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Punch biopsy of the rectum for the diagnosis of Hirschsprung's disease
Punch Biopsy of the Rectum for the Diagnosis of Hirschsprung’s Disease By Barry Shandling and Alex. W. Auldist
H
IRSCHSPRUNG’S DISEASE although still not completely understood, is characterized by the presence of a segment of aganglionic bowel extending proximally from the anus for a variable distance.’ Despite careful assessment of clinical features, radiographs, and other investigations,2*3 the only unequivocal criterion for diagnosis of this disease is the histologic demonstration of the complete absence of ganglion cells in the distal bowel. Hirschsprung’s disease may present in the neonatal period as intestinal obstruction or, in older children, as constipation. In the neonate early diagnosis and appropriate treatment are necessary to prevent morbidity and mortality from complications such as enterocolitis or perforation. In older children a simple, safe, and reliable method is desirable to distinguish those with Hirschsprung’s disease from a much larger number with functional constipation. The original biopsy operation as described by Swenson (195~)~ was designed to provide the pathologist with a large sample of Auerbach’s plexus. This method of biopsy is not easy to do and may be complicated by bleeding, infection, or scarring. Orientation of muscle so obtained is often difficult, and despite the formal nature of the operation an adequate specimen is not always acquired. The complications of this technique have prompted the use of other methods of biopsy. Hiatt (19%)’ described a rectal wall biopsy via a posterior proctotomy, an operation in which the rectum was approached from behind and the mucous membrane Ieft intact. However, we found this method to be no less formidable than Swenson’s method. In our hands posterior proctotomy yielded striated muscle with distressing frequency on the few occasions it was used. Retrorectal fibrosis following such a biopsy could interfere with the subsequent definitive operation. In 1960 Gherardi* showed the level of aganglionosis was the same for the submucosal and the intermyenteric plexuses and BodianQ first advocated the use of a large superficial biopsy of mucosa and submucosa to diagnose Hirschsprung’s disease. One of the authorslo in 1961 proposed punch biopsy of a rectal valve to obtain a small sample of both plexuses, and subsequently Dobbins and Bill” From fhe Hospital for Sick Children, Toronto, Onf., Cunadu, and the Uniuersify of Toronto, Toronto, Ont., Canada. Presented uf the Third Annuul Meeting of the American Pediatric Surgical Association, Hot Springs, Va., April 13-15, 1972. Barry Shandling, MB., Ch.B., F.R.C.S. (Eng.), F.R.C.S. (C.): Stuff Surgeon, Hospital for Sick Children, Toronto, Onf., Canada, and Associate, Depurfmenf of Surgery, University of Toronto, Toronto, Onf., Canada. Alex. W. Auldist, M.B., B.S., F.R.A.C.S.: Chief Resident in Generut Surgery, Hospital for Sick Children, Toronto, Ontario, Canada. 545
Journal of Pediatric Surgery, Vol. 7, No. 5 (October-November),
1972
DIAGNOSIS OF HIRSCHSPRUNG’S
DISEASE
547
described suction biopsy of rectal mucosa to obtain a small submucosal specimen. Campbell and Noblett12,r3 reported experience with rectal suction biopsy and concluded that the method could be used to diagnose Hirschsprung’s disease accurately. This paper describes the technique and results of punch biopsy of the rectum for the diagnosis of Hirschsprung’s disease as used at the Hospital for Sick Children, Toronto, in 1961-1970. MATERIALS
AND METHODS
The technique used exclusively since 1961 is punch biopsy of either of a valve of Houston or of the rectal wall. No anesthesia is used in older cooperative children, although children between 1 and 6 yr of age do require anesthesia. The patient is placed in the lateral position. A sigmoidoscope is introduced into the rectum and a biopsy taken of the lowest valve of Houston using a laryngeal biopsy forceps (Fig. 1). Initially, an attempt was always made to include the muscle layer in the biopsy, but we have found that a specimen of submucosa is sufficient for diagnostic purposes. In neonates anesthesia is unnecessary. The patient is placed in the dorsal position with the hips flexed, and a nasal speculum is inserted into the anus. A biopsy is taken with the laryngeal biopsy forceps from the posterior wall of the rectum l-2 cm above the pectinate line. Bleeding is usually minimal, and a small gauze sponge is left in the rectum to be passed with the patient’s next stool. Specimens are fixed in formalm, and sections are stained with hematoxylin and eosin. The pathologist examines Z-SO sections and the result is available within 24 hr. An adequate amount of submucosa must be present or the specimen is considered inadequate and a repeat requested. In the 10 years 1961-70, rectal punch biopsies were taken on 337 occasions from 360 patients. Excluded from this series are rectal biopsies for ulcerative colitis or granulomatous colitis. Included are 34 biopsies for reasons other than suspected Hiischsprtmg’s disease, but all biopsies were examined for ganglion cells. The ages of the patients at the time of rectal biopsy are shown in Fig. 2. Biopsies were done on patients ln the first year of life on 131 occasions, and of these 104 were in patients less than 8 wk of age. Figure 3 shows the incidence of the procedure throughout the period of study.
