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Association of Hirschsprung's disease and anorectal malformation
Association
of Hirschsprung’s
Disease
By Sukawat Watanatittan, Anant Suwatanaviroj,
and Anorectal
Thavatchai Limprutithum,
Malformation
and Thongkhao Rattanasuwan
Bangkok, Thailand 0 Nine patients with the association of Hirschsprung’s disease (HD) and anorectal malformation (ARM) were treated at the Children’s Hospital, Bangkok, Thailand during the lo-year period between 1977 and 1986. Four cases had the low type of ARM, four had the intermediate type, and one had the high type. Aganglionosis involved the rectum only in four casas, extended up to the rectosigmoid in three, up to the sigmoid in one, and involved the whole colon and the last 15 cm of the ileum in the other. A transitional zone was noted in the loopogram films after the initial colostomy for ARM in two cases. Barium enema was performed in six cases. Evidence of ultrashort segment aganglionosis was noted in one case. A transitional zone was noted in one case, but was not present in the remaining four cases. Delay of diagnosis of the associated HD in some cases was due to the atypical symptomatology and radiological findings. The association of these two conditions may probably be more common than generally recognized. Copyright o 1991 by W. B. Saunders Company INDEX WORDS: Hirschsprung’s disease; intestinal aganglionosis; anorectal malformation.
T
HE ASSOCIATION of Hirschsprung’s disease (HD) and anorectal malformation (ARM) is generally believed to be very rare. Most of the reported cases in the literature were single case reports.‘-’ In a survey of pediatric surgeons in the United States and Canada, Kiesewetter et al8 reported an incidence of 3.4% aganglionosis among 296 cases of ARM. In contrast to most reports, Parkkulainen et aJ9 from Finland, found aganglionosis in the terminal bowel of varying length in 15 of 25 cases of ARM who underwent histological study. The reason for the discrepancy remains unexplained. MATERIALS AND METHODS
The Children’s Hospital is located in the central part of Thailand. A good number of patients with ARM were referred from towns that are quite far from Bangkok. Some of these never returned for a follow-up after definitive procedures for ARM. Therefore, it is not possible to estimate an accurate incidence of the associated HD in the whole group of patients born with ARM. In order to estimate the incidence more accurately, only those who were born at the Rajavithi Hospital were included in the estimation. The Rajavithi Hospital and Children’s Hospital are twin hospitals. There is no pediatrician at the Rajavithi Hospital. Al1 newborn infants who are born at the Rajavithi Hospital will be transferred to the Children’s Hospital if they develop any medical problem. Details of these nine cases form the basis of this study. RESULTS
Incidence
Nine patients with the association of HD and ARM represented 2.8% of the 321 cases of HD treated at this institution during the study period. Six patients who also had their ARM previously treated at the institute represented 1.5% of the 414 cases of ARM treated in the same period. Of those who were born at the Rajavithi Hospital during the same lo-year period, 63 had HD and 88 had ARM. Two of these had the association of both diseases. This represented 3.2% of the 63 cases of HD and 2.3% of the 88 cases of ARM. During the same period, 225,436 live births were recorded at the Rajavithi Hospital. Therefore, the incidence of patients born with both diseases was 1 in about 110,000 livebirths. Type ofmiu Four cases had the low type of ARM, four had the intermediate type, and one had the high type (Table I).
A total of 321 cases of HD and 414 cases of ARM were treated for the first time during the lo-year period between 1977 and 1986 at the Children’s Hospital. Of these, nine patients had the association of both diseases. Aganglionosis was histologically proved in all of these nine cases. Six of these cases had their ARM treated also at the Children’s Hospital, but the remaining three had their ARM treated elsewhere.
