsy is taken. A colostomy is made at the point where the
pathologist finds ganglion cells.

A blindly placed transverse colostomy should be avoided because in 10 percent of

patients the aganglionosis extends across the ascending colon. Furthermore, a transverse
colostomy attaches the colon to the anterior abdominal wall, and there may be insufficient
length of bowel to extend to the perineum during the reconstruction. Even if the bowel distal
to the stoma is long enough, it is small in diameter, and when anastomosed to the rectal
stump, it is more likely to stricture. Finally, if the colostomy is left in place, a third operation
will be necessary for its closure.

Evisceration of small intestine through the colostomy site is a constant hazard in

neonates. Consequently, the bowel is sutured to the peritoneum and fascia. A loop colostomy
with the bowel over a rod is preferable because of the ease with which it can be taken down.
If the bowel is greatly dilated, it may be opened after it has been sutured to the fascia.
Otherwise it is opened after 8 to 12 hours to allow time for a seal to develop about the bowel.
When the rod is removed a week later, te colon is completely divided and a bridge of fibrous
tissue has developed that will prevent prolapse. The resection is delayed until the child
weighs 15 to 20 pounds.

The Swenson Pullthrough

Children who must undergo colon resection are given only clear liquids and an elemental diet
by mouth for 3 days before surgery. Rectal irrigations are carried out until the colon is
completely emptied. If there is a colostomy, both the proximal limb and distal limb are
irrigated until the bowel is clean. Parenteral antibiotics are given the morning of surgery.

Technique The abdomen and perineum are prepared with povidone-iodine, and the rectum ia
again irrigated after the child is under anesthesia. The rectum may be further cleansed with
povidone-iodine swabs. A small, Silastic Foley catheter is inserted into the bladder for
decompression during the operation and for the first 3 to 4 postoperative days. The patients is
positioned on the operating table provide simultaneous exposure of the perineum and
abdomen. During the initial portion of the operation, the perineum is covered with sterile
drapes that can be removed. If the child has a colostomy, the opening is detached from the
skin and closed. The drapes, gown, and gloves are changed, and the colostomy opening may
then be dissected from the peritoneum and fascia within the abdomen without contamination.

A left rectus, retracting incision is advantageous because the splenic flexure can be
more easily mobilized. A transverse incision limits the proximal dissection. Once the
abdomen is opened, the sigmoid colon is delivered into the wound. If there has been a
previous colostomy and there are biopsy-proven ganglion cells, this opening is used for the
pullthrough. Otherwise, it is necessary to use the most distal bowel to contain ganglion cells
as demonstrated by biopsy. The proximal line of resection above this point is selected and the
bowel is divided between Kocher clamps or staples. One or more sigmoidal arteries are then
divided to provide a length of bowel sufficient to reach the perineum. At this point, it may be
necessary to mobilize the splenic flexure to provide adequate length. The marginal vessels
must be preserved to maitain vigorous bood supply at the anastomotic site. When the lesion is
in the transverse colon, it is necessary to ligate and divide the middle colic artery so that the
right colon may be turned down to the perineum.

The pelvic dissection is commenced by dividing the peritoneum along the

rectosigmoid and the rectum. These incisions, which commence lateraly, are united in the cul-
de-sac anterior to te rectum. The vas deferens and ureters are identified and observed in the
course of the peritoneal incision and the pelvic dissection. At this point, if there is a large
bulky segment of bowel, it may be divided at the rectosigmoid junction and removed. This
segment of bowel may be examined by frozen section for the presence of ganglion cells if no
previous biopsies were obtained. The superior hemorrhoidal artery, but not the vein, is ligated
at this point to reduce bleeding during the subsequent pelvic dissection, which is brought
right to the bowel wall at a point well superior to these vessels. The entire subsequent
dissection is kept immediately on the muscular wall of the bowel. It is necessary to make a
definite effort to dissect through the surrounding fatty tissue until the muscle fibers of the
bowel are identified. If this is not done, and if the dissection is performed outside this plane,
one may damage the urinary bladder innervation. It is also helpful to free the peritoneum on
each side in the pelvis so that it can sutured to the anterior peritoneum adjacent to the
abdominal icision. This will effectively wall off the small intestine from the field. The
dissection through the pelvis is kept immediately on the bowel wall by separating tissue with
the scissors to identify te blood vessels entering the bowel wall. As each vessel is identified, it
is clamped with a long, curved hemostat nd divided. These vessels may be coagulated on the
bowel side and ligated on the pelvic side. Alternatively, vessels are coagulated with bipolar
forceps flush with te bowel wall and then divided. This portion of the operation is tedious,
and an assistant should hold the tissue up on traction, so as to allow identification and control
of all vessels.

