- Email: [email protected]
Management and long-term follow-up of infants with total colonic aganglionosis
Management
and Long-Term Follow-Up of Infants Total Colonic Aganglionosis By
H. Tsuji,
L. Spitz,
E.M.
Kiely,
London,
Be&ground/Purpose: Although the survival rate for the infants with total colonic aganglionosis (TCA) has improved significantly, problems with the surgical management continue and the long-term consequences for growth and continence are poorly documented. The aim of this study was to review the experience in the management of 48 patients over a 17.year period (1980 to 1996). Methods: The medical records of all patients were analyzed with particular emphasis on the number and type of surgical procedures, the attainment of anorectal continence, number of stools per day, and physical development. Resu/ts:There were 30 boys and 18 girls. Three (6%) patients died: one of sepsis, one of associated major congenital cardiac anomaly, and one of Moebius syndrome and brain stem dysfunction. Forty-one patients (85%) went on to undergo a pull-through procedure: 38 Duhamel with 13 having Martin modification and three with Soave procedure. Inappropriate surgery (47 procedures) were carried out in 19 (40%) patients before the definitive diagnosis; only four of these infants were admitted primarily to our unit. Thirteen patients had a stoma in aganglionic intestine. An ileostomy was closed in six infants before the diagnosis was established, and six had a previous “negative” laparotomy. Long-term follow-up was possible in 27 patients, of whom 19 (70%) required a total of 39 additional procedures. Ten patients
U
NTIL RELATIVELY RECENTLY, total colonic aganglionosis (TCA) was associated with a high mortality and morbidity rate.‘,? Although the mortality rate has decreased significantly in recent years, these patients tend to undergo multiple procedures and experience frequent perioperative complications.3-5 The longterm continence rate and anthropometry details of the patients are poorly documented. This review was undertaken to assess the results of management of TCA in a single institution during the recent past.
D.P. Drake,
and
With
A. Pierro
England
underwent a total of 16 anal dilatations and six underwent sphincterotomy. A permanent stoma was necessary in six patients (two with Down’s syndrome). Two patients with Martin modification required resection of the side-to-side anastomosis for intractable diarrhea. The number of the stools per day decreased yearly. Fecal incontinence was common at the 5-year follow up (82%). However, at 10 and 15 years, the rate of incontinence decreased to 57% and 33%, respectively. The proportion of patients below the second percentile for body weight were 25% at 5 years, 20% at 10 years, and 63% at 15 years of age. The equivalent statistics for body height were 15%. 0%. and 23%, respectively. Conclusions: Patients with TCA tend to undergo multiple procedures. Anorectal function improves gradually over time. There are no advantages of the Martin modification. In the long-term follow-up over half of the patients are below the second percentile for weight and one quarter are below the second percentile for height. Careful long-term follow-up is necessary for the patients with TCA. J Pediatr Surg 34:158-162. Copyright rg 1999 by W.B. Saunders Company. INDEX onosis.
WORDS:
Hirschsprung’s
MATERIALS
disease,
AND
total
colonic
agangli-
METHODS
A retrospective review of all patients with total colonic aganglionosis (TCA) treated at the Great Ormond Hospital for Sick Children (GOS) from 1980 to 1996 was undertaken. The medical records of these patients were analyzed with particular emphasis on the number and type of surgical procedures performed, the complications that occurred, the acquisition of anorectal continence. and body growth. Statistical analyses were performed using unpaired t test and Fisher’s Exact test.