Involvement of Aganglionosis
From the Department of Surgery, Children’s Hospital, Bangkok, Thailand. Date accepted: January 8,199O. Presented at the 14th Annual Meeting of the Royal College of Surgeons of 7hailand, Pattaya, Thailand, July 15-l 7,1989. Address reprint requests to Sukawat Watanatittan, MD, Department of Surgery, Children’s Hospital, Bangkok 10400, Thailand. Copyright o I991 by W B. Saunders Company 0022-3468/91/2602-0019$03.00/0
Symptomatology Related to HD
192
Aganglionosis was limited to the rectum only in four cases, extended up to the rectosigmoid in three cases, to the sigmoid in one case, and involved the whole colon and the last 15 cm of the ileum in the other (Table 1). Of those four cases with aganglionosis limited to the rectum, one was believed to have an ultrashort variety.
One patient, case 7 (Table 2), never had symptoms related to HD, because when he underwent sacroabdominoperineal anorectoplasty (Kiesewetter proceJournalofPediatricSurgery,
Vol26, No 2 (February), 1991: pp 192-195
HIRSCHSPRUNG’S
AND ANORECTAL
193
MALFORMATION
Table 1. Association of ARM and Aganglionosis Upper Limitof Aganglionosis
Type of ARM
Case No. 1
Intermediate (anorectal stenosis)
Rectum
Low’
Sigmoid
Low (anovulvar fistula)
Ileum
Low’
Rectum (ultrashort)
intermediate (without fistula)
Rectum
Intermediate (without fistula)
Rectosigmoid
High (without fistula)
Rectosignoid
Intermediate (without fistula)
Rectosigmoid
Low*
Rectum
*ARM treated elsewhere.
dure”‘) for ARM, the colon above the transitional zone was used for the pull-through. Constipation and abdominal distension were chief complaints related to HD in most cases. However, in case 9, the chief complaint was not constipation but soiling. According to the parents, after an anoplasty, which was performed elsewhere for a low type of ARM in the newborn period, he had problems with what his parents described as “stool incontinence.” Because of a failure of treatment at a local hospital in his home town, he was referred to the Children’s Hospital for further treatment of stool incontinence. However, a rectal examination showed a fecal impaction. A contrast radiological study was not typical of HD either, but the correct diagnosis was obtained from a rectal biopsy. Case 3, who was born with an anovulvar fistula, had persistent abdominal distension after an anoplasty. A total coionic aganglionosis was diagnosed at laparotomy. Radiological Study
Case 3 did not have a contrast study. Abdominal films showed pictures of small bowel obstruction. She underwent a laparotomy without a contrast study. All of the remaining eight patients had contrast studies. Two patients, cases 7 and 8 (Table 2), had a transitional zone in the loopogram film after their Table 2. Symptomatology
colostomy for ARM. This finding was recognized and the diagnosis of HD was suggested by radiologists initially after the study in the newborn period. However, it was viewed with skepticism by the surgeon in case 7. It was not until the development of constipation after a posterior sagittal anorectoplasty for ARM that the diagnosis of HD was seriously considered by the surgeon. However, when this similar finding was again mentioned in the radiological report of case 8, the radiologic diagnosis of associated HD was wellappreciated by the surgeons. Case 5, which had an anoplasty done elsewhere for her ARM of the low type, had radiological evidence suggestive of ultrashort segment HD on barium enema films. This was subsequently proven by a rectal biopsy and clinical course. In case 9, a transitional zone was not observed in the initial barium enema films, but its presence was more apparent in the postevacuation film. In the remaining four cases, a transitional zone was not present in the barium enema films. However, poor evacuation of barium after the study was noted in all these cases. Delay of Diagnosis of HD
The diagnosis of HD was made radiologically before the completion of the treatment of ARM in two cases (cases 6 and 7). In the remaining seven and Contrast Radiological Study
contrast Duration of Case No.
Symptoms
of
Radiological
HD
7yr4mo
Symptoms
of HD
Study
Constipation + distension
No transitional zone
7 vr 20 d
Constipation + distension Postoperative distension
No transitional zone -
5mo
Constipation + distension
Ultrashort segment
4mo
Constipation + distension
No transitional zone
16d -
Constipation + distension -
Transitional zone*
11 mo
Constipation + distension
No transitional zone
Soiling
Transitional zone
2 vr *Shown in loopogram after initial colostomy for ARM.