COMPLICATIONS
Bleeding was reported as a complication if the patient required a transfusion, if repacking or the use of cautery was necessary, or if the hemoglobin
546
SHANDLING AND AULDIST
2.12
mos
1.5
!HO 10.15
Yrs
Fig. 2. Age at rectal punch biopsy; 387 biopsies.
dropped as much as 2 g/100 ml. There were 13 such patients, including seven requiring transfusion and five repacking or cautery. One had a 2 g/loo ml fall in hemoglobin but required neither transfusjon nor repacking. Transient respiratory infections occurred after operation in six patients who had had general anesthesia. No instance of perforation, infection, or abscess formation was encountered in this series (Table 1). There were five deaths within 48 hr of biopsy. These were in neonates in four cases. The other death was of a 5-mo-old child who had failed to gain weight since birth and in whom a diagnosis was not made even after death. In two cases death was due to preexisting severe respiratory disease. In the other three babies hemorrhage requiring transfusion occurred after rectal biopsy and must be considered a contributing factor even though each had severe associated disease, including preexisting peritonitis, congenital heart disease, pneumonia, and idiopathic hypoglycemia. RESULTS
No ganglion cells were present in the rectal punch biopsies on 128 occasions. In 100 of these the absence of ganglion cells subsequently was confumed at laparotomy, at autopsy, or at definitive operation for Hirschsprung’s
-66
61
1
T
J
70
Fig. 3. Incidence of rectal punch biopsy; 387 biopsies.
549
DIAGNOSIS OF HIRSCHSPRUNG’S DISEASE
disease. The follow-up is incomplete for II additional biopsies either because the definitive operation has not yet been performed or a Soave-type endorectal pull-through produced only a mucosal specimen. A total of 111 biopsies was done on 98 patients in whom the present diagnosis is Hirschsprung’s disease. Seventeen biopsies were reported as not revealing ganglion cells, although the patient did not have Hirschsprung’s disease. We have called this “false absence of ganglion cells.” On five occasions the pathologist considered that the specimen contained insufficient submucosa and requested a repeat biopsy. In nine patients the biopsy was repeated because of doubt about the clinical diagnosis and repeat biopsy showed the presence of ganglion cells. On three occasions there was said to be an adequate specimen but the result was ignored because of the clinical picture. The slides of these last 12 patients initially reported as aganglionic have now been reviewed. Seven of the original biopsies show definite ganglion cells; the remaining five failed to include the submucosa and so are inadequate. Thus, ganglion cells were shown to be present in every adequate biopsy in every patient who did not have Hirschsprung’s disease. Ganglion cells were reported to be present in the rectal biopsy on 259 occasions. It is noteworthy that in some patients a strong clinical and radiological diagnosis of Hirschsprung’s had been made. On no occasion when the pathologist reported the presence of ganglion cells were these subsequently shown to be absent. DISCUSSION
Figure 4 shows the radiographic findings in an infant admitted at the age of 2 days with vomiting, gross abdominal distension, and failure to pass meconium. Although the clinical and radiographic findings were typical of Hirschsprrmg’s disease and a colostomy seemed urgently needed, we did a rectal biopsy. Much to our surprise, it showed ganglion cells to be present. After a colonic irrigation, the infant’s distension disappeared and she was 100% normal upon discharge 7 days later. She is now thriving at the age of 6 mo. Except for the rectal biopsy at the age of 2 days, she has never had any operation. Rectal biopsy should be simple, safe, and diagnostically reliable. Punch biopsy is a simple method with little risk. The chief complication, hemorrhage, is readily recognized and controlled. We recommend preliminary coagulation studies on severely ill patients, especially in infants with chronic diarrhea. Scarring and infection do not occur with this method. If the specimen does not contain a sufficient amount of submucosa, the
Table 1. Complications in 367 Rectal Biopsies Scarrlng Perforation or peritonitis Respiratory Infection Bleeding
none none 6 13
SHANDLING AND AULDIST
Fig. 4. X-ray showing classic HiI rsNchsprung’s ) disease.
