Annals of Pediatric Surgery

Vol 5, No 3, July 2009, PP 154-160

Original Article

Total Colonic Aganglionosis: Outcome at both Short and Long Term Follow Up

Amel Hashish, Hisham Fayad, Ashraf El-attar A, Mohamed F Metwally, Abd Elmotelb Effat
Essam Elhalaby
Department of Pediatric Surgery, Faculty of Medicine, Tanta University, Tanta, Egypt

Background/Purpose: The management of total colonic aganglionosis is a challenging problem. Various techniques
were described with variable morbidity and mortality rates. The aim of this study was to review the short as well as the
long-term results of straight endorectal pull-through technique in the management of this group of patients
Material and Methods: The medical records of 24 patients with total colonic aganglionosis with variable lengths of
small bowel involvement were retrospectively reviewed. These patients were treated at Tanta University Hospital and
affiliated hospitals from 1998 to 2009. Each patient was evaluated as regard to sex, age, symptoms and signs, associated
congenital anomalies, radiological investigations, operative technique, any redo surgery, and outcome. Follow up data
were collected with particular emphasis on the growth development, enterocolitis, bowel function, and anorectal
continence
Results: Of the 24 patients, 15 were males and 9 were females. Four patients had a family history of Hirschsprung's
disease. Eighteen patients (75%) presented in the neonatal period, twelve (50%) had full-blown picture of distal
intestinal obstruction. Six patients (25%) presented after the first month of life although a clear history of bowel
dysfunction can be traced since birth. The length of aganglionic segments were confined to the colon in 16 patients ( 66.7
%) , while variable lengths of the small bowel were involved in 8 (33.3%) patients. One patient had total intestinal
aganglionosis; the transition zone was located at proximal jejunum in another one. Two patients (with extensive
aganglionosis) died before definitive surgery. The remaining 22 patients were treated using straight endorectal pull-
through technique. An ileostomy was done initially in 19 of the 22 patients, while one stage straight endorectal pull-
through was done in 3. The main postoperative complication included anastomotic leakage (n=2), recurrent
enterocolitis (n=6) , significant perianal excoriation (n=16), anal stricture (n=2), and adhesive intestinal
obstruction(n=1) . The follow up periods ranged from 9 month to 9 year. Sixteen of the the 22 patients developed bowel
control few weeks to few months after definitive surgery, while 6 still suffering from variable degrees of soiling (n=4) or
frank anorectal incontinence (n=2)
Conclusion The management of total colonic aganglionosis continued to be challenging. Considerable frequency of early
complications should be expected and proper management should be always planned. The long term outcome after
straight endorectal pull-through is satisfactory .
Index Word: Total Colonic Aganglionosis. Hirschsprung's disease, endorectal pull-through

INTRODUCTION
otal colonic aganglionosis with or without
T involvement of the small intestine, is a rare form
of Hirschsprung's disease. It occurs once in every
500,000 births, and it accounts for 5 % to 15% of those
diagnosed with Hirschsprung's disease (HD).1,2 Cases
of TCA are usually associated with significant higher
mortality and morbidity rates than short segment HD.
A high index of suspicion is required for the early
diagnosis. A complex medical and surgical operative
management should be planned to properly manage
those patients .

Correspondence: Essam Elhalaby, M.D, Department of Pediatric Surgery, Faculty of Medicine, Tanta University, Tanta,
Egypt, eselhalaby@idsc.net.eg