Transitional zone*
194
WATANATIT-TAN
Table 3. Definitive Treatment
of Hirschsprung’s Disease and Result
Operation
Case No.
Result
1
Swenson’s pull-through
Good
2
Swenson’s pull-through -
Good -
3 4
Posterior myectomy (two times)
5
Soave’s pull-through
Good
6
Duhamel’s pull-through -
Good -
6
Duhamel’s pull-through
Fair to good
9
Soave’s pull-through
7
Fair to good
Good
cases, the time interval between the completion of the treatment of ARM and the diagnosis of HD varied from 20 days to 7 years 4 months (Table 2). The delay of the diagnosis in case 1 was due both to the parents’ failure to bring the patient for a follow-up and the failure of radiological investigations to show a typical transitional zone in the barium enema study. The delays in cases 2 and 9 were due to the failure of referring physicians to recognize the possibility of HD. Constipation in these two cases had been believed to be due to the failure of surgical procedures of ARM and had been treated with laxatives and enemas for a protracted period of time before the patients were referred to the Children’s Hospital. The delay in case 8 was also due to the failure of radiological investigation to show a transitional zone in a barium enema study. Treatment and Result
One patient, case 3, died of pneumonia and sepsis 10 days after an enterostomy for a total colonic aganglionosis (Table 3). She had multiple anomalies, including a microcephaly. Case 4, with ultrashort segment HD, had a posterior myectomy twice before a good result was obtained. Case 7 needed no further treatment after a sacroabdominoperineal anorectoplasty for his ARM. The remaining six cases had abdominoperineal pull-through procedures of various types. Of these, four had good results, but two had some problems after the pull-through procedures (Table 3). Case 8 had problems with toilet training in the early period of follow-up. Case 9 developed a rectovaginal fistula, which required a surgical repair. Both these two cases eventually had satisfactory results.
DISCUSSION
Of the children born at the Rajavithi Hospital, the incidence was found to be 1 in 2,500 live births for ARM,” and 1 in 3,500 live births for HD.” If both diseases occur as independent events, the chance for both to occur together in the same person should be 1 in 8,750,OOOlive births. However, the incidence was found to be 1 in 110,000 live births in this study. This was about 80 times the expected incidence. Therefore, the association of both diseases in the same individual should be more than just an independent coincidence. It is noteworthy that even though the overall incidence of associated aganglionosis was found to be 3.4% of 296 cases of ARM in Kiesewetter’s report,8 the incidence from each institute in the survey varied considerably. It was as low as 0% of the 131 cases from seven institutes, but as high as 10% of the 40 cases from Dorman’s institute. In the present study, the incidence was found to be 2.3% of the 88 patients who were born with ARM at the Rajavithi Hospital. However, it is our belief that the true incidence should probably be higher than this estimate. A cause of this underestimation was certainly a poor follow-up rate among patients who had ARM treated at this hospital. In addition, several other factors may play some roles in the difficulty in diagnosis and underestimation of the incidence. Some patients with associated aganglionosis may not exhibit a typical symptomatology of HD after the surgical treatment of ARM. Stool soiling or incontinence is a common complaint after the treatment of the intermediate or high type of ARM. If the soiling or incontinence is severe, the symptom of constipation may not be so conspicuous to the parents. Case 9 in this report is an example. The symptom of constipation may be taken for granted as the poor result of surgical treatment of ARM. It is true that the constipation after surgery for ARM is most commonly due to a stricture at the mucocutaneous anastomosis. Patients with associated Table 4. Other Associated Anomalies (Five Cases) AssociatedAnomalies Vesicoureteral reflux Ectopic ureter Hypospadias Undescended testis
Other Associated Anomalies
Of these nine cases, five had other associated anomalies (Table 4). Like patients with ARM in general, the genitourinary tract was the system that was involved most often.
