THE DIAGNOSIS AND MANAGEMENT OF

HIRSCHSPRUNG'S DISEASE
Arris and Gale Lecture delivered at the Royal College of Surgeons of England
on
17th January, 1950
by
F. Douglas Stephens, D.S.O., M.S. (Melbourne), F.R.A.C.S.
FOLLOWING CLOSELY ON the theories devised to explain the pathogenesis
of Hirschsprung's disease many and varied surgical procedures were
evolved. Colectomy was logical for the congenital giant megacolon
theory and for the so-called redundant colon; colopexy was devised to
overcome the obstructive effects of kinks; and various forms of
sympathectomy and spinal anesthesia were instituted to adjust the
neuromuscular imbalance. The Hurst dilator was employed to dilate a
presumptive achalasia at the rectosigmoid region. The results of all
these methods of treatment were not strikingly successful.
In 1946 Ehrenpreis disproved the congenital megacolon theory by
showing that infants with the clinical features of Hirschsprung's disease
have a normal-sized bowel in the first few weeks of life and later develop
the typical megacolon. He concluded that the dilatation was not
congenital.
Swenson and Bill (1948), on clinical grounds, and Neuhauser, on
radiological evidence, suggested that the narrow or nearly normal-looking
segment distal to the dilated colon caused a functional obstruction. The
results of their work have most dramatically switched attention from the
megacolon to the more innocent-looking terminal segment of bowel.
Swenson and Bill modified the pull-through type of rectosigmoidectomy
procedure and adopted it for Hirschsprung's disease.
Dr. Bodian (1949-1950) has found in two post-mortems, and sub-
sequently in all 27 specimens removed by us at operation, that there is a
uniform pathology. The apparently normal and unimpressive distal
segment showed invariably two important structural histological changes.
Firstly, intramural ganglion cells of the plexuses of Auerbach and Meissner
were absent from the entire segment, and secondly nerve trunks, some-
times of very considerable size, replace the intramural ganglia.
The ganglion cells disappear quite suddenly about 1-5 cms. proximal
to the narrow segment, which, in 60 per cent. of our cases, extended as far
proximally as the rectosigmoid or last two inches of sigmoid colon. The
remaining 40 per cent. extended further proximally and the highest level
was the splenic flexure.
He concludes that this is a congenital aplasia of ganglion cells and that
its functional manifestation is lack of co-ordinated propulsive movement
in this segment of colon. He considers this pathology characteristic of
Hirschsprung's disease.
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 F. DOUGLAS STEPHENS
Zuelzer and Wilson (1948) have reported similar findings in five infants
dying between the ages of eleven days and two months of intestinal
obstruction. Whitehouse and Kernohan (1949) of the Mayo Clinic
published'confirmatory evidence in eleven cases of Hirschsprung's disease,
and Swenson and collaborators (1949) in their last seven cases.
Ehrenpreis (1950) obtained similar findings in seven more cases (personal
communication).
CLINICAL PICTURE
In my review of 73 cases of megacolon at the Hospital for Sick Children,
39 were found to have true I-ir'schsprung's disease. The remainder had
a different but uniform clinical pattern, were benign, and responded to
special medical measures. Dilatation of the rectum'and megacolon in
these cases were the sequela of simple chronic constipation. It is probably
the grouping of these two different conditions under the -term Hirsch-
sprung's disease or megacolon that has lead to such conflicting results of
treatment.
I wish to discuss in this paper the diagnosis and management of true
Hirschsprung's disease based on this conception and on a series of 27
cases treated by rectosigmoidectomy during the past 16 months at the
Hospital for Sick Children, Great Ormond Street.
The Clinical Picture of Hirschsprung's Disease
Boys are affected about 13 times more commonly than girls. The first
meconium stool may be delayed several days. Thereafter, bowel actions
vary considerably in frequency from normal to one motion a month.
Abdominal distension usually appears in the early months, although it
may be mild and intermittent and pass unnoticed. Large amounts of
flatus are rapidly formed in the colon probably due to decomposition of
stagnating faces. In the first six months acute obstructive crises with
vomiting and distension occurred in two-thirds of the cases. Fmcoliths