may request a repeat biopsy. This occurred five times in this series. The amount of submucosa necessary is an important factor. Campbell and Noblettr2 attempted to quantitate this and stated that a 2-mm area of submucosa is adequate if the biopsy is taken above the zone of hypoganglionosis, which extends in the submucosa for 17 mm above the pectinate line. We have no quantitative data on this matter, but believe that the experience and capability of the pathologist are even more important. In this series several patients could have had inappropriate treatment because of reports of absent ganglion cells. However, review of the slides has shown that there were no instances of “false absence of ganglion cells” if the specimens contained adequate submucosa and were examined by an experienced pathologist. If the biopsy is inadequate, it should be repeated. We are now fixing all rectal biopsy specimens in Zenker’s solution to give better definition of the cells. We regard rectal biopsy as absolutely essential in establishing the diagnosis of Hirschsprung’s disease. It is almost always possible to wait 24 hr while the is the initial treatment chosen. Certainly, resection of the aganglionic bowel in Hirschsprung’s disease should not be undertaken without having unequivocal biopsy specimen is processed before doing a defunctioning colostomy, if that histologic proof of the diagnosis. pathologist
SUMMARY
Ten years’ experience with punch biopsy of the rectum for the diagnosis of
551
DIAGNOSIS OF HIRSCHSPRUNG’S DISEASE
Hirschsprung’s disease is reported. There were 387 biopsies on 360 patients, of whom 98 were eventually diagnosed as having Hirschsprung’s disease. Of these, 181 biopsies were done on patients less than I yr of age and 104 of less than 8 wk. The only significant complication was hemorrhage, and the method was diagnostically reliable. A plea is made for obtaining histologic proof of Hirschsprung’s disease before undertaking definitive treatment. REFERENCES 1. Swenson, O., Neuhauser, E. B. C., and Pickett, L. K.: New concepts of the etiology, diagnosis and treatment of congenital megacolon (Hirschsprung’s disease). Pediatrics 4:201, 1949. 2. Lawson, J. 0. N., and Nixon, H. H.: AnaI canal pressures in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 2: 544,1967. 3. Meier-Ruge, W., Lutterbeck, P. M., Herzog, B., Morger, R., Moser, R., and SchHrli, A.: Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 7:11, 1972. 4. Swenson, O., Fisher, J. H., and MacMahon, H. E.: Rectal biopsy as aid in diagnosis of Hirschsprung’s disease. New Eng. J. Med. 253:632,1955. 5. -, and Gherardi, G. D.: Rectal biopsy ‘m the diagnosis of Hirschsprung’s disease; experience with one hundred biopsies. Surgery 45:690, 1959. 6. Shim, W. K. T., and Swenson, D.: Treatment of congenital megacolon in 50 infants. Pediatrics 38:185, 1966. 7. Hiatt, R. 8.: Physiological basis for
surgery in congenital megacolon. Surg. Clin. N. Amer. 38(2) :561, 19.58. 8. Gherardi, G. T.: Pathology of the ganglionic-aganglionic junction in congenital megacolon. Arch. Path. (Chicago) 69:520, 1960. 9. Bodian, M.: Pathological aids in the diagnosis and management of Hirschsprung’s disease. In Dyke, S. C. (Ed.): Recent Advances in Clinical Pathology Series III. London, Churchill, 1960. 10. Shandling 8.: A new technique in the diagnosis of Hirschsprung’s disease. Canad. J. Surg. 4:298, 1961. 11. Dobbins, W. O., and Bill, A. H.: Diagnosis of Hirschsprung’s disease excluded by rectal suction biopsy. New Eng. J. Med. 272:990, 1965. 12. Campbell, P.E., and Noblett, H. R.: Experience with rectal suction biopsy in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 4:410, 1969. 13. Noblett, H. R.: A rectal suction biopsy tube for use in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 4~406, 1969.