RESULTS
The Patients Franz the DepartmeM of Pediatric Surgery Great Ornzond Street Hospitalfor Children, London, Englaild. Presented nt the 29th Anrnml Meeting of the American Pediatric Surgical Association, Hilton Head. South Carolina. May 10-13, 1998. Address reprint requests to Professor Lewis Spitz,, PhD, FRCS. of Child Health. 30 Department of Paedintric Srrrgeyv, Iwtitute G&ford St, Lorzdon WCIN lEH, England. Copyright 0 1999 by WB. Saunders Contpa~~ 0022-3468/99/3401-0031$03.00/O
158
Forty-eight children with TCA were treated between 1980 and 1996, of whom, 30 (63%) were boys, and 18 were (37%) girls (ratio 1.7: 1). Their mean gestational age was 39.3 weeks (range, 35 to 42 weeks) and mean birth weight 3,127 g (range, 2.510 to 3800 g). A positive family history was present in 10 cases (21%). Three (6%) patients died: one of sepsis, one of associated major Journalof
Pediatric
Surgery,
Vol34,
No 1 (January),
1999: pp 158-162
TOTAL
COLONIC
159
AGANGLIONOSIS
congenital cardiac anomaly. and one of Moebius syndrome and brain stem dysfunction. As.sociuted Anomalies Associated anomalies were identified in 17 (35%) patients. These included six gastrointestinal anomalies (malrotation, two; duodenal stenosis and gastroesophageal rrflux. three); three urogenital (renal agenesis, two; hypospadia, one); three Down’s syndrome; three cardiovascular (ventricular septal defect, atria1 septal defect, Fallot’s tetralogy): two musculoskeletal (claw hands, Moebius syndrome); and three miscellaneous anomalies. Preseruing Fe
The extent of aganglionosis extended to the ileocecal junction in 23 patients, to within 30 cm of the cecum in 18. to between 30 and 60 cm in three, between 60 and 90 cm in one. and involved more than 90 cm of ileum in three patients. Irmpproprirrte Surgety Before Diagnosis A total of 19 (40%) patients underwent a total of 47 surgical procedures before the definitive diagnosis of TCA was established (Fig 1). The most common error was fashioning a stoma in aganglionic intestine. Even when the stoma had been created in ganglionic bowel. closure took place in six patients without the diagnosis of 19 patie;nts (40%)
,I Stoma 19 I
inagan> intestine
/13\<
I
’
Resection and anastomosis 6
Laparotamy Only (“negative”)
in ganglionic intestine
’
Adhesion intestinal obstruction
Anal stretch 2
3
1 Closure of stoma without pull-through
19
Fig 1. Inappropriate surgical procedures were 19 patients (40%) and 47 procedures.
before
diagnosis.
There
TCA being appreciated. Six infants underwent a “negative” laparotomy, and, in a further six. a resection of dilated intestine and end-to-end anastomosis was performed before the definitive diagnosis was established. Fifteen of these patients had their procedures carried out before referral to GOS. Procedures Undertden Betcleen Correct Stoma and Dejnitive Pull-Through Thirty additional procedures were performed in 18 (38%) patients between the fashioning of an ileostomy in ganglionic intestine and the definitive pull-through procedure. These included relief of an adhesion intestinal obstruction in 13 patients: refashioning of the stoma because of stenosis or prolapse in 10; drainage of parastomal abscess in two; and one each colectomy, debridement of hematoma of wound; Ladd’s procedure for malrotation; and duodenoduodenostomy. Dejnitive Pull-Through Procedure Forty-one (88%) patients underwent a pull-through procedure. which comprised a standard Duhamel procedure in 25, whereas 13 had an additional Martin modification (Fig 2). Only three patients underwent a Soave endorectal pull-through. Three (6%) patients died, one from overwhelming sepsis in the neonatal period. one from an associated cardiac defect, and one from Moebius syndrome. Three patients have short bowel syndrome caused by extensive aganglionosis and have not undergone a pull-through procedure, and one is still waiting definitive surgery. Enterocolitis Of 26 patients currently undergoing follow-up, 14 (54%) have had enterocolitis on at least one occasion. Six (43%) of 14 patients who had undergone a Duhamel procedure had enterocolitis compared with five (56%) who had undergone a Martin procedure, and all three ( 100%) of those with a Soave pull-through. Arlditiorlnl Procedure After Dejrlitille Pull-Through Thirty-nine further procedures were undertaken in 19 of 27 patients (70%) followed up at GOS (Table 1). The average number of procedures was 1.0 after standard Duhamel (n = 14), 1.4 after Martin modification (n = IO), and 3.7 after Soave operation (n = 3). Sixteen anal dilatations were carried out in 10 patients, whereas six patients required a sphincterotomy (four who underwent Martin procedures and two who underwent Soave pullthrough procedure). Six patients have had to undergo permanent ileostomy because of intractable fecal incontinence or severe perineal excoriation. Two of the three infants with Down’s syndrome have needed permanent
160
TSUJI
Total colonic
Bowel movements/day
aaanalionosis
6 Neonatal
ET AL
death
0
;
All cases
+c*,
2
/I\
Duhamel 25
Awaitina surge+
’
Martin modification
2
* P
1
*’ PC005
Soave 1 5 Fig 3.
Permanent stoma 6 Fig 2.
Definitive
surgical
treatment.