form above the obstruction but are usually masked by the overlying
cushion of gas. The motions when formed are small round pellets or
rope-like coils.
After weeks or months the abdomen becomes permanently enlarged due
to the development of a state of chronic intestinal obstruction, upon
which acute attacks are superimposed.
As the chronic stage continues, the abdomen becomes permanently
inflated and ceaseless writhing, peristaltic waves and borborygmi become
apparent. The enlargement is predominantly upper abdominal, causing
splaying of the ribs, raising of the diaphragm, and an apparent migration
towards the pubis of the umbilicus which becomes stretched and
everted.
During acute obstructive crises in infancy, the abdomen is tympanitic
and may become tensely distended, stretching the skin to almost paper
thickness.
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 THE DIAGNOSIS AND MANAGEMENT OF HIRSCHSPRUNG' S DISEASE
Digital examination reveals a small empty rectum, the upper end' of
which appears to grip the finger, and through the rectal wall faecoliths in
the distended bowel may be palpable.
Lagging in physical development, microcytic anemia and recurrent
putrefactive crises occasionally complicate the chronic stage of the
disease.
X-Ray Appearances
The diagnosis and extent of the abnormal segment is determined by
barium enema. Neuhauser was the first to demonstrate and attach
significance to the narrow segment in barium enema examinations in
Hirschsprung's disease.
The typical barium enema findings in the chronic stage are a narrow or
normal terminal segment of variable length merging by a funnel-shaped
transitional zone into the dilated megacolon. The narrow segment may
include only the rectum, but may extend more proximally. The dilated
bowel lies proximal to this segment, and the barium spreads out and pools
in the gas-filled lumen.
In the first few months of life, however, before the hypertrophy and
thickening of the bowel wall have permanentlv enlarged the lumen, the
contrast between the normal and abnormal segments may not be apparent.
In these cases repetition of the barium X-rays at intervals will c nfirm
the diagnosis.
The significant terminal segment is easily obscured by barium in the over-
lying dilated colon, and lateral and oblique views may be necessary to demon-
strate this region adequately.
DIFFERENTIAL DIAGNOSIS
Organic strictures and atresias of the anus and rectum cause megacolon,
but the diagnosis is obvious on rectal examination.
Severe constipation of the acquired type-the more common
condition-presents certain features in common with Hirschsprung's
disease, and in the late stage causes megacolon.
The special features of this group form a different clinical pattern. The
onset of constipation is usually later, and follows an acute illness or a
break in the bowel routine, and commences with painful dyschezia.
Fear of further discomfort causes " holding back " of the motion and the
rectum and sigmoid become distended with fmcal accumulations.
Eventually a continuous paradoxical diarrhoea or soft ftcal overflow
coexists. The abdomen becomes moderately enlarged with hard fxcal
masses. Gaseous accumulations, borborygmi and peristalsis are
inconspicuous. Digital examination reveals a distended rectum packed
full to overflowing with fxcal mud and fecoliths.
The condition is benign and of a duration of months or years, but
responds quickly to a regime consisting of thorough bowel washouts,
purgation and retraining in bowel toilet, over a period of 6-8 weeks.
259
 F. DOUGLAS STEPHENS
The restless, writhing, noisy abdomen of chronic Hirschsprung's disease
contrasts with the silent, faces-laden colon of chronic constipation. One
might even be called "active" and the other " passive" megacolon.
The barium enema findings in chronic constipation with megacolon
demonstrate the dilated rectum. Immediately proximal the megacolon
may take on the form of a terminal reservoir or a tubular dilatation.
Radiologically, megacolon with a terminal normal or narrow segment
is practically diagnostic of Hirschsprung's disease. Dilatation of the
rectum, on the other hand, is the earliest radiological evidence of the
second group with direct extension of the dilatation later into the recto-
sigmoid and sigmoid colon.,
In the newborn and early infancy periods, the acutely distended abdomen,
vomiting, and constipation suggest an acute intestinal obstruction.
