Total colonic aganglionosis with or without small bowel involvement: A changing profile

Total Colonic Aganglionosis With or Without Small Bowel Involvement: A Changing Profile By Sachiyo

Suita,

Tomoaki

Taguchi, Tetsuro Fukuoka, Japan

Background/Purpose:To identify recerit trends in the diagnosis, and treatment of total colonic aganglionosis with or without small bowel invo!vement (TCSA), the authors analyzed the findings in 107 patients who had TCSA seen between 1988 and 1992 at 147 medical institutions throughout Japan and compared the results with those of a previous survey conducted between 1978 and 1982. Resu/ts:The estimated incidence of total colonic aganglionosis was 1 in 58,084 live births, the male to female ratio was 1.5:1, and the incidence of associated anomalies was 15%. These findings were all very similar to those of the previous survey. Ten years ago, 83.6% of all patients underwent Martin’s procedure. In the recent survey, this rate had fallen to 52.1%, and a right colon patch method has also been developed as a new procedure. A marked decrease in the overall mortality rate from 40.9% to 21.5% was observed.

I

N RECENT YEARS, research on Hirschsprung’s disease has been largely directed toward the histochemical findings. More recently, genetic studies have also been of great interest.le6 However, from a clinical point of view, there are still many difficulties in managing total colonic aganglionosis with or without small bowel involvement (TCSA). To identify and describe some recent changes in the diagnosis and treatment of total colonic aganglionosis in Japan, we compared the results of a nationwide survey conducted between 1988 and 1992 at 147 medical institutions with the findings of a previous survey conducted between 1978 and 1982.7.8 MATERIALS

AND

METHODS

To compare the results with the previous survey conducted between 1978 and 1982,7,8 almost the same questionnaire, dealing with the individual patient’s data regarding the general profile, diagnosis, and treatment of Hirschsprung’s disease, was sent to the departments of Pediatric Surgery at all major institutions throughout Japan. These were the same institutions as those surveyed in the previous survey and also included five newly developed children’s hospitals. The completed forms of 1,121 patients who had Hirschsprung’s disease were returned from 147 medical institutions. Among the 1,121 patients who had Hirschsprung’s disease, 107 patients who had TCSA were selected and their data analyzed. These results were then compared with the 137 patients who had TCSA in the previous survey. As indicated in the first survey, we classified TCSA into two categories: total colonic aganglionosis (TCA), which was aganglionosis of the total colon including those patients who had aganglionosis involving as much as 30 cm of the terminal ileum, and extensive aganglionosis (EA), which was defined as aganglionosis extending proximally for more than 30 cm from the ileocecal valve. JournalbfPediatricSurgery,

Vol32,Noll

(November),1997:pp

1537-1541

Kamimura,

and Keiko Yanai

However, a high mortality small bowel involvement plicated with enterocolitis.

rate persists (33.3%); most

in those cases with such cases are com-

Conclusions: Although the general features of TCSA were similar to those in the previous survey, a substantial improvement in the treatment results for TCSA has occurred. However, further efforts are still required both to prevent and more effectively to treat enterocolitis, especially in cases involving any aganglionosis extending into small bowel. J Pediatr Surg 32:1537-1541. Copyright o 1997 by VW. Saunders Company. INDEX WORDS: Hirschsprung’s onosis, extensive aganglionosis, colon patch method.

disease, total colonic agangliMartin’s procedure, right

RESULTS General

Features

A total of 1,121 cases of Hirschsprung’s disease were collected from 147 medical institutions from 198X to 1992 in Japan (Table 1). Among them, 107 patients were classified as having TCSA, thus comprising 9.7% of all aganglionosis cases. Of 107 patients, 50 had total colonic aganglionosis (TCA), whereas 57 had extensive aganglionosis (EA). The estimated incidence of TCSA was 1 in 58,084 live births; the male to female ratio was 1.5: 1. The incidence of a family history of Hirschsprung’s disease was 7.5%, which was less than that in the previous survey (12.4%); however, this incidence was higher when it was compared with the overall incidence of 2.8%. The incidence of associated anomalies was 15.2%. Cardiovascular anomalies were present in 4.7% of the patients who had TCSA in this study, whereas they were less frequently seen in the previous survey (0.7%). Down’s syndrome was prominent (7.1%) in patients who had