Frequently, the dissection is kept so close to the bowel wall that a small divot of
muscle is taken along with the vessels on the bowel side. When the dissection has reached the
perineum, the surgeon leaves the abdominal field, and the perineum is exposed. The extent of
dissection may be estimated by having an assistent palpate the depths of the wound while the
surgeon examines the rectum. However, it is impossible to accurately judge the extent of the
dissection until the rectum has been prolapsed through the anal canal.

The patient is now placed in the Trendelenburg position for better exposure of the
perineum. After a vigorous dilatation, a long, curved clamp is inserted through the anal canal,
and an assistant places the closed rectal stump within the jaws of the clamp. The rectal stump
is the everted. If it has been dissected sufficiently, traction on the rectum and countertraction
on the perianal skin wall expose the mucocutaneus line. This is important only posteriorly
and laterally. If the bowel hs not been freed sufficiently, the rectal stump is returned to the
abdominal cavity for further dissection. The distal dissection must be precise because if
insufficientbowel is resected, there will be a recurrence of symptoms.

When the prolapsed rectum has been sufficiently freed, the perianal field is again
prepared and draped so that a small area of perianal skin is exposed around the anus. A cut is
made anteriorly through the rectal wall about 2 to 3 cm from the dentate line, extending
halfway through the rectal circumference. A clamp is inserted through this opening to grasp
multiple sutures placed through the cut end of the proximal colon. Before the proximal colon
is pulled down, the assistent cleans 1 to 2 cm of the mesentery to facilitate the anastomosis.
When the proximal colon is pulled through, the mesenteric border must extend 2 to 3 cm
beyond the rectal incision, without tension and with an adequate blood supply. Unless these
conditions are met, there is danger of poor anastomotic healing and leakage. If necessary, the
proximal colon is returned to the abdomen for more dissection sufficient length.

When the proximal colon is of proper length and the pathologist has definitely
identified ganglion cells in the proximal end of the resected specimen, the anastomosis is
started. It is often helpful to place a fine traction suture anteriorly through the mucosa of the
rectum to clearly expose the muscular coat. Interrupted sutures are placed through the cut
muscular edge of the rectum and the muscular coat of the prolapsed colon. These sutures are
not cut but are placed in a clamp so that retraction of the rectal stump does not occur and
exposure is improved. The amputation of the rectum is completed after sutures have been
completed on the anterior half. The cut is placed posteriorly within 0,5 cm of the
mucocutaneous margin. We use bsorbable 5-0 or 4-0 polydioxone sutures for both the muscle
and mucosal layers. Care must be taken not to fold in a portion of the proximal colon and
thereby leave excessive space between sutures. If the circumference if the proximl colon is
larger than that of the distal everted rectal stump, the sutures must be placed slightly further
apart in the proximal colon to compensate for the discrepancy. When all the sutures have
been placed, the proximal bowel is opened along half its circumference. Some sutures are cut,
but enough are left to provide traction to allow accurate approximation of the mucosa. These
suture also are held to prevent the anastomosis from retracting into the pelvic. As more
mucosal sutures are placed, the muscular sutures are cut. It is helpful to place sutures at each
quadrant, while these are held outward on traction, the intervening tissue can be easily senn
and accurately sutured. When all of the mucosal sutures have been placed, they are cut,
allowing the anastomosis to retract back into the pelvis. While one team makes the
anastomosis, an assistant closes the pelvic peritoneum and the abdominal incision. The
anastomosis it self is aseptic until the proximal colon is opened, and at this point the pelvic is
protected fom contamination by the first row of interrupted sutures. In order to prevent cross-
contamination, two separate instrument tables may be used for the abdominal and perianal
portions of the operation, respectively. In recent years, one of us (JGR) has removed the
appendix and left a No. 16 catheter with multiple holes in the ascending colon for
postoperative decompression.