Discussion Dr.L.M. Linkner (Phoenix): We still feel that a full-thickness biopsy that includes both the plexus of Auerbach and of Meissner is important in the diagnosis of Hirschsprung’s disease. We favor a full-thickness biopsy before proceeding with definitive treatment. Dr. A. H. Bill (Senffle): We have used this same diagnostic method with a suction biopsy tube, which is also known as a “Rubin tube.” This is widely available in the United States. A similar tube has been developed and used in Melbourne, Australia. Each of these tubes secures a bite of mucosa and submucosa. The interpretation of this specimen requires the services of a pathologist who is both knowledgeable and patient. Obtaining a specimen is very simple from the patient’s point of view. There is no pain involved. It does require that the instrument be maintained nicely, so that there will be at least 20 cm of negative pressure to pull the mucosa into the biting tip. Dr. B. Kehret (Berne): We do a superficial biopsy, too, but not with the instrument that was mentioned by the author. We have had very good results with suction biopsy. We do not need a full-thickness specimen of rectal wall because in Switzerland we have a special method for diagnosis of Hirschsprung’s disease. We just do histochemical
552
SHANDLING AND AULDIST
examination of the specimen, a high choline esterase level being diagnostic of the disease. We do not need to see the ganglion cell. Dr. W. M. Donnellan (Chicago): We have used this biopsy and the method that Dr. Bill suggested in excluding Hirschsprung’s disease. I am interested that it is now presented as making possible the diagnosis through the absence of ganglion cells. We have had difficulty with it because the ganglion cells in infancy are much smaller than they are in the older age group. I wonder if the author would comment on that problem. I question whether anesthesia is needed for proctoscopy in the majority of children of any age group. I believe that superficial biopsies can be taken without anesthesia during routine proctoscopy on the ward. Dr. Auldist: It has been shown that if ganglion cells are absent from one of the intestinal plexuses, they are also absent from the other. Thus, if one plexus is clearly seen on microscopy, this is sufficient. We regard our specimen as containing the same depth of mucosa as Dr. Bill’s suction biopsy. We hope that his use of the suction biopsy doesn’t mean he has handed the procedure over to the physicians. We agree with Dr. Donnellan that ganglion ceIIs are smatler in the neonate and we have now started to fix our specimens in Zenker’s solution, which we find gives better definition of the cells. In the newborn especially, this is important to the pathologist.
H
IRSCHSPRUNG’S DISEASE although still not completely understood, is characterized by the presence of a segment of aganglionic bowel extending proximally from the anus for a variable distance.’ Despite careful assessment of clinical features, radiographs, and other investigations,2*3 the only unequivocal criterion for diagnosis of this disease is the histologic demonstration of the complete absence of ganglion cells in the distal bowel. Hirschsprung’s disease may present in the neonatal period as intestinal obstruction or, in older children, as constipation. In the neonate early diagnosis and appropriate treatment are necessary to prevent morbidity and mortality from complications such as enterocolitis or perforation. In older children a simple, safe, and reliable method is desirable to distinguish those with Hirschsprung’s disease from a much larger number with functional constipation. The original biopsy operation as described by Swenson (195~)~ was designed to provide the pathologist with a large sample of Auerbach’s plexus. This method of biopsy is not easy to do and may be complicated by bleeding, infection, or scarring. Orientation of muscle so obtained is often difficult, and despite the formal nature of the operation an adequate specimen is not always acquired. The complications of this technique have prompted the use of other methods of biopsy. Hiatt (19%)’ described a rectal wall biopsy via a posterior proctotomy, an operation in which the rectum was approached from behind and the mucous membrane Ieft intact. However, we found this method to be no less formidable than Swenson’s method. In our hands posterior proctotomy yielded striated muscle with distressing frequency on the few occasions it was used. Retrorectal fibrosis following such a biopsy could interfere with the subsequent definitive operation. In 1960 Gherardi* showed the level of aganglionosis was the same for the submucosal and the intermyenteric plexuses and BodianQ first advocated the use of a large superficial biopsy of mucosa