From the Department of Pediatric Surgery, Faculty of Medicine, Kyushu University 3-l-l Maidashi, Higaslzi-ku, Fukuoka, Japan. Presented at the 30th Annual Meeting of the Pacific Association of Pediatric Surgeom, Phoenix, Arizona, May 9-13, 1997. Address reprint requests to Sachiyo Suita, MD. Department of Pediatric Surgery, Faculty of Medicine, Kyushu University, 3-l-I Maidashi, Higashi-ku, Fukuoka 812-82, Japan. Copyright 0 1997 by WB. Saunders Company 0022-3468/97/3211-0003$03.00/O

1537

1538

SUITA

Table No. of Patients

1. Clinical

Characteristics

Average Birth Weight (gl

MakFemale

Family History (%)

1978.1982

1988.1992

1978.1982

1988.1992

1978-1982

1988-1992

1638

1121 107

3.0:1 1.5:1

3.4: 1 1.5:1

3218.3 3132.7

3140.4

3.0

50 57

2.4:1 0.8:1

I.&l 1.4:1

3117.4 3153.2

2986.4 2944.4

12.4 12.7

3022.6

12.5

All patients TCSA TCA EA

135 79 56

overall Hirschsprung’s disease, whereas chromosomal anomalies were less frequent (1.0%) in the TCSA cases (Table 2). Diagnosis Two-thirds of the patients who had TCSA were diagnosed in the first month of life. Regarding the method of diagnosis, a barium enema (77.1% of the patients), anorectal manometry (50.5%), and histochemical study for the acetylcholinesterase (AChE, 43.8%) were performed. All were less frequently used than in the patients who had the classical form of Hirschsprung’s disease. However, the percentage of cases with a histochemical evaluation increased to 43.8% compared with 23.4% in the previous survey. A full-thickness biopsy and open biopsy were more frequently performed in the TCSA cases, compared with classical form; namely 21.9% versus 12.9% in full-thickness biopsy and 37.3% versus 5.9% in open biopsy, respectively. This was also similar to the observations of the previous survey (Table 3). Preoperative Enterocolitis The overall incidence of preoperative enterocolitis was 52.3%. Although this rate was higher than that of the previous survey, the mortality rate decreased to 19.6% showing improvement compared with the previous survey, particularly in patients who had TCA, for whom the frequency was reduced from 25.7% to 4.2%. However, a high mortality rate (28.1%) was present in the patients who had EA. In this group, the incidence of preoperative enterocolitis was also high (56.1%). Table 2. Associated

1978-1982

syndrome

2 Cardiovascular 3 lnguinal hernia 4 Malrotation

anomalies

5 Cleft lip and palate TCSA 1 Malrotation 2 Intestinal atresia 3 Meckel’s diverticulum 4 Down’s syndrome 4 Cardiovascular

anomalies

Associated

Anomalies

1978.1982

1988.1992

2.8 7.5

11.1 15.2

16.3 15.0

8.0 7.0

11.3 21.4

16.0 14.0

An enterostomy was performed in 102 patients: an ileostomy in 75 patients, a jejunostomy in 24 patients, and colostomy in 3 patients. The age at the time of enterostomy ranged from 0 to 221 days with an average of 17.0 + 36.0 days in patients who had EA and 33.6 ? 48.2 days in patients who had TCA. Definitive Operation Definitive operations were performed in 71 patients. The average age at operation was 447 days, ranging from 30 to 2,310 days. Of all patients classified as EA 65.4% underwent a definitive operation before 1 year of age, whereas 51.2% of patients who had TCA were operated on before 1 year of age (Fig 1). Ten years earlier, 83.6% of the patients were operated on by Martin’s procedure, whereas the present survey showed that frequency of Martin’s procedures has been reduced to 52.1%. A right colon patch method was newly developed and has been used with more frequency for definitive surgery (16.9%, Fig 2). The overall mortality rate was 5.6%, which was almost one third the rate in the previous survey (14.9%, Table 4). Results of Treatment of TCSA Both the mortality rate and extent of aganglia in the two surveys are shown in Fig 3. The longer the extent of aganglionosis, the higher the mortality rate in both surveys. Although a significant improvement in the mortality rate for patients who had aganglionosis was Anomalies 1988.1992

181 47 41 11

(11.1%) (2.9%) (2.5%) (0.7%)

10 (0.6%) 9 (0.6%) 20 (15.2%) 5 (3.6%) 4 2 1 1

(2.9%) (1.5%) (0.7%) (0.7%)

(%)

1988.1992

Enterostomy

1978-1982

All patients 1 Down’s

ET AL

All patients 1 Down’s

181 (16.3%) syndrome

2 Cardiovascular anomalies 3 Malrotation 4 Mental retardation 5 intestinal atresia TCSA 1 Cardiovascular anomalies 2 Cleft lip and palate 3 intestinal atresia 3 Ondine’s curse 5 Malrotation 5 Deafness