Unnecessary and sometimes fatal laparotomy in this state should be
avoided by the passage of a rectal tube and barium enema. The release
of flatus and fluid fxces, with dramatic improvement in the condition,
suggests the diagnosis of Hirschsprung's disease.
TREATMENT
I have analysed surgical procedures hitherto adopted in our series of
cases and they were all disappointing except for the colostomies. Four
cases surviving partial or total colectomy in the series have shown a relapse
of symptoms and dilatation of the bowel proximal to the anastomosis.
Four cases were treated by sympathectomy, and 19 had had spinal
anisthesia with no more than temporary relief. Colostomy, in the
dilated colon proximal to the narrow segment, functioned normally.
The eventual object of the surgeon now, in the light of the new pathologic
concept, is to excise as much as possible of the distal abnormal segment
and to re-establish continuity by anastomosis, ensuring the normal anal
sphincteric mechanism.
This procedure was worked out on dogs, and successfully put into
practice on children by Swenson and Bill (1948) at the Boston Children's
Hospital nearly three years ago. The operation to be described embodies
the main principles described by Swenson (1949)* but varies in certain
details.
Preliminary Preparations
With efficient daily colonic irrigations, lasting perhaps i-1 hour,
the dilated colon can usually be emptied in about a week. Large
hard fxcoliths may become unmasked, requiring bimanual disintegra-
tion under anrsthesia. The finger can usually be insinuated along the
narrow segment to contact the fecolith when it is pressed down from above.
It has been possible in our cases to tide over acute obstructive phases by
bowel washouts. In some the tube could be passed easily into the dilated
* Paper read to the " Society for Pediatric Research," Atlantic City, N.J., on
May 3-4, 1948, and published in Pediatrics (1949) 4, 201.
260
 THE DIAGNOSIS AND MANAGEMENT OF HIRSCHSPRUNG'S DISEASE
bowel, but in others it was necessary to guide the tube digitally along the
rectosigmoid region, displacing proximally hard pellets impacted in the
narrow segment.
During this treatment occasional spontaneous bowel actions and a
general improvement in health occurred. A colostomy was performed
when the clinical improvement was optimal.
Technique of Colostomy Procedure
I wish to mention only some of the points in technique particularly
applicable to children with Hirschsprung's disease.
At this operation, through a right upper rectus muscle-splitting incision
situated immediately above the umbilicus, the abnormal segment is
explored and its upper limit demarcated for future guidance with three
black silk seromuscular sutures, and the transverse colon is brought out
as a spur colostomy. It is appropriate to use small dumb-bell perspex
rods in place of the usual glass colostomy rod and rubber tubing. The
rod is left in situ until after the rectosigmoidectomy, to prevent the
retraction of the spur and " spilling over" of fecal material into the
distal segment.
To facilitate the sewing up of the layers of the abdominal wall and to
prevent post-operative prolapse of the colostomy in children, where
uncontrolled straining is often extreme, the thick-walled colostomy loop
can be sewn with catgut sutures to the peritoneum in the upper angle of
the incision. As a further precaution the colostomy is opened at the
end of the operation to allow the free escape of gases.
Post-operative distal segment washouts to remove the remaining fecal
contents are performed daily from the sixth day until the defunctioned
colon is completely empty.
Rectosigmoidectomy is considered after the child attains its expected
weight for age. The youngest in our series was one year.
Rectosigmoidectomy Procedure
Pre-Operative Preparation.
(1) Distal segment washouts followed by local installation of sulpha-
thaladine are performed daily for five days, with the addition of
penicillin on the morning of operation. Oral sulphathaladine is
given to reduce the intestinal flora at the colostomy site, and
systemic penicillin is commenced on the day of operation.
(2) An intravenous infusion is c ommenced immediately prior to
operation.
Ancesthesia
Intratracheal gas, oxygen and ether is the anasthetic generally used.
Operation
The combined Trendelenburg and lithotomy position provides adequate
access to both the abdomen and the perineum simultaneously.
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 F. DOUGLAS STEPHENS