Bowel Control The number of bowel actions tended to decrease with increasing follow-up from a mean of 4.6 per day at 5 years to 3.0 per day at 15 years follow-up (Fig 3). At 5 years, patients who underwent a Martin procedure had significantly less bowel motions per day compared with those who underwent standard Duhamel, but this difference was not sustained at 10 or 15 years. Incontinence was present in 82% of patients at the 5-year follow-up but improved to 57% at 10 years and 33% at the 15 years follow-up. There was no difference between the Duhamel and the Martin procedures. The extent of incontinence is shown in Table 2. Nighttime incontinence was severe enough to warrant a permanent ileostomy in one girl with short bowel syndrome and remains a problem in only one further child at 15 years. Table 1. Additional Procedures Performed After Definitive Pull-Through
Anal stretch Permanent ileostomy Resection residual spur Sphincterotomy Adhesion Resection
obstruction Martin
anastomosis Total NOTE. *Patients
Numbers with
All Cases
Duhamel
Martin
SOaW
(n = 27)
In = 14)
In = 10)
(n = 3)
16 (IO) 6*
7 (5) 3*
4 (3) 2
5 (2) 1
4 6
3 0
1 4
0 2
5 (3)
1
1
3 (1)
0 14
2 14
2 39 in parentheses Down’s
syndrome.
number
of bowel
15 movements
Age (years)
per day.
Anthropometv
stomas. Two patients who had undergone Martin procedures have undergone resection of the long side-to-side ileorectal anastomosis for intractable diarrhea and nighttime incontinence.
Procedure
Age and average
10
represent
numbers
0 11 of patients,
Failure to thrive in terms of body weight (ie, < second percentile) was evident in 25% of patients at 5 years and 10% at 10 years, but had increased to 63% at 15 years. Equivalent statistics for body height (ie. < second percentile) were 15%, O%, and 25%, respectively. DISCUSSION
Total colonic aganglionosis (TCA) constitutes between 5% and 12% of all patients with Hirschsprung’s disease.5.7-11In 17 years, we have treated 350 cases of Hirschsprung’s disease, of which, 48 cases were TCA (14%). The sex ratio, birth weight, and gestational age were similar to those reported in other series.dJ,7,i1 The familial incidence of TCA is higher than that in patients with classical Hirschsprung’s disease.5~8~11~1Z In our series, the incidence of family occurrence was 2 1% (10 patients). Recently, genetic factors, notably the RET proto-oncogene, are being closely evaluated to better understand the disease pathogenesis of Hirschsprung’s disease, particularly involving TCA. l3 Thirty-five percent of our patients had associated anomalies. Gastrointestinal, urogenital, and cardiovascular anomalies were the most common. Down’s syndrome, thought to occur chiefly in classical short-segment Hirschsprung’s disease,5.1”was present in three patients (6%) in our series. The survival rates of patients with TCA has improved recently.]-” In this series, 94% of patients with TCA survived. Meticulous pre- and postoperative management has contribute to this improvement in mortality rate. However, patients with TCA tend to undergo multiple operations attributed to delay in diagnosis and postoperative complication. Before the definitive diagnosis and enterostomy, fortyseven inappropriate procedures were carried out in 19 (40%) patients. Fashioning a stoma in aganglionic intestine was the most common erroneous procedure. Failure to consider the diagnosis and the absence of availability of frozen section histopathology findings was the main
TOTAL
COLONIC
AGANGLIONOSIS
161
reason for these errors. Most of the procedures were performed in hospitals outside of recognized neonatal surgical centers. Eighteen (38%) patients required additional procedures between the fashioning of a correct enterostomy and the definitive pull-through procedure. Adhesion intestinal obstruction and stenosis or prolapse of ileostomy were the most common complications requiring surgical procedures. Additional procedures after the definitive pull-through procedure were necessary in 19 (70%) patients. More than half of the patients have undergone an anal stretch or sphincterotomy for fecal stasis. A permanent ileostomy was necessary in six patients for intractable fecal incontinence or severe perineal excoriation including two of the three patients with Down’s syndrome. The long-term bowel function in children with Hirschsprung’s disease and Down’s syndrome is reported to be poor. I4 The decision to proceed to pull-through procedures in infants with TCA and Down’s syndrome requires careful consideration. Two patients with Martin modification required resec-
tion of the side-to-side anastomosis because of intractable diarrhea and nighttime incontinence. The outcome of patients who underwent the Martin modification was less favorable than those who underwent a standard Duhamel procedure, which is now the procedure of choice for patients with TCA in our center. We have no experience with the right colon patch graft (Boley,15 Kimura et alIe). It is generally reported that bowel function in the patients with Hirschsprung’s disease improves with time.Y.17,1xIn our series of TCA, the average number of bowel movements decreased annually as did the incidence of fecal incontinence. There was no difference between the various procedures in the long-term followup. Night-time incontinence appears to be one of the major long-term problems after the Martin procedure. With reference to body growth, 2.5% of the patients were under the second percentile for weight at 5 years. rising to 63% at 15 years. Comparative statistics for height were 15% at 5 years and 25% at 15 years. The growth retardation seen in many of the patients with TCA is a major concern and careful long-term follow-up is essential for all patients with TCA.