POSTOPERATIVE CARE

When the bowel has been well prepared and the operation has been performed properly, the
postoperative course is benign. The foley catheter is removed, and liquids may be offered by
mouth within 2 to 3 days. A cecostomy tube is left on grafity drainage, with frequent saline
irrigations, to drain liquid stool, preventing colonic distention and pressure on the suture line.
The child is given a liquid diet and advariced to full feeding as tolerated. Broad-spectrum
antibiotics, which are started immediately preoperatively, are continued for 5 days after
surgery. By that time, if the child is afebrile and tolerating feedings, he or she is discharged
home. Two weeks later, a rectal examination is performed during an outpatient visit. If
healing is satisfactory, the child is seen for follow-up visits at intervals. All patient are
evaluated continuously for difficulties i bowel habits. Diarrhea may be secondary to a lactose
or other sugar intolerance, and acute diarrhea wit distentio some times accompanies episodic
infectious diarrheas or upper respiratory infection.

COMPLICATIONS AND RESULTS

We have now evaluated the immediate and long-term result of 880 patient operated on in
seven pediatric surgical centers from 1947 to 1986. The most dangerous immediate
postoperative complication is leakage at the suture line, which occured in 5.6 percentof the
880 patient and led to a pelvic abscessin 3.3 percent. if there is any unexplained rine in
temperature, lower abdominal tenderness, or distention, a leak should be suspected. A rectal
examination may reveal a boggy, tender mass, or there may be generalized peritonitis. An
immediate contrast enema should be performed through a small, well-lubricated catheter.
After injection of a watersoluble contrast mediu, one can see the leak on fluoroscopy. An
immediate colostomy or ileostomy should be performed to prevent chronic pelvic infection,
stricture, and damage to the perineal muscles. We have observed one patient with a
generalized peritonitis, but no leak was seen on x-ray, and she recovered after abdominal
drainage, antibiotics, and a colostomy. In our earlier series, it appeared thas anastomotic leaks
were more common in children with Downs syndrome and in those who had not undergone
preoperative colostomy. In this entire group of patients, dating back to 1947, including a
group of operations carried out in the newborn period, there were 21 deaths, a mortality rate
of 2,4 percent. The mortality rate has decreased to 1,2 percent during the past two decades.

Enterocolitis occurred at some point in the course of the disease i 12 percent of the
study group and accounted for 8 deaths. Six percent of patients have had dilatations for
stricture, and 1,5 percent have required surgical excision of a severe stricture. In the longterm
study of 880 patients treated since 1947, 87 percent repot having normal bowel movement.
Eight percent have some degree of constipation requiring the occasional use of either lxatives
or enemas. Soiling was associated with some degree of constipation in 8 percent of the group.
One hundred forty-two patients are now married, and 183 children have resulted from these
marriages. There has been no long-term urinary complication, and no defects in ejaculation
have been reported. Other surgeons have reported equally good results.

ENTEROCOLITIS

An infant with Hirschprungs disease may have massive abdominal distention, paradoxical
diarrhea, and sepsis. There are tremendous losses of fluids and electrolytes, and in the past,
these infants had a high mortality rate. We have had one 3-day-old infant who has dead on
arrival at our hospital. The colon proximal to the aganglionic zone was massively distended
and ulcerated at autopsy. Milder cases are not o dramatic but are likely to occur during bouts
of upper respiratory infections or concomitant with community epidemics of diarrhea. The
clinical picture stimuates that of a mechnical intestinal obstruction, but a rectal examination
releases huge amounts of fluid and gas. Often, after the passage of a rectal tube the abdomen
deflates like a punctured automonile tire. This, of course, suggest that the spastic internal
sphincter is at fault. The syndrome may occur even after the infant has a colostomy and is
seen in the postoperative period after a pullthrough procedure.