For the duration of the operation the proximal colostomy stoma is

sealed with a suture. A urethral catheter is inserted for the duration of
the operation and 24 hours afterwards.
On opening the lower abdomen, the abnormal distal segment is
identified. If short, the transition is at or near the brim of the true pelvis,
and, if long, in the sigmoid or descending colon. The dilated colon
proximal to it is freely mobile on a long mesentery. The blood vessels
supplying the dilated loops are also long in proportion, but longest where
the curve of the colon extends farthest from the trunk of the inferior
mesenteric artery.
The site of resection of the intestine depends on three factors.
Firstly, at least half the cone of the hypertrophied colon should be
included with the narrow segment to ensure removing all the abnormal
gut.
Secondly, there must be sufficient length of free dilated colon to pull
through the anal canal and replace the excised segment. In all our cases
there has been sufficient redundant bowel for this purpose.
Thirdly, the blood vessels must be long enough to supply the colon in
its new location.
Having determined the level for resection, it is clearly marked with
black seromuscular sutures.
The sigmoid vessels are then ligated and divided at the appropriate
sites, ensuring sufficient blood supply to the bowel through the marginal
vessel. The superior rectal artery is doubly ligated at the brim of the
pelvis after having insured the safety of the ureters.
The peritoneal covering of the rectum is then divided across the anterior
aspect of the rectum low in the pelvis. The rectum is then cored out of
its supporting tissues so as to disturb the remaining pelvic viscera and
their nerves as little as possible. The blood vessels entering the rectal
wall from the fascia are underrun with right-angled forceps and coagulated
by diathermy. The rectum is freed down to the level of the internal
sphincter and the levator ani muscles (Fig. 1).
The abnormal segment and an appropriate amount of the hypertrophied
bowel is then intussuscepted through the anus by the Denis Browne (1949)
sigmoidoscope and sling method illustrated in Figs. 2, 3 and 4. The
stainless steel needles used in this procedure are 14 inches long.
The peritoneal pelvic floor is then reconstituted and the abdominal
incision sewn up, whilst the remainder of the operation is being conducted
from the perineal aspect.
The outer segment of the intussuscepted bowel is washed with an
antiseptic and opened in a longitudinal direction with the diathermy
(Fig. 5); the inner segment is drawn down until the black stitches
demarcating the site of resection come into view, and it is also opened.
The sigmoidoscope is then reintroduced to distend the lumen of this
inner segment. Four non-strangulating equally spaced guide sutures of
catgut are then inserted through both outer and inner segments of
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 THE DIAGNOSIS AND MANAGEMENT OF HIRSCHSPRUNG'S DISEASE

Fig. 1. Diagram of the anatomy showing the freeing of the narrowed rectosigmoid
and the ligation of its arterial supply.
Reprinited by kind permis..ion of the " Proceedings of the Royal Society of Medicine," from illustrations by
Mr. Denis Browne appearing'in Vol. XLII, No. 4, p.227.

intussuscepted bowel, at points around the circumference approximately

j to i of an inch from the anocutaneous junction.
The prolapsed bowel is then cut through with the diathermy and the
hypertrophied bowel is anastomosed to the terminal half to one inch of
the rectum with interrupted muscle and mucosa apposing sutures of linen
(Fig. 6). The anastomosis is then replaced inside the anus leaving the
stay sutures of linen long and protruding from the anus.
Closure of the Colostomy
The spur is crushed on the fourteenth day after operation provided the
anastomosis is satisfactory on rectal examination. Small crushing clamps
with 2 in. blades are available for use in small children. As the stoma is
very small it is not possible, as in adults, to insert a finger in each opening,
but the blades can be directed by feel to the apposing walls, one or some-
times two applications sufficing to eliminate the spur. A week later the
colostomy is oversewn and the abdominal wall repaired in layers.
The technique adopted by us differs from that described by Swenson
(1949) in several respects. Firstly, in certain cases with milder symptom-
alology he has performed the operation in one stage, whereas we have
invariably adopted the staged procedure. Secondly, after coring out the
rectum from its supporting tissue, we have intussuscepted the bowel
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 F. DOUGLAS STEPHENS

