www.elsevier.com/locate/jpedsurg

Journal of Pediatric Surgery (2008) 43, 1696–1699

Long-term clinical outcome in patients with total colonicaganglionosis: a 31-year reviewMaria Menezes, Alessio Pini Prato, Vincenzo Jasonni, Prem Puri ⁎

Childrens Research Centre, Our Ladys Childrens Hospital, Dublin-12, IrelandGiannina Gaslini Institute, University of Genoa, Genoa, Italy

Received 12 October 2007; revised 24 January 2008; accepted 30 January 2008

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Key words:Total colonicaganglionosis;

Long-term bowelfunction

AbstractBackground: The purpose of this study is to review the long-term clinical outcome in patients surgicallytreated for total colonic aganglionosis (TCA).Methods: The hospital records of 58 patients with TCA from 2 centers were retrospectively analyzed.These patients were then followed up by personal or telephonic interviews using a standardizedquestionnaire.Results: Of the 58 patients, 36 were male and 22 were female. Thirty-eight patients presented in theneonatal period. A total of 13 (22.4%) presented with enterocolitis, 43 (74.1%) with intestinalobstruction, and 2 (3.5%) with severe constipation. All patients had disease involving the entire colonup to at least the terminal ileum. Two patients had total intestinal aganglionosis and died after ileostomy.Various pull-through procedures performed in 56 patients included Soave in 16, Swenson in 5, andDuhamel in 35 patients.Postoperatively, 31 (55.4%) patients had enterocolitis. At long-term follow-up(2-31 years), 3 patients had opted for permanent ileostomies because of intractable incontinenece orrecurrent enterocolitis. Eleven patients were too young to assess bowel function or unavailable forfollow-up. Of the remaining 42 patients, 22 had normal bowel control and 20 were soiling. At 5 years,patients had an average of 5.2 bowel movements per day, which reduced to a mean of 3.4 per day at theage of 15 years.Conclusion: Patients with TCA continue to have long-term problems with bowel control, although manyimprove with time.© 2008 Elsevier Inc. All rights reserved.

Total colonic aganglionosis (TCA) is known to occur in3% to 15 % of cases of Hirschsprung disease [1-8]. For along time, it has been known to be associated with a highdegree of morbidity and mortality [9-11]. However, with

⁎ Corresponding author. Childrens Research Centre, Our Ladyshildrens Hospital, Crumlin, Dublin-12, Ireland. Tel.: +353 1 4096420.E-mail address: prem.puri@ucd.ie (P. Puri).

022-3468/$ – see front matter © 2008 Elsevier Inc. All rights reserved.oi:10.1016/j.jpedsurg.2008.01.072

recent advances in surgical techniques and meticulous pre-and postoperative management of the patient, the mortalityrate has significantly reduced. Few studies have evaluatedthe long-term clinical outcome and bowel function inpatients with TCA, which would reflect the long-termmorbidity associated with these cases. Hence, the purpose ofthis study was to review the long-term clinical outcome inpatients surgically treated for TCA.

Table 2 Postoperative complications following pull-throughprocedures in patients with TCA

Type ofpull-throughprocedure

Enterocolitis Strictures Intestinalobstruction

Anastomoticleak

Soave 9 4 - -Swenson 3 3 - -Duhamel 19 4 2 1

1697Long-term clinical outcome in patients with TCA

1. Methods

The hospital records of 58 consecutive patients with TCAfrom 2 European centers from 1975 to 2005 wereretrospectively analyzed. There were a total of 259 patientswith Hirschsprung disease from Dublin and 254 from Genoaduring this time period. Data were analyzed for age atpresentation, sex, clinical presentation, associated anoma-lies, investigations performed, level of aganglionosis,surgical management, and postoperative complications.These patients were then followed up by personal ortelephonic interviews using a standardized questionnaire.Normal bowel control was defined as patients having regularbowel movements, without soiling and without the use oflaxatives, enemas, or washouts. Enterocolitis was diagnosedon the basis of clinical features of diarrhea, pyrexia,abdominal distension, blood in the stools, and vomiting.The χ2 test of significance was used to compare thecontinence rates between the various types of pull-throughprocedures performed.

2. Results

Of the 58 patients with TCA, 36 (62%) were male and 22(38%) were female.

A total of 38 patients presented in the neonatal period and19 after the neonatal period. There were 13 (22.4%) whopresented with enterocolitis, 43 (74.1%) with intestinalobstruction, and 2 (3.5%) with severe constipation. Allpatients had histologically proven Hirschsprung diseaseinvolving the entire colon up to at least the terminal ileum.Bowel involvement was up to the terminal ileum in 54 (93%)and up to mid-ileum in 2 (3.5%). Two (3.5%) patients hadtotal intestinal aganglionosis. Associated anomalies areshown in Table 1. Five (8.6%) patients had family historyof Hirschsprung disease: 3 siblings, 1 parent, and 1 cousin. Aprimary stoma was performed in 56 (96.6%) patients, with aview to a subsequent pull-through, and a primary pull-through was performed in 2 (3.4%) patients. Various pull-through procedures were performed: Soave in 16, Swensonin 5, Duhamel in 35 patients. Two patients with totalintestinal aganglionosis died after ileostomy.