REFERENCES 1. Coran AC, Bjordal total colonic and partial
R. Eeks S, et al: The surgical small intestinal aganglionosis.
management ot .I Pediatr Surg
J:531-537.1967
2. Iksda K, Goto S: Total colonic aganglionosis with or without small bowel involvement: An analysis of 137 patients. J Pediatr Surg 21:319-323. 1986 3. Ratta B.S. Kiely EM. Spitz L. et al: Improvement in the management of total colonic aganglionosis. Pediatr Sur:: Int 5:30-36. 1990 4. Levjy M. Reynolds M: Morbidity associated with total colon Hirschsprung’s disease. J Pediatr Surg 77:364-367. 1992 5. Suita S, Tayuchi T. Kamimura T. et al: Total colon a_ganglionosis with or without small bowel involvement: A changing profile. J Pediatt sur~37:1537-1541.1097 6. Martin LW: Surgical management of total colonic aganghonosia. Ann Surg 176:333-316. 1972 7. Klein MD. Philippart Al: Hirschsprun, a’$ dtuease: Three decade’\ experience at a single institution. J Pediatr Surg 28: 179 I 1794. 1993 X. Rescorla FJ. Morrison AM, Enples D, et al: Hirschsprung’r disease evaluation of mortality and long-term function in 260 cases. Arch Surs 117:931-912. 1992 0. Fortuna RS. Weber TR, Tracy TF, et al: Critical analysis of the operative treatment of Hirschsprung disease. Arch Surg 13 1:5X)-51-5. 1996 1U. Heiji HA. de Vries X. Bremer I. et al: Long-term anorectal
function after Duhamel operation for Hirschsprung’s disease. J Pediatr Surg 30:430-432. 1995 1 I N-Fekete C. Ricour C. Martelli H. et al: Total colonic Aganglionosis (with or without ileal involvement): A Review of 1-7 Cases. J Pediatr Surg 7 125 1-2.54, 1986 12. Engum SA, Petrites M. Rescorla FJ. et al: Familial Hirschsprung’s disease: 20 cases in 12 kindreds. J Pediatr Surg 78: 1286. 1190. I993 13. Martucciello G. Fdvre A. Takahashi M. et al: Immunohistochemical localization of RET protein in Hirschsprung’s disease. J Pediatr Surp 30:333-436.
1995
14. Quinn FMJ. Surana R. Puri P: The influence of trisomy 71 on outcome in children with Hirschsprung‘s disease. J Pediatr Sut-p 29:781-783.
1994
IS. Boley SJ: A new operative approach to total aganglionosis of the colon. Surg Gynecol Obstet 159:38 141. 198d 16. Kimura K, Nishigima E. Muraji T. et al: Extensive aganglionosis: Further experience with the colonic patch graft procedure and long-term results. J Pediatr Surg 2352-56. 1988 17. Holschneider AM: Komplikationen nach chirurgische therapie des morbus Hirschsprung Chirurg S3:41 S-423. 198’2 18. Nixon HH: Hirschsprung’s disease: Progress in management and diagnostics. World J Surg 9: 189-102. 1985
Discussion D. Kirzg (Cohnbus, OH): Mr Spitz, this is quite an experience. These patients are just incredible headaches for all of us. What have you learned from these children in terms of timing the repair? When are you planning to perform their pull-through operations knowing that they
are going to be incontinent and have high-volume liquid stool? What are your thoughts about performing these pull-through procedures in the Down’s syndrome patients based on this limited experience? L. @it,- (response): As far as patients with Down’s
162
syndrome are concerned, one should be very conservative in recommending pull-through procedures for total colonic agangliosis. There is a high failure rate, and perhaps these patients would be better served with a permanent stoma. This question also has arisen in short segment aganglionosis and Down’s syndrome. Our appreach would be to perform the pull-through procedure in
TSUJI
ET AL
these patients and accept that reversal to a colostomy may be necessary later for intractable incontinence. As far as timing of the pull-through operation is concerned, these patients do benefit from an initial stoma. We have no experience in performing a primary pull-through operation on the total colonic agangliosis. The best time for the pull-through would be around 6 months of age.
and Long-Term Follow-Up of Infants Total Colonic Aganglionosis By
H. Tsuji,
L. Spitz,
E.M.