Definitive surgical correction requires an anastomosis
between ganglionic small intestine and the
anorectum. Multiple procedures have been described
for the definitive treatment of TCA. There is no
current consensus on a superior operative procedure.3
Martin et al4 described a stapled side to side
anastomosis of the ganglionic ileum with the
aganglionic descending and sigmoid colon to use the
absorptive capacity of the retained aganglionic colon.
Boley5 described further modification to decrease the
frequency of diarrhea resulting from Martin-type
modification. In his procedure, an onlay patch of a 15
-20 cm segment of the ascending colon is
anastomosed along its antemesentric border 4-6 cm
from the distal end of the ganglionated ileum using 2
layer hand sewn technique. Another modification
included a J-pouch ileoanal anastomosis done by
stapling 7-10 cm J pouch from the distal ileum with a
single layer hand sewed ileoanal anastomosis was
tried with reported success.6,7
The aim of the current study was to review the results
of straight ERPT with ileoanal anastomosis (SIAA) in
patients with TCA in our institution.
. preoperative contrast enema in only three patients.
PATIENTS AND METHODS
In this retrospective study, the records of 24 patients
with TCA treated for at Tanta University Hospital and
affiliated hospitals between 1998 and 2009 were
revised. TCA is defined herein as aganglionosis of the
entire colon with or without extension into the small
intestine. Clinical data including age at operation, sex,
associated congenital anomalies, symptoms at
presentation, diagnostic modalities, and operative
details were collected. Early and late functional
results included (growth development, stool
frequency, fecal soiling or incontinence, enterocolitis)
have been evaluated during follow up.
RESULTS
Twenty-four children with TCA were treated
between 1998 and 2009. Fifteen were males and 9
were females (1.6:1 ratio). Four patients had a family
history of Hirschsprung's disease. Congenital
anomalies were identified in 3 patients (12.5%). These
included malrotation (n=1) hypospadias (n=1), and
congenital heart disease (n=1).
155
Hashish A. et al.
Eighteen patients (75%) presented in the neonatal
period, twelve (50%) had full-blown picture of distal
intestinal obstruction. Six patients (25%) presented
after the first month of life although a clear history of
bowel dysfunction can be traced since birth. Two
patients were diagnosed after the first year of life, one
at the age of 15 months, the other at the age of 5.5
years. Both patients had history of hospital
admissions several times prior to the correct
diagnosis. They had chronic constipation, abdominal
distention, and repeated episodes of enterocolitis.
Sixteen patients had history of delayed passage of
meconium. Six patients had passed variable amounts
of meconium within the first 24 hours. The history
was not clear in the reaming 2 patients. The common
presenting symptoms were distension and
constipation. Some of them had spontaneous bowel
movements for irregular periods. A history of
preoperative enterocolitis was noted in 6 patients
(25%.).
Diagnosis of TCA was based on the clinical features,
contrast enema, rectal biopsy, and leveling ileostomy.
A clear correct transition zone was noted at
Two had incorrect transition zone at the splenic
flexure and mid transverse colon, the proper
diagnosis of TCA was made during laparotomy .
All patients had exploration. The extent of
aganglionosis was determined at the time of leveling
ileostomy. The length of aganglionic segments were
confined to the colon in 16 patients (66.7%), while
variable lengths of the small bowel were involved in 8
(33.3%) patients. One patient had total intestinal
aganglionosis. The transition zone was located at
proximal jejunum in another one ( figures 1-3)
Two patients (with extensive aganglionosis) died
before definitive surgery. A total colectomy including
the distally involved ileum and a one-stage straight
primary ileoanal anastomosis were performed in 3
patients. (Figure 4) The remaining 19 patients had
small bowel dilatation proximal to any evident
transition zone. Multiple biopsies were taken during
this initial stage. (Figure 5-6).
All ileiostomies were closed at the time of definitive
surgery. Two patients developed anastomotic
leakage on the 5th and 7th postoperative days
respectively, that required redo stoma. Another
patient develop anastomotic leakage 5 days after one
stage total colectomy and straight endorectal ileoanal
anastomosis. Ileostomy were needed in all the three
cases. These patients had contrast study 6 weeks later
before closure of their stoma.
Vol .5, No 3, July 2009
 Hashish A. et al.

Fig 1. Nearly TCA. A Transition zone is evident at the Fig 2. TCA with involvement of all the ileum. A
cecum Transition zone is evident at the distal jejunum

Fig 3. A case of TCA treated with ileostomy followed by Fig 4. A case of TCA treated with one stage total
total colectomy and straight ERPT colectomy and straight ERPT

Fig 5. Ileostomy take down, total colectomy and straight Fig 6. Endorectal dissection during straight ERPT
ERPT