ET AL
Down’s syndrome Microcephaly Congenital heart disease Syndactyly Preauricular skin tag Odd-looking face
No. of Patients 3
HIRSCHSPRUNG’S
AND ANORECTAL
195
MALFORMATION
HD continue to have constipation despite adequate anorectal canal. Several patients in this report had delayed diagnosis of HD because surgeons blamed surgical treatments of ARM for the constipation. Some patients with associated HD may not be recognized altogether because of such attitude. Barium enema study may not show a typical picture of the transitional zone, especially in cases of ultrashort segment HD and total colonic aganglionosis. In some patients with short segment aganglionosis, the aganglionic terminal bowel may be totally excised during a pull-through procedure for ARM. Unless the excised specimen is carefully examined for ganglion cells, the associated aganglionosis may not be recognized. In seven of the 10 cases with associated aganglionosis in Kiesewetter’s report,’ the aganglionosis was confined within the resected distal bowel that was removed during the surgery for ARM. Similar errors may occur during the sacroabdominoperineal pull-through procedure (Kiesewetter’“). Case 7 in this report is one such example. Unless the radiologist recognized the transitional zone in the loopogram films and the surgeon performed a biopsy of the distal bowel during a sacroabdominoperineal pull-through procedure, the diagnosis of the associated aganglionosis would not be made in this case. Some or all of these diagnostic problems may result in the underestimation of the incidence of associated aganglionosis after the treatment of ARM. It may also be responsible for the apparent disparity of the estimated incidences in the literature. The length of the aganglionic segment may also be responsible for the disparity. In the report by Parkkulainen et al,’ the aganglionic segment was as short as 2 cm in some
cases. We agree with Stephens’ opinion that the absence of ganglion cells in the last 2 cm of the terminal bowel should not be a valid criterion for the diagnosis of associated HD.” In order to recognize patients with associated HD more accurately, attention must be paid to those patients who develop constipation or fecal impaction after appropriate treatment of ARM. If the constipation persists despite of adequate anal canal, a barium enema study should be done. A rectal biopsy may be necessary even if the barium enema study does not show a typical transitional zone, especially if there is poor evacuation of barium after the study. A loopogram study should be routinely performed after an initial colostomy for ARM of intermediate or high type. This is not only to identify the level of the rectal pouch, but also to look for evidence of associated HD. If a transitional zone is demonstrated in the study, it would help in selecting an appropriate pull-through procedure and the appropriate level of bowel for a pull-through when a definitive procedure is done for ARM. Kiesewetter et al” recommended that a frozen section study of the terminal bowel should be done routinely at the time of pull-through procedure for ARM. It is not our practice to do so at this institution at present. Nevertheless, we would perform an intraoperative frozen section study for ganglion cells if the preoperative contrast study shows a transional zone. Further information regarding the more accurate incidence and the clinical benefit of a routine frozen section study, as recommended by Kiesewetter, are needed.