Kiely,
London,
Be&ground/Purpose: Although the survival rate for the infants with total colonic aganglionosis (TCA) has improved significantly, problems with the surgical management continue and the long-term consequences for growth and continence are poorly documented. The aim of this study was to review the experience in the management of 48 patients over a 17.year period (1980 to 1996). Methods: The medical records of all patients were analyzed with particular emphasis on the number and type of surgical procedures, the attainment of anorectal continence, number of stools per day, and physical development. Resu/ts:There were 30 boys and 18 girls. Three (6%) patients died: one of sepsis, one of associated major congenital cardiac anomaly, and one of Moebius syndrome and brain stem dysfunction. Forty-one patients (85%) went on to undergo a pull-through procedure: 38 Duhamel with 13 having Martin modification and three with Soave procedure. Inappropriate surgery (47 procedures) were carried out in 19 (40%) patients before the definitive diagnosis; only four of these infants were admitted primarily to our unit. Thirteen patients had a stoma in aganglionic intestine. An ileostomy was closed in six infants before the diagnosis was established, and six had a previous “negative” laparotomy. Long-term follow-up was possible in 27 patients, of whom 19 (70%) required a total of 39 additional procedures. Ten patients
U
NTIL RELATIVELY RECENTLY, total colonic aganglionosis (TCA) was associated with a high mortality and morbidity rate.‘,? Although the mortality rate has decreased significantly in recent years, these patients tend to undergo multiple procedures and experience frequent perioperative complications.3-5 The longterm continence rate and anthropometry details of the patients are poorly documented. This review was undertaken to assess the results of management of TCA in a single institution during the recent past.
D.P. Drake,
and
With
A. Pierro
England
underwent a total of 16 anal dilatations and six underwent sphincterotomy. A permanent stoma was necessary in six patients (two with Down’s syndrome). Two patients with Martin modification required resection of the side-to-side anastomosis for intractable diarrhea. The number of the stools per day decreased yearly. Fecal incontinence was common at the 5-year follow up (82%). However, at 10 and 15 years, the rate of incontinence decreased to 57% and 33%, respectively. The proportion of patients below the second percentile for body weight were 25% at 5 years, 20% at 10 years, and 63% at 15 years of age. The equivalent statistics for body height were 15%. 0%. and 23%, respectively. Conclusions: Patients with TCA tend to undergo multiple procedures. Anorectal function improves gradually over time. There are no advantages of the Martin modification. In the long-term follow-up over half of the patients are below the second percentile for weight and one quarter are below the second percentile for height. Careful long-term follow-up is necessary for the patients with TCA. J Pediatr Surg 34:158-162. Copyright rg 1999 by W.B. Saunders Company. INDEX onosis.
WORDS:
Hirschsprung’s
MATERIALS
disease,
AND
total
colonic
agangli-
METHODS
A retrospective review of all patients with total colonic aganglionosis (TCA) treated at the Great Ormond Hospital for Sick Children (GOS) from 1980 to 1996 was undertaken. The medical records of these patients were analyzed with particular emphasis on the number and type of surgical procedures performed, the complications that occurred, the acquisition of anorectal continence. and body growth. Statistical analyses were performed using unpaired t test and Fisher’s Exact test.