Postoperatively, 31 (55.4%) patients had one or moreepisodes of enterocolitis. Eleven (19.6%) patients devel-

Table 1 Associated anomalies

Cardiac anomalies 4Down syndrome 2Mental retardation 3Renal anomalies 4Visual defects 2Ondine curse 1

oped strictures or had residual segment disease, requiringredo pull-through procedures. One (1.8%) patient had ananastomotic leak, and 2 (3.6%) patients had intestinalobstruction requiring laparotomy and adhesiolysis. Thevarious postoperative complications with respect to the typeof pull-through procedure are shown in Table 2. Twopatients underwent anal dilatation/botox injections, and3 required internal sphincterectomies to treat recurrentepisodes of enterocolitis. Median follow-up was 12.5 years(range, 2-31 years). At long-term follow-up, 3 patients hadopted for permanent ileostomies because of intractableincontinenece or recurrent enterocolitis, 2 patients had died,and 3 were unavailable for follow-up. Eight patients weretoo young to assess bowel function. Of the remaining42 patients, 22 (52.4%) had normal bowel control, and 20(47.6%) were soiling. There was no statistically significantdifference in soiling between the various pull-throughprocedures performed (Table 3). By the age of 5 years,these patients had an average of 5.2 bowel movements perday, which reduced to a mean of 3.4 per day at the age of15 years. Normal bowel control was achieved in 22 patientsby average age of 7.6 years. Failure to thrive in terms ofbody weight and height (below third percentile) wasassessed in 34 of the 42 patients at long-term follow-up.Only 2 (4.7%) patients had failure to thrive at long-termfollow-up.

3. Discussion

Total colonic aganglionosis is a severe form ofHirschsprung disease, which in the past was associatedwith a high mortality rate, ranging from 50% to 90%[9,11]. However, in the last 2 to 3 decades, several

Table 3 Bowel function at long-term follow-up

Pull-through procedure Normal Soiling ⁎

Soave 7 (50) 7 (50)Swenson 2 (50) 2 (50)Duhamel 13 (54.2) 11 (45.8)

Values are expressed as number (percentage).⁎ P N .05.

1698 M. Menezes et al.

advances in surgical techniques, improved histochemicaltechniques, awareness of the condition, early diagnosis,and vastly improved postoperative care, including parent-eral nutrition, have led to a drop in the mortality rate toless than 20%. In our series, the mortality rate was 3.6%,and both the cases who died had total intestinalaganglionosis. The male-to-female ratio in Hirschsprungdisease is reported to be 3:1 to 4:1, and the sex ratiodecreases as the aganglionosis becomes more extensive[11,12]. In our study, the male-to-female ratio was 2:1. Asseen in other series [7], most of the cases in our studypresented in the newborn period, with only a thirdpresenting later. Two patients that presented late, presentedwith severe constipation. Some others were diagnosed latewith TCA because of previous misdiagnosis at othernonneonatal centers before referral. These patients oftenundergo laparotomies and erroneous procedures because offailure in achieving an accurate diagnosis, and hence,appropriate treatment is often delayed. The greater is theextent of aganglionosis, the greater is the morbidity. In ourseries, the 2 cases with total intestinal aganglionosis didnot survive beyond ileostomy formation. Classical segmentHirschsprung disease has been reported to have the lowestrate of familial occurrence (1%-7 %), and this increases to21% in TCA [12]. However, in the present series, thefamilial incidence was 8.6%. Various associated anomaliesreported with Hirschsprung disease [12] were also seen inthis series of TCA. Although the standard pull-throughprocedures of Swenson, Martin modifications of theDuhamel and Endorectal pull-through have been used fortreatment of TCA, the colon patch graft procedure hasshown considerable promise [4,13]. Right colon graftswere developed to take advantage of the enhanced waterabsorption of the right colon. The Martin modification ofthe Duhamel procedure was designed to increase waterabsorption using a long side-to-side anastomosis of theganglionic ileum with the aganglionic colon. In our series,various surgical procedures were carried out based on thesurgeon's preference. We have no experience with thecolon patch graft.

Many of these patients underwent several surgicalprocedures because of misdiagnosis and delayed referral.Fashioning a stoma in aganglionic intestine was the mostcommon erroneous procedure. Most of the cases in thisseries had a primary stoma formation followed by a pull-through procedure at a later date. However, 2 patientsunderwent a primary pull-through procedure. Because thecontrast enema in these 2 cases was reported asrectosigmoid disease, they were commenced as transanalpull-through procedures, and only frozen sections atsurgery confirmed TCA. Hence, they had to undergoprimary pull-through procedures. Among the postoperativecomplications seen in this series, most were enterocolitisand strictures. Out of the 11 patients in this series that hadredo pull-through procedures, 10 of them had a primarypull-through performed at another center before referral,

and they required redo pull-through procedures either forpostoperative strictures or residual segment disease.Increased length of the aganglionic segment has beenassociated with the development of enterocolitis [14,15].However, the rates of post pull-through enterocolitis varyfrom 2% to 27 % in patients with Hirschsprung disease[14]. In this series, 55% of cases with TCA had one ormore episodes of enterocolitis postoperatively, which iscomparable to some series [3]. Five patients required analdilatations, botox injections, or sphincterectomies to treatthe episodes of enterocolitis.