Infants who are fed human breast milk almost never suffer from enterocolitis. In fact,
human breast milk feeding relieves the distention and constipation of some cases of
Hirschprungs disease as well, obviating the need for a colostomy.
 After a pullthrough operation, some children suffer with bouts of bloating,
borborygmi, and diarrhea. This, perhaps is not enterocolitis but is caused by a spastic
obstructing internal sphincter. None of the recommended pullthrough procedures ablate the
internal sphincter for fear of creating incontinence. Therefore, a short length of aganglionic
rectum always remains. DeLorimer correctly stated, I suggest that we need to change the
term enterocolitis to simply SOS, or the syndrome of the obstructing sphincter. There may,
however, be an infectious component to some cases because statis anywhere in the
gastrointestinal tract leads to bacterial overgrowth. Investigators at the Great Ormond Street
Hospital have isolated Clostridium difficile from 10 of 13 children with enterocolitis. The age
distribution suggested that this organism may play an etiologic role, particularly in children
under 3 years of age.

When a child has symptoms suggestive of enterocolitis or distention, the first

treatment should be a rectal examination and the passage of a rectal tube. A nasogastric tube
is placed for further decompression, and the infant is given replacement and maintenance IV
fluids. Often, a bolus of plasma or albumin is necessary to treat hypovolemia. The stools are
cultured and tested for reducing substances to rule out bacterial diarrhea and lactose
intolerance. If C. difficile is cultured, vancomycin should be given at first, and later,
cholestyramine may be effective in binding the toxins. One or move vigorous rectal dilations
under anesthesia will often relieve the symptoms.

Total Colon Aganglionosis

Hirschprungs disease that involves the entire colon and varying portions of the small
intestine presents quuite different problems from the classic case. The diagnosis is much
more difficult, and early studies included many patients in whom the diagnosis was not made
until autopsy. The incidence is now estimated to be between 5 to 7 percent of all cases of
Hirschprungs disease These infants vomit bile-stained material shortly after birth but do not
have severe abdominal distention. Some will pass stool, particularly after enemas. Plain films
of the abdomen demonstrated nonspesific, dilated small bowel. Often the radiologic diagnosis
is ileus or partial small bowel obtruction. A barium enema is nondiagnostic ecause the colon
is of normal size. The suspicion of Hirschprungs disease is heightened if the flevures are
shortened and if barium refluxes into dilated ileum. The clinical and radiologic pictures may
be confused with meconium ileus. X-rays taken 24 hours after the barium enema will
demonstrate residual barium in a contracted colon. A rectal suction biopsy should be carried
out promptly in any infant with unusual signs or symproms of intestinal obstruction.
Strangely enough, cases of total colon aganglionosis have been reported in older children.

The findings at laparatomy are confusing to the surgeon who expects to find atresia or
stenosis. There is no obvious mechanical obstruction. The colon is collapsed, and there may
be a transition zone to distended bowel in the ileum. A preoperative rectal biopsy will spare
considerable confusion at the operating table. Biopsies for frozen sections must be taken from
the wall of the sigmoid, transvere colon, and caecum to establish the diagnosis and to rule out
a skip area. Another biopsy is taken from the transition zone or dilated bowel to determine the
length of the ganglionic bowel.

In prior years, an ileostomy was performed and, later, some type of pullthrough
procedure. As may as 50 percent of infants would die from sepsis, malnutrition, and
electrolyte loss while they had the ileostomy. The mortality rate was higher the longer the
length of aganglionic bowel. An ileoanal anastomosis after a Swenson pullthrough resulted in
normal growth and development of several patients, but more were troubled with episodic
diarrhea and poor growth. In a effort to increase the absorptive surface of the bowel, Martin
advocated a Duhamel type pullthrough with a long lateral anastomosis between the
aganglionic and ganglionic bowel.