RESULTS
The Patients Franz the DepartmeM of Pediatric Surgery Great Ornzond Street Hospitalfor Children, London, Englaild. Presented nt the 29th Anrnml Meeting of the American Pediatric Surgical Association, Hilton Head. South Carolina. May 10-13, 1998. Address reprint requests to Professor Lewis Spitz,, PhD, FRCS. of Child Health. 30 Department of Paedintric Srrrgeyv, Iwtitute G&ford St, Lorzdon WCIN lEH, England. Copyright 0 1999 by WB. Saunders Contpa~~ 0022-3468/99/3401-0031$03.00/O
158
Forty-eight children with TCA were treated between 1980 and 1996, of whom, 30 (63%) were boys, and 18 were (37%) girls (ratio 1.7: 1). Their mean gestational age was 39.3 weeks (range, 35 to 42 weeks) and mean birth weight 3,127 g (range, 2.510 to 3800 g). A positive family history was present in 10 cases (21%). Three (6%) patients died: one of sepsis, one of associated major Journalof
Pediatric
Surgery,
Vol34,
No 1 (January),
1999: pp 158-162
TOTAL
COLONIC
159
AGANGLIONOSIS
congenital cardiac anomaly. and one of Moebius syndrome and brain stem dysfunction. As.sociuted Anomalies Associated anomalies were identified in 17 (35%) patients. These included six gastrointestinal anomalies (malrotation, two; duodenal stenosis and gastroesophageal rrflux. three); three urogenital (renal agenesis, two; hypospadia, one); three Down’s syndrome; three cardiovascular (ventricular septal defect, atria1 septal defect, Fallot’s tetralogy): two musculoskeletal (claw hands, Moebius syndrome); and three miscellaneous anomalies. Preseruing Fe
The extent of aganglionosis extended to the ileocecal junction in 23 patients, to within 30 cm of the cecum in 18. to between 30 and 60 cm in three, between 60 and 90 cm in one. and involved more than 90 cm of ileum in three patients. Irmpproprirrte Surgety Before Diagnosis A total of 19 (40%) patients underwent a total of 47 surgical procedures before the definitive diagnosis of TCA was established (Fig 1). The most common error was fashioning a stoma in aganglionic intestine. Even when the stoma had been created in ganglionic bowel. closure took place in six patients without the diagnosis of 19 patie;nts (40%)
,I Stoma 19 I
inagan> intestine
/13\<
I
’
Resection and anastomosis 6
Laparotamy Only (“negative”)
in ganglionic intestine
’
Adhesion intestinal obstruction
Anal stretch 2
3
1 Closure of stoma without pull-through
19
Fig 1. Inappropriate surgical procedures were 19 patients (40%) and 47 procedures.
before
diagnosis.
There
TCA being appreciated. Six infants underwent a “negative” laparotomy, and, in a further six. a resection of dilated intestine and end-to-end anastomosis was performed before the definitive diagnosis was established. Fifteen of these patients had their procedures carried out before referral to GOS. Procedures Undertden Betcleen Correct Stoma and Dejnitive Pull-Through Thirty additional procedures were performed in 18 (38%) patients between the fashioning of an ileostomy in ganglionic intestine and the definitive pull-through procedure. These included relief of an adhesion intestinal obstruction in 13 patients: refashioning of the stoma because of stenosis or prolapse in 10; drainage of parastomal abscess in two; and one each colectomy, debridement of hematoma of wound; Ladd’s procedure for malrotation; and duodenoduodenostomy. Dejnitive Pull-Through Procedure Forty-one (88%) patients underwent a pull-through procedure. which comprised a standard Duhamel procedure in 25, whereas 13 had an additional Martin modification (Fig 2). Only three patients underwent a Soave endorectal pull-through. Three (6%) patients died, one from overwhelming sepsis in the neonatal period. one from an associated cardiac defect, and one from Moebius syndrome. Three patients have short bowel syndrome caused by extensive aganglionosis and have not undergone a pull-through procedure, and one is still waiting definitive surgery. Enterocolitis Of 26 patients currently undergoing follow-up, 14 (54%) have had enterocolitis on at least one occasion. Six (43%) of 14 patients who had undergone a Duhamel procedure had enterocolitis compared with five (56%) who had undergone a Martin procedure, and all three ( 100%) of those with a Soave pull-through. Arlditiorlnl Procedure After Dejrlitille Pull-Through Thirty-nine further procedures were undertaken in 19 of 27 patients (70%) followed up at GOS (Table 1). The average number of procedures was 1.0 after standard Duhamel (n = 14), 1.4 after Martin modification (n = IO), and 3.7 after Soave operation (n = 3). Sixteen anal dilatations were carried out in 10 patients, whereas six patients required a sphincterotomy (four who underwent Martin procedures and two who underwent Soave pullthrough procedure). Six patients have had to undergo permanent ileostomy because of intractable fecal incontinence or severe perineal excoriation. Two of the three infants with Down’s syndrome have needed permanent
160
TSUJI
Total colonic
Bowel movements/day
aaanalionosis
6 Neonatal
ET AL
death
0
;
All cases
+c*,
2
/I\
Duhamel 25
Awaitina surge+
’
Martin modification
2
* P
1
*’ PC005
Soave 1 5 Fig 3.
Permanent stoma 6 Fig 2.
Definitive
surgical
treatment.