It is generally reported that bowel function in patientswith Hirschsprung disease improves with time [16,17].Few studies have evaluated the long-term bowel functionin patients with TCA [1-3,10,13]. Escobar et al [2] foundthat 81% of patients with TCA were continent at long-termfollow-up, whereas Wildhaber et al [1] noted occasionalsoiling in 38% of patients with TCA, with one third ofthese partially incontinent. Tsuji et al [3] found 82% ofTCA patients incontinent at 5 years follow-up, but thisreduced to 57% at 10 years and 33% at 15 years follow-up. However, in the present series, 47.6% of patients werefound to be incontinent at long-term follow-up, and onlyone third of these were occasional. There was nostatistically significant difference in soiling between thevarious pull-through procedures performed. Normal bowelcontrol was achieved in 52.4% of cases by an average ageof 7.6 years. Most studies have found that postoperatively,patients with TCA have 3 to 6 bowel movements per day[1-3,10,13], and some have shown that the frequency ofbowel movements tend to decrease with increasing age, asseen at long-term follow-up [3,13]. Our findings weresimilar to these, wherein patients had an average of 5.2bowel movements per day at 5 years of age, whichreduced to an average of 3.4 bowel movements per day at15 years of age. There was no significant difference inlong-term stooling frequency rates between the variouspull-through procedures performed. Irrespective of the typeof pull-through procedure used, patients with TCAcontinue to have long-term problems with bowel control,although many improve with time.

References

[1] Wildhaber BE, Teitelbaum DH, Coran AG. Total colonic Hirsch-sprung's disease: a 28-year experience. J Pediatr Surg 2005;40:203-7.

[2] Escobar MA, Grosfeld JL, West KW, et al. Long-term outcomes intotal colonic aganglionosis: a 32-year experience. J Pediatr Surg 2005;40:955-61.

[3] Tsuji H, Spitz L, Kiely EM, et al. Management and long-term follow-upof infants with total colonic aganglionosis. J Pediatr Surg 1999;34(1):158-62.

[4] Emslie J, Krishnamoorthy M, Applebaum H. Long-term follow-up ofpatients treated with ileoendorectal pull-through and right colon onlaypatch for total colonic aganglionosis. J Pediatr Surg 1997;32(11):1542-4.

1699Long-term clinical outcome in patients with TCA

[5] N-Fekete C, Ricour C, Martelli H, et al. Total colonic aganglionosis(with or without ileal involvement): a review of 27 cases. J PediatrSurg 1986;21(3):251-4.

[6] Hoehner JC, Ein SH, Shandling B, et al. Long-term morbidity in totalcolonic aganglionosis. J Pediatr Surg 1998;33(7):961-6.

[7] Suita S, Taguchi T, Kamimura T, et al. Total colonic aganglionosis withor with out small bowel involvement: a changing profile. J Pediatr Surg1997;32(11):1537-41.

[8] Ludman L, Spitz L, Tsuji H, et al. Hirschsprung's disease: functionaland psychological follow up comparing total colonic and rectosigmoidaganglionosis. Arch Dis Child 2002;86:348-51.

[9] Levy M, Reynolds M. Morbidity associated with total colonHirschsprung's disease. J Pediatr Surg 1992;27(3):364-7.

[10] EndoM,Watanabe K, Fuchimoto Y, et al. Long-term results of surgicaltreatment in infants with total colonic aganglionosis. J Pediatr Surg1994;29(10):1310-4.

[11] Jasonni V, Martuciello G. Total colonic aganglionosis. SeminarsPediatr Surg 1998;7(3):174-80.

[12] Engum SA, Petrites M, Rescorla FJ, et al. Familial Hirschsprung'sdisease: 20 cases in 12 kindreds. J Pediatr Surg 1993;28(10):1286-90.

[13] Nishijima E, Kimura K, Tsugawa C, et al. The colon patch graftprocedure for extensive aganglionosis: long-term follow-up. J PediatrSurg 1998;33(2):215-9.

[14] Teitelbaum DH, Coran AG. Enterocolitis. Seminars Pediatr Surg 1998;7(3):162-9.

[15] Coran AG, Teitelbaum DH. Recent advances in the management ofHirschsprung's disease. Am J Surg 2000;180:382-7.

[16] Yanchar NL, Soucy P. Long-term outcome after Hirschsprung'sdisease: patients' perspectives. J Pediatr Surg 1999;34(7):1152-60.

[17] Menezes M, Corbally M, Puri P. Long-term results of bowel functionafter treatment for Hirschsprung's disease: a 29-year review. PediatrSurg Int 2006;22:987-90.