and submucosa to diagnose Hirschsprung’s disease. One of the authorslo in 1961 proposed punch biopsy of a rectal valve to obtain a small sample of both plexuses, and subsequently Dobbins and Bill” From fhe Hospital for Sick Children, Toronto, Onf., Cunadu, and the Uniuersify of Toronto, Toronto, Ont., Canada. Presented uf the Third Annuul Meeting of the American Pediatric Surgical Association, Hot Springs, Va., April 13-15, 1972. Barry Shandling, MB., Ch.B., F.R.C.S. (Eng.), F.R.C.S. (C.): Stuff Surgeon, Hospital for Sick Children, Toronto, Onf., Canada, and Associate, Depurfmenf of Surgery, University of Toronto, Toronto, Onf., Canada. Alex. W. Auldist, M.B., B.S., F.R.A.C.S.: Chief Resident in Generut Surgery, Hospital for Sick Children, Toronto, Ontario, Canada. 545
Journal of Pediatric Surgery, Vol. 7, No. 5 (October-November),
1972
DIAGNOSIS OF HIRSCHSPRUNG’S
DISEASE
547
described suction biopsy of rectal mucosa to obtain a small submucosal specimen. Campbell and Noblett12,r3 reported experience with rectal suction biopsy and concluded that the method could be used to diagnose Hirschsprung’s disease accurately. This paper describes the technique and results of punch biopsy of the rectum for the diagnosis of Hirschsprung’s disease as used at the Hospital for Sick Children, Toronto, in 1961-1970. MATERIALS
AND METHODS
The technique used exclusively since 1961 is punch biopsy of either of a valve of Houston or of the rectal wall. No anesthesia is used in older cooperative children, although children between 1 and 6 yr of age do require anesthesia. The patient is placed in the lateral position. A sigmoidoscope is introduced into the rectum and a biopsy taken of the lowest valve of Houston using a laryngeal biopsy forceps (Fig. 1). Initially, an attempt was always made to include the muscle layer in the biopsy, but we have found that a specimen of submucosa is sufficient for diagnostic purposes. In neonates anesthesia is unnecessary. The patient is placed in the dorsal position with the hips flexed, and a nasal speculum is inserted into the anus. A biopsy is taken with the laryngeal biopsy forceps from the posterior wall of the rectum l-2 cm above the pectinate line. Bleeding is usually minimal, and a small gauze sponge is left in the rectum to be passed with the patient’s next stool. Specimens are fixed in formalm, and sections are stained with hematoxylin and eosin. The pathologist examines Z-SO sections and the result is available within 24 hr. An adequate amount of submucosa must be present or the specimen is considered inadequate and a repeat requested. In the 10 years 1961-70, rectal punch biopsies were taken on 337 occasions from 360 patients. Excluded from this series are rectal biopsies for ulcerative colitis or granulomatous colitis. Included are 34 biopsies for reasons other than suspected Hiischsprtmg’s disease, but all biopsies were examined for ganglion cells. The ages of the patients at the time of rectal biopsy are shown in Fig. 2. Biopsies were done on patients ln the first year of life on 131 occasions, and of these 104 were in patients less than 8 wk of age. Figure 3 shows the incidence of the procedure throughout the period of study.
COMPLICATIONS
Bleeding was reported as a complication if the patient required a transfusion, if repacking or the use of cautery was necessary, or if the hemoglobin
546
SHANDLING AND AULDIST
2.12
mos
1.5
!HO 10.15
Yrs
Fig. 2. Age at rectal punch biopsy; 387 biopsies.
dropped as much as 2 g/100 ml. There were 13 such patients, including seven requiring transfusion and five repacking or cautery. One had a 2 g/loo ml fall in hemoglobin but required neither transfusjon nor repacking. Transient respiratory infections occurred after operation in six patients who had had general anesthesia. No instance of perforation, infection, or abscess formation was encountered in this series (Table 1). There were five deaths within 48 hr of biopsy. These were in neonates in four cases. The other death was of a 5-mo-old child who had failed to gain weight since birth and in whom a diagnosis was not made even after death. In two cases death was due to preexisting severe respiratory disease. In the other three babies hemorrhage requiring transfusion occurred after rectal biopsy and must be considered a contributing factor even though each had severe associated disease, including preexisting peritonitis, congenital heart disease, pneumonia, and idiopathic hypoglycemia. RESULTS
No ganglion cells were present in the rectal punch biopsies on 128 occasions. In 100 of these the absence of ganglion cells subsequently was confumed at laparotomy, at autopsy, or at definitive operation for Hirschsprung’s
-66
61
1
T
J
70
Fig. 3. Incidence of rectal punch biopsy; 387 biopsies.