Bowel Control The number of bowel actions tended to decrease with increasing follow-up from a mean of 4.6 per day at 5 years to 3.0 per day at 15 years follow-up (Fig 3). At 5 years, patients who underwent a Martin procedure had significantly less bowel motions per day compared with those who underwent standard Duhamel, but this difference was not sustained at 10 or 15 years. Incontinence was present in 82% of patients at the 5-year follow-up but improved to 57% at 10 years and 33% at the 15 years follow-up. There was no difference between the Duhamel and the Martin procedures. The extent of incontinence is shown in Table 2. Nighttime incontinence was severe enough to warrant a permanent ileostomy in one girl with short bowel syndrome and remains a problem in only one further child at 15 years. Table 1. Additional Procedures Performed After Definitive Pull-Through
Anal stretch Permanent ileostomy Resection residual spur Sphincterotomy Adhesion Resection
obstruction Martin
anastomosis Total NOTE. *Patients
Numbers with
All Cases
Duhamel
Martin
SOaW
(n = 27)
In = 14)
In = 10)
(n = 3)
16 (IO) 6*
7 (5) 3*
4 (3) 2
5 (2) 1
4 6
3 0
1 4
0 2
5 (3)
1
1
3 (1)
0 14
2 14
2 39 in parentheses Down’s
syndrome.
number
of bowel
15 movements
Age (years)
per day.
Anthropometv
stomas. Two patients who had undergone Martin procedures have undergone resection of the long side-to-side ileorectal anastomosis for intractable diarrhea and nighttime incontinence.
Procedure
Age and average
10
represent
numbers
0 11 of patients,
Failure to thrive in terms of body weight (ie, < second percentile) was evident in 25% of patients at 5 years and 10% at 10 years, but had increased to 63% at 15 years. Equivalent statistics for body height (ie. < second percentile) were 15%, O%, and 25%, respectively. DISCUSSION
Total colonic aganglionosis (TCA) constitutes between 5% and 12% of all patients with Hirschsprung’s disease.5.7-11In 17 years, we have treated 350 cases of Hirschsprung’s disease, of which, 48 cases were TCA (14%). The sex ratio, birth weight, and gestational age were similar to those reported in other series.dJ,7,i1 The familial incidence of TCA is higher than that in patients with classical Hirschsprung’s disease.5~8~11~1Z In our series, the incidence of family occurrence was 2 1% (10 patients). Recently, genetic factors, notably the RET proto-oncogene, are being closely evaluated to better understand the disease pathogenesis of Hirschsprung’s disease, particularly involving TCA. l3 Thirty-five percent of our patients had associated anomalies. Gastrointestinal, urogenital, and cardiovascular anomalies were the most common. Down’s syndrome, thought to occur chiefly in classical short-segment Hirschsprung’s disease,5.1”was present in three patients (6%) in our series. The survival rates of patients with TCA has improved recently.]-” In this series, 94% of patients with TCA survived. Meticulous pre- and postoperative management has contribute to this improvement in mortality rate. However, patients with TCA tend to undergo multiple operations attributed to delay in diagnosis and postoperative complication. Before the definitive diagnosis and enterostomy, fortyseven inappropriate procedures were carried out in 19 (40%) patients. Fashioning a stoma in aganglionic intestine was the most common erroneous procedure. Failure to consider the diagnosis and the absence of availability of frozen section histopathology findings was the main
TOTAL
COLONIC
AGANGLIONOSIS
161
reason for these errors. Most of the procedures were performed in hospitals outside of recognized neonatal surgical centers. Eighteen (38%) patients required additional procedures between the fashioning of a correct enterostomy and the definitive pull-through procedure. Adhesion intestinal obstruction and stenosis or prolapse of ileostomy were the most common complications requiring surgical procedures. Additional procedures after the definitive pull-through procedure were necessary in 19 (70%) patients. More than half of the patients have undergone an anal stretch or sphincterotomy for fecal stasis. A permanent ileostomy was necessary in six patients for intractable fecal incontinence or severe perineal excoriation including two of the three patients with Down’s syndrome. The long-term bowel function in children with Hirschsprung’s disease and Down’s syndrome is reported to be poor. I4 The decision to proceed to pull-through procedures in infants with TCA and Down’s syndrome requires careful consideration. Two patients with Martin modification required resec-
tion of the side-to-side anastomosis because of intractable diarrhea and nighttime incontinence. The outcome of patients who underwent the Martin modification was less favorable than those who underwent a standard Duhamel procedure, which is now the procedure of choice for patients with TCA in our center. We have no experience with the right colon patch graft (Boley,15 Kimura et alIe). It is generally reported that bowel function in the patients with Hirschsprung’s disease improves with time.Y.17,1xIn our series of TCA, the average number of bowel movements decreased annually as did the incidence of fecal incontinence. There was no difference between the various procedures in the long-term followup. Night-time incontinence appears to be one of the major long-term problems after the Martin procedure. With reference to body growth, 2.5% of the patients were under the second percentile for weight at 5 years. rising to 63% at 15 years. Comparative statistics for height were 15% at 5 years and 25% at 15 years. The growth retardation seen in many of the patients with TCA is a major concern and careful long-term follow-up is essential for all patients with TCA.