Annals of Pediatric Surgery 156


The most prevalent complication was perineal
excoriation (16 patients, 72%) for a variable periods
ranged from 1 to 6 months
Six patients developed one or more episodes of
postoperative enterocolitis of variable degrees
(defined by abdominal distention, vomiting, and
watery fowl smelling stools). They were treated
conservatively. Two patients (9%) developed wound
infection and 2 developed anal stricture that required
frequent dilatation.). Adhesive intestinal obstruction
developed in one patient 6 months after surgery
necessitated adhesolysis (table 1) .
The follow up periods ranged from 9 months to 9
years. Sixteen of the 22 patients developed bowel
control few weeks to few months after definitive
surgery, while 6 still suffering from variable degrees
of soiling (n=4) or frank anorectal incontinence (n=2).
Table 1 . Functional result after definitive treatment
Result No %
Perineal excoriation 16 72
Anastomotic leak 3 13.6
Anal stricture 2 9
Postoperative enterocolitis 6 27.2
Wound infection 2 9
Soiling 4 18
Anorectal incontinence 2 9
Malnourishment 4 18
Failure to thrive in terms of body weight and height
(below third percentile) was evident in 4 children at
long term follow up. Three patients were too young
to assess bowel function. Of the remaining 13
patients, 6 (46.1%) had normal bowel control
(average 6-10 bowel movements/day immediately
after surgery, then reduced to 2-3/times/day after
follow up period of 4-7 years). On the other hand,
five (38.5 %) patients had soiling and 2 (15.4 %)
were continent. The numbers of bowel actions tend
to decrease with increasing age
DISCUSSION
Zueler and Wilson first reported TCA in detail in
1948.8 The TCA with or without small bowel
involvement is an uncommon variant of HD. Its
incidence has been recognized to be about 5% to
13% of all patients who have HD1,2 It is most
commonly recognized in the neonatal period.
157
Hashish A. et al.
However, exceptions exist in many other series.10, 11
In our series 18 out of 24 patients presented in the
neonatal period, the other 6 patients had history of
frequent intake of laxatives and enema to pass stool.
The prevalence in boys and girls is nearly equal in
some reports, whereas boys are affected more than
girls in others.12,13
In our series, boys are affected more than girls with
boys-girls ration 2.6:1. The familial incidence is
higher in cases of TCA than in cases of classical
HD.9,14 In the current series, 4 out of 24 patients had
positive family history (16.7%). Recently, RET
protooncogen and other genetic factors were
studied to get better understanding of the
pathogenesis of HD in general and TCA in
particular.15
Tsuji et al reported that 25% of their patients had
associated anomalies in the form of cardiovascular,
gastro-intestinal or urogenital anomalies.16 In our
series 3 patients has associated congenital anomalies
(12.5%)
N-Fekete et al reported that there is a high rate of
TCA cases that passed meconium in the first 24
hours of life.17 In our series 25% of our patients had
passed variable amounts of meconium during the
first 24 hour. Most of the patients presented with
abdominal distension, constipation and bilious
vomiting during the neonatal period.
The diagnosis of TCA is thought to be more difficult
to obtain than that of the classical form of HD.
Diagnostic difficulties usually result in therapeutic
delays or inappropriate surgical treatment. The
inaccuracy of radiological studies in the diagnosis of
TCA has been documented.19 Twelve out of 24
patients in the current series had history of frequent
intake of laxatives and enema. A five-year old boy
had history of inappropriate surgical procedures
(appendectomy and transverse clolstomy) before
the definitive diagnosis was made. Plain abdominal
X-ray usually suggest a low bowel obstruction,
whereas barium enema shows no particular
diagnostic finding, therefore an open biopsy is
usually required in such cases.9 The clinical and
radiologic features including delayed evacuation of
barium, abnormal contraction of the intestine and
dynamic ileus may strongly suggest the diagnosis,
but they are not diagnostic.20
In the current study, contrast study of 12 cases
raised the clinical suspicion of HD, however there
were no specific pathognomonic findings on the
contrast study to ensure the definite diagnosis of
TCA. Definitive surgery is usually recommended at
least 6 months after ileostomy. This period ensure
that the ileum has developed adequate function.21
Vol .5, No 3, July 2009