549
DIAGNOSIS OF HIRSCHSPRUNG’S DISEASE
disease. The follow-up is incomplete for II additional biopsies either because the definitive operation has not yet been performed or a Soave-type endorectal pull-through produced only a mucosal specimen. A total of 111 biopsies was done on 98 patients in whom the present diagnosis is Hirschsprung’s disease. Seventeen biopsies were reported as not revealing ganglion cells, although the patient did not have Hirschsprung’s disease. We have called this “false absence of ganglion cells.” On five occasions the pathologist considered that the specimen contained insufficient submucosa and requested a repeat biopsy. In nine patients the biopsy was repeated because of doubt about the clinical diagnosis and repeat biopsy showed the presence of ganglion cells. On three occasions there was said to be an adequate specimen but the result was ignored because of the clinical picture. The slides of these last 12 patients initially reported as aganglionic have now been reviewed. Seven of the original biopsies show definite ganglion cells; the remaining five failed to include the submucosa and so are inadequate. Thus, ganglion cells were shown to be present in every adequate biopsy in every patient who did not have Hirschsprung’s disease. Ganglion cells were reported to be present in the rectal biopsy on 259 occasions. It is noteworthy that in some patients a strong clinical and radiological diagnosis of Hirschsprung’s had been made. On no occasion when the pathologist reported the presence of ganglion cells were these subsequently shown to be absent. DISCUSSION
Figure 4 shows the radiographic findings in an infant admitted at the age of 2 days with vomiting, gross abdominal distension, and failure to pass meconium. Although the clinical and radiographic findings were typical of Hirschsprrmg’s disease and a colostomy seemed urgently needed, we did a rectal biopsy. Much to our surprise, it showed ganglion cells to be present. After a colonic irrigation, the infant’s distension disappeared and she was 100% normal upon discharge 7 days later. She is now thriving at the age of 6 mo. Except for the rectal biopsy at the age of 2 days, she has never had any operation. Rectal biopsy should be simple, safe, and diagnostically reliable. Punch biopsy is a simple method with little risk. The chief complication, hemorrhage, is readily recognized and controlled. We recommend preliminary coagulation studies on severely ill patients, especially in infants with chronic diarrhea. Scarring and infection do not occur with this method. If the specimen does not contain a sufficient amount of submucosa, the
Table 1. Complications in 367 Rectal Biopsies Scarrlng Perforation or peritonitis Respiratory Infection Bleeding
none none 6 13
SHANDLING AND AULDIST
Fig. 4. X-ray showing classic HiI rsNchsprung’s ) disease.
may request a repeat biopsy. This occurred five times in this series. The amount of submucosa necessary is an important factor. Campbell and Noblettr2 attempted to quantitate this and stated that a 2-mm area of submucosa is adequate if the biopsy is taken above the zone of hypoganglionosis, which extends in the submucosa for 17 mm above the pectinate line. We have no quantitative data on this matter, but believe that the experience and capability of the pathologist are even more important. In this series several patients could have had inappropriate treatment because of reports of absent ganglion cells. However, review of the slides has shown that there were no instances of “false absence of ganglion cells” if the specimens contained adequate submucosa and were examined by an experienced pathologist. If the biopsy is inadequate, it should be repeated. We are now fixing all rectal biopsy specimens in Zenker’s solution to give better definition of the cells. We regard rectal biopsy as absolutely essential in establishing the diagnosis of Hirschsprung’s disease. It is almost always possible to wait 24 hr while the is the initial treatment chosen. Certainly, resection of the aganglionic bowel in Hirschsprung’s disease should not be undertaken without having unequivocal biopsy specimen is processed before doing a defunctioning colostomy, if that histologic proof of the diagnosis. pathologist
SUMMARY
Ten years’ experience with punch biopsy of the rectum for the diagnosis of
551
DIAGNOSIS OF HIRSCHSPRUNG’S DISEASE