REFERENCES 1. Coran AC, Bjordal total colonic and partial
R. Eeks S, et al: The surgical small intestinal aganglionosis.
management ot .I Pediatr Surg
J:531-537.1967
2. Iksda K, Goto S: Total colonic aganglionosis with or without small bowel involvement: An analysis of 137 patients. J Pediatr Surg 21:319-323. 1986 3. Ratta B.S. Kiely EM. Spitz L. et al: Improvement in the management of total colonic aganglionosis. Pediatr Sur:: Int 5:30-36. 1990 4. Levjy M. Reynolds M: Morbidity associated with total colon Hirschsprung’s disease. J Pediatr Surg 77:364-367. 1992 5. Suita S, Tayuchi T. Kamimura T. et al: Total colon a_ganglionosis with or without small bowel involvement: A changing profile. J Pediatt sur~37:1537-1541.1097 6. Martin LW: Surgical management of total colonic aganghonosia. Ann Surg 176:333-316. 1972 7. Klein MD. Philippart Al: Hirschsprun, a’$ dtuease: Three decade’\ experience at a single institution. J Pediatr Surg 28: 179 I 1794. 1993 X. Rescorla FJ. Morrison AM, Enples D, et al: Hirschsprung’r disease evaluation of mortality and long-term function in 260 cases. Arch Surs 117:931-912. 1992 0. Fortuna RS. Weber TR, Tracy TF, et al: Critical analysis of the operative treatment of Hirschsprung disease. Arch Surg 13 1:5X)-51-5. 1996 1U. Heiji HA. de Vries X. Bremer I. et al: Long-term anorectal
function after Duhamel operation for Hirschsprung’s disease. J Pediatr Surg 30:430-432. 1995 1 I N-Fekete C. Ricour C. Martelli H. et al: Total colonic Aganglionosis (with or without ileal involvement): A Review of 1-7 Cases. J Pediatr Surg 7 125 1-2.54, 1986 12. Engum SA, Petrites M. Rescorla FJ. et al: Familial Hirschsprung’s disease: 20 cases in 12 kindreds. J Pediatr Surg 78: 1286. 1190. I993 13. Martucciello G. Fdvre A. Takahashi M. et al: Immunohistochemical localization of RET protein in Hirschsprung’s disease. J Pediatr Surp 30:333-436.
1995
14. Quinn FMJ. Surana R. Puri P: The influence of trisomy 71 on outcome in children with Hirschsprung‘s disease. J Pediatr Sut-p 29:781-783.
1994
IS. Boley SJ: A new operative approach to total aganglionosis of the colon. Surg Gynecol Obstet 159:38 141. 198d 16. Kimura K, Nishigima E. Muraji T. et al: Extensive aganglionosis: Further experience with the colonic patch graft procedure and long-term results. J Pediatr Surg 2352-56. 1988 17. Holschneider AM: Komplikationen nach chirurgische therapie des morbus Hirschsprung Chirurg S3:41 S-423. 198’2 18. Nixon HH: Hirschsprung’s disease: Progress in management and diagnostics. World J Surg 9: 189-102. 1985
Discussion D. Kirzg (Cohnbus, OH): Mr Spitz, this is quite an experience. These patients are just incredible headaches for all of us. What have you learned from these children in terms of timing the repair? When are you planning to perform their pull-through operations knowing that they
are going to be incontinent and have high-volume liquid stool? What are your thoughts about performing these pull-through procedures in the Down’s syndrome patients based on this limited experience? L. @it,- (response): As far as patients with Down’s
162
syndrome are concerned, one should be very conservative in recommending pull-through procedures for total colonic agangliosis. There is a high failure rate, and perhaps these patients would be better served with a permanent stoma. This question also has arisen in short segment aganglionosis and Down’s syndrome. Our appreach would be to perform the pull-through procedure in
TSUJI
ET AL
these patients and accept that reversal to a colostomy may be necessary later for intractable incontinence. As far as timing of the pull-through operation is concerned, these patients do benefit from an initial stoma. We have no experience in performing a primary pull-through operation on the total colonic agangliosis. The best time for the pull-through would be around 6 months of age.