REFERENCES 1. Bacon HE, Sherman LF: Surgical treatment of congenital malformations of the anus and rectum. Report of one hundred eleven cases. Arch Surg 64:331-344. 1952 2. Ragins H, Van Prohaska J: Megarectum. Ann Surg 145:249253.1957 3. Riker WL: Diagnosis and treatment of aganglionosis of the myenteric plexus. Arch Surg 75:362-376, 1957 4. Brayton D, Norris WJ: Further experiences with the treatment of imperforate anus. Surg Gynecol Obstet 107:719-726, 1958 5. Stevenson JK, Herron PW: Hirschsprung’s disease: A rare cause of constipation in patients following surgical correction of imperforate anus. Report of two cases. Am J Surg 33:555-558,1967 6. Santulli TV, Schullinger JW, Kiesewetter WB, et al: Imperforate anus: A survey from the members of the Surgical Section of the American Academy of Pediatrics. J Pediatr Surg 6:484-487, 1971 7. Mahboubi S, Templeton JM Jr: Association of Hirschsprung’s disease and imperforate anus in a patient with “cat-eye” syndrome. Pediatr Radio1 14:441-442, 1984
8. Kiesewetter WB, Sukarochana K, Sieber WK: The frequency of aganglionosis associated with imperforate anus. Surgery 58:877880,1965 9. Parkkulainen KV, Hjelt L, Sulamaa M: Anal atresia combined with aganglionic megacolon. Acta Chir Stand 118252-256, 1960 10. Kiesewetter WB: Imperforate anus. II. The rational and technic of sacroabdominoperineal operation. J Pediatr Surg 2:106110.1967 11. Watanatittan S, Temiyasathit S, Suwatanaviroj A, et al: Anorectal malformations: Diagnostic experience. Bull Depart Med Serv 13:9-19,198s 12. Watanatittan S, Suwatanaviroj A, Limprutithum T, et al: Hirschsprung’s disease. Diagnostic experience. Bull Depart Med Serv (in press) 13. Stephens FD, Smith ED: Ano-rectal Malformations in Children. Chicago, IL, Year Book, 1971
of Hirschsprung’s
Disease
By Sukawat Watanatittan, Anant Suwatanaviroj,
and Anorectal
Thavatchai Limprutithum,
Malformation
and Thongkhao Rattanasuwan
Bangkok, Thailand 0 Nine patients with the association of Hirschsprung’s disease (HD) and anorectal malformation (ARM) were treated at the Children’s Hospital, Bangkok, Thailand during the lo-year period between 1977 and 1986. Four cases had the low type of ARM, four had the intermediate type, and one had the high type. Aganglionosis involved the rectum only in four casas, extended up to the rectosigmoid in three, up to the sigmoid in one, and involved the whole colon and the last 15 cm of the ileum in the other. A transitional zone was noted in the loopogram films after the initial colostomy for ARM in two cases. Barium enema was performed in six cases. Evidence of ultrashort segment aganglionosis was noted in one case. A transitional zone was noted in one case, but was not present in the remaining four cases. Delay of diagnosis of the associated HD in some cases was due to the atypical symptomatology and radiological findings. The association of these two conditions may probably be more common than generally recognized. Copyright o 1991 by W. B. Saunders Company INDEX WORDS: Hirschsprung’s disease; intestinal aganglionosis; anorectal malformation.
T
HE ASSOCIATION of Hirschsprung’s disease (HD) and anorectal malformation (ARM) is generally believed to be very rare. Most of the reported cases in the literature were single case reports.‘-’ In a survey of pediatric surgeons in the United States and Canada, Kiesewetter et al8 reported an incidence of 3.4% aganglionosis among 296 cases of ARM. In contrast to most reports, Parkkulainen et aJ9 from Finland, found aganglionosis in the terminal bowel of varying length in 15 of 25 cases of ARM who underwent histological study. The reason for the discrepancy remains unexplained. MATERIALS AND METHODS
The Children’s Hospital is located in the central part of Thailand. A good number of patients with ARM were referred from towns that are quite far from Bangkok. Some of these never returned for a follow-up after definitive procedures for ARM. Therefore, it is not possible to estimate an accurate incidence of the associated HD in the whole group of patients born with ARM. In order to estimate the incidence more accurately, only those who were born at the Rajavithi Hospital were included in the estimation. The Rajavithi Hospital and Children’s Hospital are twin hospitals. There is no pediatrician at the Rajavithi Hospital. Al1 newborn infants who are born at the Rajavithi Hospital will be transferred to the Children’s Hospital if they develop any medical problem. Details of these nine cases form the basis of this study. RESULTS
Incidence
Nine patients with the association of HD and ARM represented 2.8% of the 321 cases of HD treated at this institution during the study period. Six patients who also had their ARM previously treated at the institute represented 1.5% of the 414 cases of ARM treated in the same period. Of those who were born at the Rajavithi Hospital during the same lo-year period, 63 had HD and 88 had ARM. Two of these had the association of both diseases. This represented 3.2% of the 63 cases of HD and 2.3% of the 88 cases of ARM. During the same period, 225,436 live births were recorded at the Rajavithi Hospital. Therefore, the incidence of patients born with both diseases was 1 in about 110,000 livebirths. Type ofmiu Four cases had the low type of ARM, four had the intermediate type, and one had the high type (Table I).