We found that 3 months is enough period of time.
All our patients were treated with definite surgery
2-4 months after ileostomy
A variety of operative procedures has been
advanced to perform a definitive operation for TCA.
Standegard first described the successful treatment
of long segment HD by pull-through procedure in
1983.21 In 1955, Swenson advocated total colectomy
with ileoproctostomy for treatment of TCA.22
Multiple adaptations have been described to
minimize postoperative enterocolitis, stooling
frequency and incontinence including, the Martin
modification of the Duhamel procedure.4 , Boley
modification of the Soave procedure5 right colon
patch graft23 and small bowel myectomy coupled
with an extended myotomy.24
Since laparoscopic surgery for colonic
aganglionosis was first reported, it has been
introduced for the treatment of TCA. Laparoscopic
surgery can assess in both detection of the
aganglionic segment and performing coloctomy.25
More recent procedures have included a restorative
proctocolectomy with a J-pouch ileoanal
anastomosis and laparoscopic pull through
procedure.6,26 Marquez3 reported that this
procedure have had good functional results with
less postoperative complications, however they are
limited with respect to short term follow-up and a
small sample of patient experience.
Controversies exists in the literature as to whether
reconstruction is best approached with a straight
ileoanal or ileal pouch and anal anastomosis. Pouch
procedure has been associated with increased risk of
anastomotic stricture, fecal stasis and pouchitis.27
On the other hand the functional result of pouch
procedures is superior to that of straight
anastomosis.6 Tilney et al reported in their meta
analysis study that the small number of studies
comparing complication and functional outcomes,
the relatively smaller number of children involved,
and the lack of any randomized control trial make it
difficult to assess the relative advantages and
disadvantages of the two procedures. They also
reported that there was no statistical difference in
the rates of small bowel obstruction or anastomotic
leakage, whereas the higher rate of perineal sepsis
in straight ileaoanal anastomosis. Pouch procedure
was significantly superior in terms of functional
outcome and less frequent defecation both during
day and night.
Coran reported a comparable functional results and
more favorable morbidity profiles by doing total
Annals of Pediatric Surgery
Hashish A. et al.
colectomies with straight ileoanal endorectal pull
through 27
All patients in this series had a primary stoma
followed by a pull through procedure later
In our study, we performed 16 straight ileoanal pull
through. Anal excoriation was found in most of the
patients. Enterocolitis occurred in 6 patients. Five
patients had soiling and two are incontinent.
The average number of bowel movement usually
improves with time.29 The it was also observed in
our study. It was noticed that the patients had
gradual improvement in their bowel over time:
these patients has loose stool for about 1-2 years
after surgery after which the stool consistency
returned to near normal. Escohar et al found that
81% of patients with TCA were continent at long
follow up.30
Tsuje et al found that 28% of TCA patients were
incontinent after 5 year of follow up, but this
reduced to 57% at 10 years and 33% at 15 years
follow up. On the other hand, Mezens et al reported
47.6% of incontinence at long term follow up and
only one third of them were occational. 31
Expected survival for TCA has improved
dramatically because of increase awareness of
knowledge of the disease and its complications. In
our series, no deaths occurred after definitive
treatment. Preoperative mortality rate is (8.3%) due
to overwhelming sepsis. Other authors reported
mortality rate ranged from 3.6 to 13 %.31, 32
No operative surgery for TCA was found to be
superior. All procedures were comparable with
respect to mortality rate of enterocolitis and
functional outcome.3
CONCLUSION
The management of total colonic aganglionosis
continued to be challenging. Considerable frequency
of early complications should be expected and proper
management should be always planned. The long
term outcome after straight endorectal pull-through is
satisfactory, awareness of the condition, early
diagnosis and improvement of postoperative care
have led to improvement in the prognosis of cases of
TCA.
REFERENCES
1-Ikeda K, Goto S. Diagnosis and treatment of
Hirschsprung's disease in Japan. Ann Surg 199:400-
405, 1984
158