79 (7.1%) 66 (6.0%) 11 (1.0%) 10 (0.9%) 9 10.8%) 16 (15.0%) 5 (4.7%) 4 3 3 2 2

(3.7%) (2.8%) (2.8%) (1.9%) (1.9%)

TOTAL

COLONIC

AGANGLIONOSIS

Table 3. Method

of Diagnosis

1978.1982

Patients

TCSA

All Patients

TCSA

95.8%

80.3%

93.9%

77.1%

64.7% 28.7%

41.6% 23.4%

68.7% 62.1%

50.5% 43.8%

23.5% 10.7%

20.4% 40.9%

12.9% 5.9%

21.9% 37.3%

All

Barium

enema

Manometry AChE staining Full-thickness Open

biopsy

biopsy

1988.1992

seen, especially regarding the mortality rate for TCA, which decreased from 30.4% to 8.0%, a high mortality rate for patients who have EA still exists. In particular, the mortality rate for patients who have EA with aganglionic bowel extending orad to 75 cm from ligament of Treitz is high, 59.1%, in the most recent survey (Table 5). Causes of Death Sepsis was the most frequent cause of death (73.9%). Hepatic failure after long-term parenteral nutrition (13.0%) and pneumonia (8.7%) were also important causes of mortality. Of the septic patients, 84.6% experienced complications with enterocolitis and died before a definitive operation was performed. Particularly in the patients who had EA, 16 of the 19 who underwent enterostomy, died before a definitive operation. DISCUSSION

Total colonic aganglionosis with or without small bowel involvement (TCSA) is an uncommon variant of Hirschsprung’s disease; the incidence of TCSA has been recognized to be about 8% to 12% of all patients who have Hirschsprung’s disease.9-1l The incidence observed in our most recent survey was 9.7%, whereas it was 8.4% in the previous survey.8 The sex ratio, birth weight, gestation, and ages at presentation were similar to both the findings of our previous survey as well as to those 8 Number of patients

1

IJ TCA

Others Soave * Duhamel(4.5%y Swenson (7.5%y Duhamel (1.5..5%)( Rt. colon patch (16.9%) Martin (83.6%) i Martin (52.1%) /

1978-1982 (n = 67)

1988-1992 (n = 71)

Fig 2. A definitive operative procedure performed for TCSA. Ten years ago, 83.6% of such patients underwent Martin’s procedure, whereas in the most recent survey, this rate had fallen to 52.1%. In addition, the right colon patch method has been used as an alternative treatment.

reported in many other series. Familial occurrence in the present survey was somewhat lower than that seen in the previous survey (7.5% v 12.4%); however, it was much higher than that seen in cases involving the classical form of Hirschsprung’s disease (7.5% v 2.8%). Since Martucciello et al3 reported a case of TCSA with a chromosome 10 long-arm interstitial deletion, several studies regarding the genetic factors related to Hirschsprung’s disease have been reported, and today, genetic factors are being closely evaluated to better understand the disease pathogenesis of Hirschsprung’s disease, particularly in TCSA.4-6,12,13In this survey, however, no information was obtained regarding genetic factors, because only the patients diagnosed between 1988 and 1992 were included in this survey. We will try to collect information about genetic factors in the next survey 10 years later. Regarding associated anomalies, craniofacial, cerebral, and cardiac anomalies were most frequent. Cardiovascular anomalies were the most common seen in this survey. In the previous survey, cardiovascular anomalies were only associated with one case. The reason for the increased occurrence of cardiovascular anomalies is unknown. However, the classical form of Hirschsprung’s disease also had an increased association of cardiovascular anomalies, thus suggesting that because of improved Table 4. Mortality

Rate After

a Definitive

Operation

1978.1982

Number 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 'ZU 21 Z 21 24 Age

(months)

Fig 1. The age at which a definitive operation was performed. Most patients who had TCA were operated on between 6 and 16 months of age, whereas an early operation was performed in patients who had EA. Two patients who had TCA and three patients who had EA were operated on after 25 months of age.

Martin’s procedure Right colon patch Without patch Total

and Swenson.