A total of 321 cases of HD and 414 cases of ARM were treated for the first time during the lo-year period between 1977 and 1986 at the Children’s Hospital. Of these, nine patients had the association of both diseases. Aganglionosis was histologically proved in all of these nine cases. Six of these cases had their ARM treated also at the Children’s Hospital, but the remaining three had their ARM treated elsewhere.
Involvement of Aganglionosis
From the Department of Surgery, Children’s Hospital, Bangkok, Thailand. Date accepted: January 8,199O. Presented at the 14th Annual Meeting of the Royal College of Surgeons of 7hailand, Pattaya, Thailand, July 15-l 7,1989. Address reprint requests to Sukawat Watanatittan, MD, Department of Surgery, Children’s Hospital, Bangkok 10400, Thailand. Copyright o I991 by W B. Saunders Company 0022-3468/91/2602-0019$03.00/0
Symptomatology Related to HD
192
Aganglionosis was limited to the rectum only in four cases, extended up to the rectosigmoid in three cases, to the sigmoid in one case, and involved the whole colon and the last 15 cm of the ileum in the other (Table 1). Of those four cases with aganglionosis limited to the rectum, one was believed to have an ultrashort variety.
One patient, case 7 (Table 2), never had symptoms related to HD, because when he underwent sacroabdominoperineal anorectoplasty (Kiesewetter proceJournalofPediatricSurgery,
Vol26, No 2 (February), 1991: pp 192-195
HIRSCHSPRUNG’S
AND ANORECTAL
193
MALFORMATION
Table 1. Association of ARM and Aganglionosis Upper Limitof Aganglionosis
Type of ARM
Case No. 1
Intermediate (anorectal stenosis)
Rectum
Low’
Sigmoid
Low (anovulvar fistula)
Ileum
Low’
Rectum (ultrashort)
intermediate (without fistula)
Rectum
Intermediate (without fistula)
Rectosigmoid
High (without fistula)
Rectosignoid
Intermediate (without fistula)
Rectosigmoid
Low*
Rectum
*ARM treated elsewhere.
dure”‘) for ARM, the colon above the transitional zone was used for the pull-through. Constipation and abdominal distension were chief complaints related to HD in most cases. However, in case 9, the chief complaint was not constipation but soiling. According to the parents, after an anoplasty, which was performed elsewhere for a low type of ARM in the newborn period, he had problems with what his parents described as “stool incontinence.” Because of a failure of treatment at a local hospital in his home town, he was referred to the Children’s Hospital for further treatment of stool incontinence. However, a rectal examination showed a fecal impaction. A contrast radiological study was not typical of HD either, but the correct diagnosis was obtained from a rectal biopsy. Case 3, who was born with an anovulvar fistula, had persistent abdominal distension after an anoplasty. A total coionic aganglionosis was diagnosed at laparotomy. Radiological Study
Case 3 did not have a contrast study. Abdominal films showed pictures of small bowel obstruction. She underwent a laparotomy without a contrast study. All of the remaining eight patients had contrast studies. Two patients, cases 7 and 8 (Table 2), had a transitional zone in the loopogram film after their Table 2. Symptomatology
colostomy for ARM. This finding was recognized and the diagnosis of HD was suggested by radiologists initially after the study in the newborn period. However, it was viewed with skepticism by the surgeon in case 7. It was not until the development of constipation after a posterior sagittal anorectoplasty for ARM that the diagnosis of HD was seriously considered by the surgeon. However, when this similar finding was again mentioned in the radiological report of case 8, the radiologic diagnosis of associated HD was wellappreciated by the surgeons. Case 5, which had an anoplasty done elsewhere for her ARM of the low type, had radiological evidence suggestive of ultrashort segment HD on barium enema films. This was subsequently proven by a rectal biopsy and clinical course. In case 9, a transitional zone was not observed in the initial barium enema films, but its presence was more apparent in the postevacuation film. In the remaining four cases, a transitional zone was not present in the barium enema films. However, poor evacuation of barium after the study was noted in all these cases. Delay of Diagnosis of HD
The diagnosis of HD was made radiologically before the completion of the treatment of ARM in two cases (cases 6 and 7). In the remaining seven and Contrast Radiological Study
contrast Duration of Case No.