Hirschsprung’s disease is reported. There were 387 biopsies on 360 patients, of whom 98 were eventually diagnosed as having Hirschsprung’s disease. Of these, 181 biopsies were done on patients less than I yr of age and 104 of less than 8 wk. The only significant complication was hemorrhage, and the method was diagnostically reliable. A plea is made for obtaining histologic proof of Hirschsprung’s disease before undertaking definitive treatment. REFERENCES 1. Swenson, O., Neuhauser, E. B. C., and Pickett, L. K.: New concepts of the etiology, diagnosis and treatment of congenital megacolon (Hirschsprung’s disease). Pediatrics 4:201, 1949. 2. Lawson, J. 0. N., and Nixon, H. H.: AnaI canal pressures in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 2: 544,1967. 3. Meier-Ruge, W., Lutterbeck, P. M., Herzog, B., Morger, R., Moser, R., and SchHrli, A.: Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 7:11, 1972. 4. Swenson, O., Fisher, J. H., and MacMahon, H. E.: Rectal biopsy as aid in diagnosis of Hirschsprung’s disease. New Eng. J. Med. 253:632,1955. 5. -, and Gherardi, G. D.: Rectal biopsy ‘m the diagnosis of Hirschsprung’s disease; experience with one hundred biopsies. Surgery 45:690, 1959. 6. Shim, W. K. T., and Swenson, D.: Treatment of congenital megacolon in 50 infants. Pediatrics 38:185, 1966. 7. Hiatt, R. 8.: Physiological basis for
surgery in congenital megacolon. Surg. Clin. N. Amer. 38(2) :561, 19.58. 8. Gherardi, G. T.: Pathology of the ganglionic-aganglionic junction in congenital megacolon. Arch. Path. (Chicago) 69:520, 1960. 9. Bodian, M.: Pathological aids in the diagnosis and management of Hirschsprung’s disease. In Dyke, S. C. (Ed.): Recent Advances in Clinical Pathology Series III. London, Churchill, 1960. 10. Shandling 8.: A new technique in the diagnosis of Hirschsprung’s disease. Canad. J. Surg. 4:298, 1961. 11. Dobbins, W. O., and Bill, A. H.: Diagnosis of Hirschsprung’s disease excluded by rectal suction biopsy. New Eng. J. Med. 272:990, 1965. 12. Campbell, P.E., and Noblett, H. R.: Experience with rectal suction biopsy in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 4:410, 1969. 13. Noblett, H. R.: A rectal suction biopsy tube for use in the diagnosis of Hirschsprung’s disease. J. Pediat. Surg. 4~406, 1969.
Discussion Dr.L.M. Linkner (Phoenix): We still feel that a full-thickness biopsy that includes both the plexus of Auerbach and of Meissner is important in the diagnosis of Hirschsprung’s disease. We favor a full-thickness biopsy before proceeding with definitive treatment. Dr. A. H. Bill (Senffle): We have used this same diagnostic method with a suction biopsy tube, which is also known as a “Rubin tube.” This is widely available in the United States. A similar tube has been developed and used in Melbourne, Australia. Each of these tubes secures a bite of mucosa and submucosa. The interpretation of this specimen requires the services of a pathologist who is both knowledgeable and patient. Obtaining a specimen is very simple from the patient’s point of view. There is no pain involved. It does require that the instrument be maintained nicely, so that there will be at least 20 cm of negative pressure to pull the mucosa into the biting tip. Dr. B. Kehret (Berne): We do a superficial biopsy, too, but not with the instrument that was mentioned by the author. We have had very good results with suction biopsy. We do not need a full-thickness specimen of rectal wall because in Switzerland we have a special method for diagnosis of Hirschsprung’s disease. We just do histochemical
552
SHANDLING AND AULDIST
examination of the specimen, a high choline esterase level being diagnostic of the disease. We do not need to see the ganglion cell. Dr. W. M. Donnellan (Chicago): We have used this biopsy and the method that Dr. Bill suggested in excluding Hirschsprung’s disease. I am interested that it is now presented as making possible the diagnosis through the absence of ganglion cells. We have had difficulty with it because the ganglion cells in infancy are much smaller than they are in the older age group. I wonder if the author would comment on that problem. I question whether anesthesia is needed for proctoscopy in the majority of children of any age group. I believe that superficial biopsies can be taken without anesthesia during routine proctoscopy on the ward. Dr. Auldist: It has been shown that if ganglion cells are absent from one of the intestinal plexuses, they are also absent from the other. Thus, if one plexus is clearly seen on microscopy, this is sufficient. We regard our specimen as containing the same depth of mucosa as Dr. Bill’s suction biopsy. We hope that his use of the suction biopsy doesn’t mean he has handed the procedure over to the physicians. We agree with Dr. Donnellan that ganglion ceIIs are smatler in the neonate and we have now started to fix our specimens in Zenker’s solution, which we find gives better definition of the cells. In the newborn especially, this is important to the pathologist.