Fig. 2. Showing the passage of a sigmoidoscope through the anus into the freed bowel
which is to be resected. Two needles, 18in. in length, are passed through the bowel
into the sigmoidoscope at a point carefully selected as the centre of the section to be
resected. They carry long loops of strong braided silk.
Reprinted by kind permission of the " Proceedings of the Royal Society of Medicine," from illustrations by
Mr. Denis Browne appearing in Vol. XLII, No. 4, p.227.

through the anus before dividing it. Swenson divides and oversews the
gut within the abdomen and pulls it through subsequently. Thirdly,
instead of two independent layers of sutures for muscle and mucosa in
the anastomosis we have used a type of vertical mattress suture which
co-apts the muscle and mucosa in each stitch.
Results of Surgery
Rectosigmoidectomy has been performed on 27 cases of Hirschsprung's
disease, with three deaths. 12 have been observed for periods of 12-15
months, and the remainder for up to 12 months.
The clinical improvement in the 24 survivors is very satisfactory,
commencing after closure of the colostomy. They are all in good general
health, and the bowels evacuate spontaneously. The stools are known to
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 THE DIAGNOSIS AND MANAGEMENT OF HIRSCHSPRUNG'S DISEASE

Fig. 3. Enlarged diagram of theP

passage of the needles into the
sjgmoidoscope. Fig. 4. Diagram showing how traction
on the silk loops produces an intus-
susception which further traction turns
into a prolapse of the rectosigmoid out-
side the anus.
Reprinted by kind permission of the " Proceedings of the Royal Society of Medicine," from illustrations by
Mr. Denis Browne appearing In Vol. XLII, No. 4, pp. 227 and 228.

be of normal calibre in 13 cases. Laxatives are unnecessary in 10, but

mild aperients are given occasionally or regularly in the remainder.
Abdominal distension is entirely absent in 13 cases, and in the remainder
occasional mild distension occurs especially if confined to bed through
some other illness. Ten of the older children have apparently normal rectal
sensation and a normal urge to defecate.
Improved radiological appearances after. 12-15 months in the first 12
cases confirm the clinical observations. There is dramatic reduction in
size in the more longstanding older cases, and in the infants where the
initial dilatation was less apparent the dilatation is now only slightly above
normal for the age. A wrinkled and overfolded appearance of the colon
suggests a persisting, though perhaps unnecessary, redundancy in volume
in some cases. Further observations in our series are necessary to
determine whether the dimensions will assume normality.
Swenson (1949) has published a series of 34 cases of resection of the
rectum and rectosigmoid region by his technique, with one post-operative
death. He reports that the remaining 33 cases appear to be complete
cures when followed up for up to two years, and the radiological follow-up
has demonstrated return of the colon to approximately normal size and
265
20
 F. DOUGLAS STEPHENS

Fig. 5. Showing the longitudinal incision of outer and Inner seg-

ments of intussuscepted bowel. The sigmoidoscope has been
re-introduced and guide sutures are placed through both segments.