1988.1992

Number

Mortality Rate

56 0

12.5%

37 12

8.1% 0%

11 67

27.2%

22 71

4.5% 5.6%

NOTE. Right colon patch involved and Boley.‘8,‘9 Procedures without Soave,

Mortality Rate

14.9%

procedures described by Kimura patch are described by Duhamel,

1540

SUITA

1978-1982

ET AL

1988-1992 cm distal from Treih’s Band)

proximal from the ileum end, km distal from Treifz’s Band)

cm proximal from the ileum end, distal from Twit& Band)

: 3 128 (10.7%)

* Sufficient data were not available for 7 cases with EA (1988-1992)

perinatal care, the patients who had cardiovascular anomalies can survive longer and be diagnosed and undergo treatment for Hirschsprung’s disease more frequently than seen in the previous survey. Down’s syndrome is thought to be more prevalent than cardiovascular anomalies, although it occurs mainly in classical short-segment Hirschsprung’s disease. I4 However, only one patient had Down’s syndrome in the previous survey, whereas none of the patients who had TCSA in this survey had Down’s syndrome. A diagnosis of TSCA is thought to be more difficult to obtain than that of the classical form of Hirschsprung’s disease. The inaccuracy of radiological studies in the diagnosis of TSCA has been well documented.15 Plain abdominal x-rays usually suggest a low bowel obstruction, whereas a barium enema shows no particular diagnostic findings of TSCA. Therefore, an open biopsy is required in some cases, and in this survey, 37.3% of the patients underwent an open biopsy, which was less than in the previous survey. However, the rate was still significantly higher than that in patients who had a classical form of Hirschsprung’s disease. A variety of operative procedures have been advanced to perform a definitive operation for TCSA, including a rectosigmoidectomy with sphincter preservation (SwenTable 5. Extent

of Aganglionosis

All patients Colonic aganglionosis TCSA TCA EA 575 cm distal from >75 cm distal from

Trek’s Trek’s

band band

and Mortality 1978-1988

1988.1992

7.1% 4.1%

4.9% 3.2%

40.9% 30.4% 53.6% 70.6% 32.4%

21.5% 8.0% 33.3% 59.1% 10.7%

Fig 3. The relationship of the extent of aganglionosis and its mortality.

son et a115),a rectorectal transanal pull-through (Desjardins and Simpson16), the Martin modification of the Duhamel procedure,17 an endorectal pull-through procedure (Boley modification of the Soave procedure18), right colon patch grafts (Kimural and Boley’*), and a small bowel myectomy coupled with an extended myotomy (Ziegler et alzO).The Martin modification of the Duhamel procedure was designed to increase water absorption by using a long side-to-side anastomosis of the ganglionic ileum with the aganglionic colon. Right colon patch grafts were developed to take advantage of the enhanced water absorption of the right colon. Shermeta et a12’ reported the usefulness of a short segment of the right colon patch graft measuring 10 cm in length because it is simple to perform, associated with minimal side effects, and also yields gratifying results. Ten years ago, Martin’s procedure was clearly the most common procedure (83.6%), but in the present survey this procedure was performed for only 52.1% of the patients. Right colon patch procedures were performed in 16.9% of all cases. This had not been performed at all at the time of the previous survey. The GIA stapler devices were used for many cases in the present survey. In the present study, the mortality rate after Martin’s procedure was &I%, whereas in the previous study it was 12.5%. No deaths were reported after the right colon patch procedures. A definitive operation was usually performed between 12 and 24 months of age. *0,14Ten years ago, 97.0% of patients were operated on after more than 7 months of age, whereas in the present survey, five patients were operated on before 6 months of age, and four of the five included patients who had EA. Enterocolitis is the most common and lethal complication of TCSA; 23 of the 107

TOTAL

COLONIC

1541

AGANGLIONOSIS

cases died of enterocolitis. Seventy percent of these deaths occurred before a definitive operation could be performed, which thus means an early resection of aganglionic intestine is strongly recommended before enterocolitis occurs followed by sepsis and multiple organ failure, which then ultimately leads to death. Recent advances in the management of Hirschsprung’s disease and improved techniques such as using a GIA stapler, particularly ENDO-GIA (US Surgical Co>, have now made an early definitive operation safe and beneficial even in the patients who have TCSA.22-24 Finally, our results show that the general features of

TCSA have not substantially changed. However, there has been a clear change in the operative methods and a marked improvement in the results of treatment for TCSA. Nevertheless, further efforts are still called to prevent and treat enterocolitis, particularly regarding the treatment of EA with aganglionic bowel extending orad to 75 cm from Treitz’s band. ACKNOWLEDGMENTS The authors thank all members of the Japanese Society of Pediatric Surgeons who kindly responded to our questionnaire. The authors also thank Mr B. Quinn for editorial advice on this manuscript.

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