Martins procedure improved absorption and survival rate but has been followes in
some instances by enterocolitis. The terminal ileum and the right side of the colon are more
important from the standpoint of absorption than the rest of the colon. The attachment of a
patch graft of either ileum or cecum improves absorption, and the composite of aganglionic
and ganglionic bowel does not interfere with mortility. Kimura et al. have now reported 7
patients who had colonic aganglionic with from 5 to 40 cm of involved ileum who were
operated on using their technique. Several months after the patch graft, a Swenson type of
pullthrough is performed, using a segment of bowel containing ganglion cells distal to the
patch graft. The Soave type of pullthrough procedure also has been used following a patch
graft of ileum and right colon.

Our own preference is to use the Kimura operation with a Swenson pullthrough. We
have now applied the right colon patch and have completed the pullthrough in four children.
In all patients, there was a reduction in stool output, and the consistency changed from watery
to pasty after the second stage. Clearly, in these patients, absorption was improved. In one
child, the patch consisted of terminal ileum, cecum, and up to the right transverse colon. He
had two bouts of distention after the pullthrough, which responded to rectal dilatations. In
retrospect, the patch may have been too long.

At this time, we recommend the following procedures. An ileostomy is created at the

level determined to have ganglion cells by frozen section. No aganglionic bowel is resected.
The infant is treated from the onset with TPN and, when tolerated, an elemental diet. The
permanent sections are reviewed to confirm the frozen section diagnosis. If the infant will
tolerate oral feedings and can be weaned from TPN, nothing further is done in the neonatal
period. Unfortunately, if more than the distal few centimeters of ileum are involved, there
will be a profuse watery output of stool from the stoma requiring continuation of TPN. If this
occurs, the infant should be promptly reoperated on, and a patch og aganglionic terminal
ileum, cecum, and ascending colon should be sutured into the ileum. In our hands, this has
promptly decreased the stool output, so the infant can tolerate oral feedings. The Swenson
pullthrough may then be deferred to 1 year of age. Kimura has now followed four patients
from 5 to 8 years. None has experienced enterocolitis, and they average one to four bowel
movements a day. On fluoroscopic examination, bowel motility in the patched segment was
normal.
 Total intestinal aganglionic has been considered incompatible with long-term survival
without TPN. Zeigler has carried out a myotomy by removing a 1 cm wide segment of
muscle from the antimesenteric side of aganglionic jejunum. The infant then had 60 cm of
small bowel distal to the ligament of Treitz, which ended with a stoma. By 18 months, the
infant was able to tolerate 75 percent of her total caloric intake enterally, and she was at the
97th percentile for height and weight. At the time of this writing, the infant is 2 years old
and has had a pullthrough operation. She has had some enterocolitis but is able to tolerate
most of her caloric intake in the form of an elemntal diet, plus table food.

Older Children

There are special problems in the diagnosis and management of Hirschprungs disease in
older children. The diagnosis may become confused with other forms of megacolon,
particularly psychogenic constipation. A detailed history and physical examination must be
carried out to determine the time of onset of the childs bowel difficulties. When the onset of
constipation is at birth or shortly afterward, Hirschprungs disease must be a strong
consideration. A history of constipation commencing after the switch from breast milk
feedings to formula also is suggestive. On the other hand, when constipation commences at 2
or 3 years of age, coincident with toilet training, this diagnosis is unlikely. Children with
Hirschprungs disease are more likely to have a distended abdomen, with spindly legs and
arms, than are children with common constipation. The rectal examination is most importent
Inspect first for signs of an anteriorly displaced anus, anal stenosis, or spinal cord lesion. If
there is a smear of feces around the anus, the diagnosis is more likely encopresis than an
organic lesion. With Hirschprungs disease, there is classically an empty rectum, with a fecal
impaction palpated at a high level. Unfortunately, a very small percentage of children with a
very short aganglionic segment will have fecal soiling and stool palpable in the ampulla of
the rectum. A barium enema is the most important examination, since this will demonstrate
the narrow aganglionic rectum. With short segment disease, the barium study may
demonstrate only a megacolon with no transition segment. If there is a suspicion of
Hirschprungs disease, we proceed to a full-thickness biopsy to determine the presence of
ganglion cells. A suction biopsy may not cut a deep enough specimen to see the submucosa.
Rectal pressure studies are no more accurate than the history and barium enema. One must
perform a test that is absolutely accurate to decide on the proper treatment.