II
Fig. 6. The cutting of the double layer of bowel by means of a
diathermy needle and its sewing by linen vertical mattress sutures
inserted with an extra twist to hold the edges of the mucosa
together. On the completion of this anastomosis the line of the
sutures is allowed to retract automatically inside the anus. The
original line of locking sutures may be left long in order to bring
it out again should this be necessary for any reason.
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 THE DIAGNOSIS AND MANAGEMENT OF HIRSCHSPRUNG' S DISEASE
contour by the third post-operative month. Their post-evacuation films
showed essentially normal emptying of the colon.
Complications of the Operation
One case developed bladder paralysis, which completely recovered
after five months, with suprapubic cystotomy. Two others had a
transient form of post-operative retention.
Three children, though not incontinent of ftces, soiled themselves
slightly for several months. Two have completely recovered and the
third is a recent case.
Two children developed strictures at the anastomosis, due presumably
to ischemia of the distal end of the dilated colon. These children have
made good progress similar to the others, despite the strictures which
need regular dilatation.
In one child about two inches of the distal rectum and anal canal still
remain after rectosigmoidectomy, and though he is much improved, and
for the first time evacuates spontaneously, the motions are narrow and
he has a regular mild abdominal distension which deflates spontaneously
during the night.
One child aged one year died at the end of the operation which was
complicated by severe and prolonged intractable anxsthetic convulsions.
The second fatal case was a boy aged seven who had had nine previous
operations including sigmoid colectomy, closure of fistulh, and
emergency operations for relief of obstructions. He succumbed on the
third post-operative day from ischaemic necrosis of the suture line and
peritonitis.
The third case was a child of 17 months who died of acute cardiac
arrest during anesthesia at the termination of the operation.
Alterations in technique adopted to overcome the various complications
as they arose are incorporated in the present description of the operation.

Operations vith Special Features

Two cases, one being the fatal case already described, had had previous
sigmoid colectomy with anastomosis of the descending colon to the
abnormal segment. The surviving child has now had a successful
rectosigmoidectomy with anastomosis of the descending colon to the
lower rectum.
A hemicolectomy had been performed previously on another child,
and the transverse colon had been anastomosed to the abnormal segment.
A rectosigmoidectomy has now been performed with anastomosis of the
transverse colon to the lower rectum. It is now one year since the
colostomy was closed and he is in good general health with regular
spontaneous unformed evacuations. He has occasional attacks of
distension and colic relieved by evacuation of flatus.
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20-2
 F. DOUGLAS STEPHENS
Three cases had had sympathectomy operations and now, following
rectosigmoidectomy, as far as can be judged, their sphincter activity and
colonic (now rectal) sensation simulates normality.
SUMMARY
The major recent developments concerning the etiology, clinical
features, and surgery of Hirschsprung's disease are discussed.
The symptoms of this disease are due to an intermittent partial or
complete obstruction in a variable length of the most distal segment of the
large intestine, which has in the past been regarded as innocent. The
megacolon proximal to this segment is secondary to the obstruction.
The primary pathology of Hirschsprung's disease is characteristic, and
is a complete aplasia of the ganglion cells in the intramural plexuses of
Auerbach and Meissner in the distal segment.
This abnormality accounts for an interference in the onward peristaltic
detrusor activity in this segment.
Twenty-seven cases of Hirschsprung's disease treated by recto-
sigmoidectomy are reported, and the technique of the operation is
discussed.
The post-operative clinical and radiological follow-up over a period of
two years confirms the rationale of rectosigmoidectomy for Hirschsprung's
disease.
ACKNOWLEDGMENTS
I wish to acknowledge the co-operation of the consulting physicians
and surgeons of the Hospital for Sick Children, London in this work. I
owe special thanks to Dr. Martin Bodian for the use of his slides showing
the pathology, and his help and guidance, to Dr. Ward for the radio-
logical data, and to Mr. Denis Browne for assistance in the elaboration
of the surgical technique. My thanks are due to Dr. Swenson whose
clinic I visited two years ago and whence my interest in this subject was
stimulated. I am indebted to Mr. Derek Martin for a considerable
number of excellent illustrations shown at the lecture.

REFERENCES
BODIAN, M., STEPHENS, F. D., WARD, B. C. H. (1949) Lancet 1, 6.
(1950) Lancet 1, 19.
BROWNE, D. (1949) Proc. R. Soc. Med. 42, 221.
EHRENPREIS, Th. (1946) Acta chir. scand. 94, Supp. 112.
personal communication.
SWENSON, O., BILL, A. H. Jr. (1948) Surgery 24, 212.
NEUHAUSER, E. B. D., PICKETT, L. K. (1949) Pediatrics 4,, 201.
RHEINLANDER, H. F., DIAMOND, I. (1949) New Eng. J. Med. 241, 551.
WHITEHOUSE, F. R., KERNOHAN, J. W. (1949) Arch. Intern. Med. 82, 75.
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