2 Dykes E, Guiney E. Total colonic aganglionosis. J
Ped Gastroen Nutr 8:129-132, 1989.
3- Marquez TT, Acton RD, Hess DJ, et al.
Comprehensive review of procedures for total
colonic aganglionosis J Pediatr Surg 44, 257–265,.
2009
4- Martin LW. Surgical management of total colonic
aganglionosis. Ann Surg 176:343-345. 1972.
5- Boley S. A new operative approach to total
aganglionosis of the colon. Surg Gyn Obstet 159:481-
484. 1984
6- Rintala R, Lindahl H. Proctocolectomy and J-
pouch ileo-anal anastomosis in children. J Pediatr
Surg 37:66-70,2002.
7- Fonkalsrud EW, Thakur A, Beanes S: Ileoanal
pouch procedures in children. J Pediatr Surg
36:1689-1692, 2001
8- Zuelzer WW, Wilson JLC: Functional intestinal
obstruction on an congenital neurogenic basis in
infancy. Am J Dis Child 7440-7464, 1948
9- Suita S, Taguchi T, Kamimura T, et al. Total
colonic aganglionosis with or without small bowel
involvement: a changing profile. J Pediatr Surg
32:1537- 1541, 1997.
10- Meyers MB, Brandbum D, Vela R, et al: Total
aganglionic colon in an adult: First reported case.
Ann Surg 163:97-102, 1966
11- Louw JH: Total colonic aganglionosis. Can J
Surg 21:397-404,1978
12 Fouquet V, De Lagausie P, Faure C, et al. Do
prognostic factors exist for total colonic
aganglionosis with ileal involvement? J Pediatr Surg
37:71-75, 2002.
13- Jasonni V, Martucciello G. Total colonic
aganglionosis. Semin Pediatr Surg 7:174-180. 1998.
14- Rescorla FJ. Morrison AM, Enples D, et al.
Hirschsprung's disease evaluation of mortality and
long-term function in 260 cases. Arch Surs 117:912-
931. 1992
15- Martucciello G. Fdvre A. Takahashi M. et al.
Immunohistochemical localization of RET protein in
Hirschsprung’s disease. J Pediatr Surg 30:333-436.
1995
16- Tsuje , Spitz L, Kiely EM., et al. Management
and Long-Term Follow-Up of Infants With Total
Colonic Aganglionosis. J Pediatr Surg 34: 158-162,
1999.
159
Hashish A. et al.
17- N-Fekete C, Ricour C, Martelli H, et al. Total
colonic aganglionosis (with or without ileal
involvement): a review of 27 cases. J Pediatr Surg
21:251-254,1986.
18- Anupama B, Zheng S, Xiao X. Ten-year
experience in the management of total colonic
aganglionosis. J Pediatr Surg 42, 1671–1676, 2007
19- Swenson 0, Sherman O J, Fisher JH, et al. The
treatment and postoperative complications of
congenital megacolon: A 25 year follow-up. Ann
Surg 182:266-271, 1975
20- Hoehner JC, Ein SH, Shandling B. Long-term
morbidity in total colonic aganglionosis. J Pediatr
Surg 33:961-965, 1998
21 Sandegard E. Hirschsprung's disease with
ganglion cell aplasia of the colon and terminal
ileum. Acta Chir Scand 106:367-368,1953.
22- Swenson O, Fisher J. Treatment of
Hirschsprung's disease with the entire colon
involved in aganglionic defect. AMA Arch Surg
70:1955. 1955
23- Kimura K, Nishijima E, Muraji T, et al: Extensive
aganglionosis: Further experience with the colonic
patch graft procedure and long-term results. J
Pediatr Surg 23:52-56,1988
24 Ziegler MM, Ross AJ, Bishop HC. Total intestinal
aganglionosis of the colon: A new technique for
prolonged survival. J Pediatr Surg 22:82-83, 1987
25- Smith BM, Steiner RB, Lobe TE. Laparoscopic
Duhamel pull-through procedure for
Hirschsprung's disease in childhood. J
Laparoendosc Surg 4:273-276. 1994
26- Bonnard A, de Lagausie P, Leclair M, et al.
Definitive treatment of extended Hirschsprung's
disease or total colonic form. Surg Endosc 15:1301-
1304. 2001
27 Coran A. A personal experience with 100
consecutive total colectomies and straight ileoanal
endorectal pull-throughs for benign disease of the
colon and rectum. Ann Surg 212,242-247, 1990
28- Henry S. Tilneya, Vasilis Constantinidesa, et al:
Pouch-anal anastomosis vs straight ileoanal
anastomosis in pediatric patients: a meta-analysis J
Pediatr Surg 41, 1799–1808, 2006.
29- Holschneider AM: Komplikationen nach
chirurgische therapiedes morbus Hirschsprung
Chirurg S3:41 S-423. 1982
Vol .5, No 3, July 2009
 Hashish A. et al.

30- Escobar MA, Grosfeld JL, West KW, et al. aganglionosis: a 32-year experience. J Pediatr Surg
Long-term outcomes in total colonic 40:955-961. 2005.

Annals of Pediatric Surgery 160