If the barium enema suggests a short aganglionic segment and if a frozen section
reveals absent ganglion cells, one may proceed with an anorectomyomectomy. In this
procedure, the child is placed in the lithotomy position, the rectum is irrigated, and a vigorous
rectal dilatation is performed. Retractors placed supriorly and laterally will expose the
posterior rectal walls. A transverse incision is made through the mucosa 2 cm above the
dentate line. The mucosa is then undermined to expose the underlying circular muscle fibers.
A 1 cm segment of muscle is taken for biopsy.If this demonstrates no ganglion cells, a 1 cm
wide strip of muscle is excised from the posterior rectal wall for as far as one can dissect,
usually about 6 cm. The muscle is then left open, but the mucosa is loosely sutured in place,
and a small drain is left under the mucosa for 24 hours. In our hands, this operation has
helped relieve postoperative obstructive symptoms but has failed in two patients with what
was thought to be short segment disease. In one child, the operation was performed when he
was 4 years of age. He returned at age 8 and required an abdominoperineal pullthrough. The
other was 14 years old when his disease was first diagnosed. He was asymptomatic after the
myectomy until age 25. At age 28, a Swenson pullthrough operation was performed. Starling
et al. also reported a 6-year improvement, then recurrence of symptoms after myectomy in a
9-year-old boy. An anorectal myectomy will provide temporary relief of symptoms, but for
permanent cure, a pullthrough operation appears to be indicated.

In Sherman et al.s series of 880 patients, 332 were over 2 years of age at the time of
their pullthrough operation, 78 were 6 to 10 years old, and 80 were over 11. Only 55 of these
332 patients required a colostomy before the pullthrough operation. The decision to perform a
colostomy before the pullthrough operation depends on the patientss nutritional status and
the size of the dilated bowel. In some older children, the bowel is so packed with stool that
disimpaction and enemas under general anesthesia are required. If the parents are willing to
give effective rectal irrigations for several months, it frequently is possible to carry out a
primary pullthrough. However, when the sigmoid is massively distended, we have preferred
to determine the upper extent of the aganglionic segment at laparatomy, then resect the
massively dilated, hypertrophied sigmoid colon and bring out a proximal end colostomy that
is of nearly normal size. It is foolhardy to attempt a colostomy in the massively distended
bowel because once the colon shrinks down in size, te bowel will likely prolapse. Also, even
with a colostomy, the massively distended intestine functions poorly. Resection back to
normal size bowel at the first operation, leaving the distal aganglionic segment closed, makes
the pullthrough operation much easier.

Psychogenic Constipation

Constipation is a frequent problem among children of all ages. The parents often are upset out
of all proportion to the degree of the childs illness. They often are referred for surgical
consultation because the family pediatrician is at his wits end and needs help. Frequently,
these children arrive with a stack of x-rays purporting to demonstrate megacolon. Usually, a
careful history will rule out Hirschprungs disease without resorting to further tests. An
excessive intake of cows milk with too little variety of other foods will produce simple
constipation. Other causes include hypothyroidism, spinal cord defects, anal fissures, and
anal stenosis.

When the onset is in later childhood, with a past history of normal bowel movements,
it is rare to find an organic lesion. These children may have a history of fecal soiling as the
promary complint, and it is only after performing a rectal examination that the bowel is found
to be impacted with stool.