Symptoms
of
Radiological
HD
7yr4mo
Symptoms
of HD
Study
Constipation + distension
No transitional zone
7 vr 20 d
Constipation + distension Postoperative distension
No transitional zone -
5mo
Constipation + distension
Ultrashort segment
4mo
Constipation + distension
No transitional zone
16d -
Constipation + distension -
Transitional zone*
11 mo
Constipation + distension
No transitional zone
Soiling
Transitional zone
2 vr *Shown in loopogram after initial colostomy for ARM.
Transitional zone*
194
WATANATIT-TAN
Table 3. Definitive Treatment
of Hirschsprung’s Disease and Result
Operation
Case No.
Result
1
Swenson’s pull-through
Good
2
Swenson’s pull-through -
Good -
3 4
Posterior myectomy (two times)
5
Soave’s pull-through
Good
6
Duhamel’s pull-through -
Good -
6
Duhamel’s pull-through
Fair to good
9
Soave’s pull-through
7
Fair to good
Good
cases, the time interval between the completion of the treatment of ARM and the diagnosis of HD varied from 20 days to 7 years 4 months (Table 2). The delay of the diagnosis in case 1 was due both to the parents’ failure to bring the patient for a follow-up and the failure of radiological investigations to show a typical transitional zone in the barium enema study. The delays in cases 2 and 9 were due to the failure of referring physicians to recognize the possibility of HD. Constipation in these two cases had been believed to be due to the failure of surgical procedures of ARM and had been treated with laxatives and enemas for a protracted period of time before the patients were referred to the Children’s Hospital. The delay in case 8 was also due to the failure of radiological investigation to show a transitional zone in a barium enema study. Treatment and Result
One patient, case 3, died of pneumonia and sepsis 10 days after an enterostomy for a total colonic aganglionosis (Table 3). She had multiple anomalies, including a microcephaly. Case 4, with ultrashort segment HD, had a posterior myectomy twice before a good result was obtained. Case 7 needed no further treatment after a sacroabdominoperineal anorectoplasty for his ARM. The remaining six cases had abdominoperineal pull-through procedures of various types. Of these, four had good results, but two had some problems after the pull-through procedures (Table 3). Case 8 had problems with toilet training in the early period of follow-up. Case 9 developed a rectovaginal fistula, which required a surgical repair. Both these two cases eventually had satisfactory results.