A careful history often will reveal that the mother forced early toilet training at about
th same time a new baby made his appearance or when there was a major family upheaval,
such as a move to a new home or a divorce. The age of onset of encopresis ranges from 4 to
13 years but is usually during the early, pre-school years. The famiy thinks the child is having
great pain and suffering when moving the bowels when actually the patients struggles to hold
back bowel movements by tightening the buttocks. He or she turns red in the face, stiffens,
and in general, frightens the parents. Detailed studies of these children have not revealed
consistent data concerning intestinal transit time or evidence for motor abnormalities of the
anorectal musculature. In a detailed study of 38 encopretic children, however,63 percent were
unable to relax the external anal sphincter during attempts at defecation. More importantly, in
this study, a high percentage of these children were depressed, socially withdrawn, or
delinquent or had overt major psychiatric problems. To make matters worse, their parents
view these children with disgust and often hostility. Treatment starts with an explanation that
the child could not help himself or herself at the onset of the problem and that now the rectum
is so distended it will not respond to the normal urge to defecate. The object of medical
treatment is to empty the rectum and colon so the bowel can be restored to a more normal
size. Hopefully, this will restore the normal defecatory reflex. A high- fiber diet is the basis of
treatment. Excessive amounts of milk and cheese are eliminated from the diet, and whoe
grain cereals, such as bran, are emphasized. Corn, beans, salads, all vegetables with the skis
left in place, raw celery, raw carrots, and other perfectly logical dietary items are sggested.
Popcorn is well accepted and is an excellent source of fiber.It is necessary to remove the fecal
impaction with frequent soapsuds enemas. Once the impaction has been removed, soiling
stops, and the child commences to have a better self-image. In addition to the diet and enemas
either mineral oil or milk of magnesia is prescribed. Sometimes, initially, s much as 4 to 6
ounces of mineral oil a da is necessary; the dosage is than tapered over a period of months.

Treatment failures are frequent. In one study, there was as almost 25 percent failure
rate in keeping clinic appointment. A telephone follow-up and enthusiasm on the part of the
physician are essentil to success. During the entire treatment process, one must work to dispel
the hostility between the parent and the child. It helps to have the child assume responsibility.
Psychotherapy may become necesary because some children are severely disturbed, and the
vigorous treatment plan directed at the symptoms may only aggravate the psychologic
problem.

ALTERNATIVE OPERATIONS FOR HIRSCHPRUNGS DISEASE

There have been a number of modifications of the Swenson techniqueto minimize the pelvic
dissection. The Duhamel procedure consistof resection of the bowel down to the peritoneal
reflection, where the distal rectum is closed. A tunnel is then made behind the rectum. The
proximal bowel with ganglion cells is brought through this tunnel to the distal rectum. An
end-to-side anastomosis is made to the back wall of the rectum. Initially, a long stump of
rectum was left above the anastomosis, which accumulated stool. A number of modifications
have been devised, including the use of modified crushing clamps and stapling devices to
obliterate the septum between the normal and the aganglionic bowel.
 The endorectal pullthrough was adopted for Hirschprungs disease by Soave in a
further effort to minimize or eliminate the pelvic dissection. In the initial description of this
operation, the pulled-through bowel was left hanging out the anus until it adhered to the rectal
cuff. Boley modified this by making a primary anastomosis of the pulled-through bowel to
the anus. Regardless of how the operation is performed, an aganglionic cuff of rectum is left
around the pulled-through bowel, and the internal sphincter is left completely in place. In
1984, Soave reviewed his 20-year experience with the endorectal pullthrough. He provided a
very precise illustrated guide to his operation and a follow-up of his 271 patients. Most of hist
early complications, duff abscesses, retraction, and residual aganglionic segments, were
eliminated in later patients. Postoperative enterocolitis was cured with rectal dilatations.
Seventy-three of his patients were followed for 15 years or longer and are essentially normal.

Holschneider has exhaustively reviewed the various operations and has found
comparable results. An experinced surgeon who brings bowel with normal ganglion cells
down to the anus and who does some procedure to overcome the internal sphincter spasm
without destroying its function can expect at least 85 percent of his or her patients to hace
essentially normal bowel movements over the long term.