DISCUSSION
Of the children born at the Rajavithi Hospital, the incidence was found to be 1 in 2,500 live births for ARM,” and 1 in 3,500 live births for HD.” If both diseases occur as independent events, the chance for both to occur together in the same person should be 1 in 8,750,OOOlive births. However, the incidence was found to be 1 in 110,000 live births in this study. This was about 80 times the expected incidence. Therefore, the association of both diseases in the same individual should be more than just an independent coincidence. It is noteworthy that even though the overall incidence of associated aganglionosis was found to be 3.4% of 296 cases of ARM in Kiesewetter’s report,8 the incidence from each institute in the survey varied considerably. It was as low as 0% of the 131 cases from seven institutes, but as high as 10% of the 40 cases from Dorman’s institute. In the present study, the incidence was found to be 2.3% of the 88 patients who were born with ARM at the Rajavithi Hospital. However, it is our belief that the true incidence should probably be higher than this estimate. A cause of this underestimation was certainly a poor follow-up rate among patients who had ARM treated at this hospital. In addition, several other factors may play some roles in the difficulty in diagnosis and underestimation of the incidence. Some patients with associated aganglionosis may not exhibit a typical symptomatology of HD after the surgical treatment of ARM. Stool soiling or incontinence is a common complaint after the treatment of the intermediate or high type of ARM. If the soiling or incontinence is severe, the symptom of constipation may not be so conspicuous to the parents. Case 9 in this report is an example. The symptom of constipation may be taken for granted as the poor result of surgical treatment of ARM. It is true that the constipation after surgery for ARM is most commonly due to a stricture at the mucocutaneous anastomosis. Patients with associated Table 4. Other Associated Anomalies (Five Cases) AssociatedAnomalies Vesicoureteral reflux Ectopic ureter Hypospadias Undescended testis
Other Associated Anomalies
Of these nine cases, five had other associated anomalies (Table 4). Like patients with ARM in general, the genitourinary tract was the system that was involved most often.
ET AL
Down’s syndrome Microcephaly Congenital heart disease Syndactyly Preauricular skin tag Odd-looking face
No. of Patients 3
HIRSCHSPRUNG’S
AND ANORECTAL
195
MALFORMATION
HD continue to have constipation despite adequate anorectal canal. Several patients in this report had delayed diagnosis of HD because surgeons blamed surgical treatments of ARM for the constipation. Some patients with associated HD may not be recognized altogether because of such attitude. Barium enema study may not show a typical picture of the transitional zone, especially in cases of ultrashort segment HD and total colonic aganglionosis. In some patients with short segment aganglionosis, the aganglionic terminal bowel may be totally excised during a pull-through procedure for ARM. Unless the excised specimen is carefully examined for ganglion cells, the associated aganglionosis may not be recognized. In seven of the 10 cases with associated aganglionosis in Kiesewetter’s report,’ the aganglionosis was confined within the resected distal bowel that was removed during the surgery for ARM. Similar errors may occur during the sacroabdominoperineal pull-through procedure (Kiesewetter’“). Case 7 in this report is one such example. Unless the radiologist recognized the transitional zone in the loopogram films and the surgeon performed a biopsy of the distal bowel during a sacroabdominoperineal pull-through procedure, the diagnosis of the associated aganglionosis would not be made in this case. Some or all of these diagnostic problems may result in the underestimation of the incidence of associated aganglionosis after the treatment of ARM. It may also be responsible for the apparent disparity of the estimated incidences in the literature. The length of the aganglionic segment may also be responsible for the disparity. In the report by Parkkulainen et al,’ the aganglionic segment was as short as 2 cm in some
cases. We agree with Stephens’ opinion that the absence of ganglion cells in the last 2 cm of the terminal bowel should not be a valid criterion for the diagnosis of associated HD.” In order to recognize patients with associated HD more accurately, attention must be paid to those patients who develop constipation or fecal impaction after appropriate treatment of ARM. If the constipation persists despite of adequate anal canal, a barium enema study should be done. A rectal biopsy may be necessary even if the barium enema study does not show a typical transitional zone, especially if there is poor evacuation of barium after the study. A loopogram study should be routinely performed after an initial colostomy for ARM of intermediate or high type. This is not only to identify the level of the rectal pouch, but also to look for evidence of associated HD. If a transitional zone is demonstrated in the study, it would help in selecting an appropriate pull-through procedure and the appropriate level of bowel for a pull-through when a definitive procedure is done for ARM. Kiesewetter et al” recommended that a frozen section study of the terminal bowel should be done routinely at the time of pull-through procedure for ARM. It is not our practice to do so at this institution at present. Nevertheless, we would perform an intraoperative frozen section study for ganglion cells if the preoperative contrast study shows a transional zone. Further information regarding the more accurate incidence and the clinical benefit of a routine frozen section study, as recommended by Kiesewetter, are needed.
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