Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from Gut, 1986, 27, 534-541

Hirschsprung's disease and idiopathic megacolon in adults and adolescents

P R H BARNES, J E LENNARD-JONES, P R HAWLEY, AND I P TODD St Mark's Hospital, London.

SUMMARY The distinction between Hirschsprung's disease and idiopathic megacolon in child- hood dates from the classic clinical, radiological, and histological studies of Bodian, Stephens, and Ward. This article describes clinical experience over 15 years of 94 patients in whom megacolon of these two types was recognised for the first time after the age of 10, to illustrate the problems of diagnosis and treatment in later years. Just as it is now recognised that patients with the clinical characteristics of Hirschsprung's disease may have one of several abnormalities of the myenteric plexus, including not only absence of ganglion cells, but also patchy or zonal loss,2 3 abnormal neurones4 or neuronal dysplasia,3 5 6 so idiopathic megacolon may also be a heterogeneous group of cases. This paper suggests on clinical grounds that those patients with idiopathic megacolon whose symptoms start in childhood differ from those whose symptoms develop in later years.

In the years 1968 to 1983, 134 patients over the age biopsies or operation specimens and the presence or of 10 years with Hirschsprung's disease or idiopathic absence of the rectosphincteric reflex. http://gut.bmj.com/ megacolon were investigated and treated as inpatients at St Mark's Hospital. Of the 51 patients BARIUM ENEMA EXAMINATION with Hirschsprung's disease, the 29 diagnosed and (a) Hirschsprung's disease (29) treated for the first time after the age of 10 years are A previous study7 based on radiographs from 20 reported here; the remainder (22) had Hirsch- patients in this series compared with a control group sprung's disease diagnosed previously, usually in has shown that megacolon can be defined by early childhood. Megacolon of the non-Hirsch- measurements of bowel width and that such a defini- on September 30, 2021 by guest. Protected copyright. sprung's type, defined by histological and physio- tion corresponds well with the opinion of radio- logical studies, was seen in 65 patients; patients with logists. Where possible a definition of megacolon as an apparent cause for the megacolon, such as pre- exceeding 6 5 cm in width at the rectosigmoid viously treated anal atresia, were excluded as were junction has been taken but in many cases the radio- 16 patients with incomplete diagnostic data. logical opinion had to be accepted as films were no Follow up information was obtained in 82% of the longer available. patients, either from notes made at outpatient and All 29 patients had x-rays performed or reviewed inpatient consultations or from a postal question- at St Mark's Hospital. The barium enema was naire where necessary. suggestive of Hirschsprung's disease in 22, reported as megacolon without an obvious short-segment in Methods six and was reported as being normal in one. The upper limit of the distal narrowed segment was in The diagnosis of megacolon was made by barium the rectosigmoid in 20 (Fig. 1) and in the descending enema. The distinction between Hirschsprung's colon in two. disease and the non-Hirschsprung's type was made by a combination of histological examination of (b) Non-Hirschsprung's megacolon (65) All 65 patients had a barium enema examination. Addrcss for corrcspondenicc: P'rotessor J F I Lennard-JoIIs. St Mark's Megarectum was reported in 31, megarectum and Hospital. City Road. London E'CV2I11S megasigmoid in 10 (Fig. 2), and in 24 the upper limit Rcccived for publicattoni 27 Auguist 1985. of the widened bowel was not reported. 534 Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from Hirschsprung's disease and idiopathic megacolon in adults and adolescents 535

Fig. 2 Barium enema appearance ofmegarectum and megasigmoid.

was absent in 18 and reported as present in one http://gut.bmj.com/ patient who had typical features of Hirschsprung's Fig. 1 Barium enema showing the typical distal narrow disease on a subsequent rectal biopsy. segment of Hirschsprung's disease. (b) Non-Hirschsprung's megacolon (65) In the 41 patients tested, the reflex was present in 34 HISTOL OGY and absent in seven. Those patients in whom the (a) Hirschsprung's disease (29) reflex was absent all had normal histology on on September 30, 2021 by guest. Protected copyright. Rectal biopsy of the full thickness type with conven- biopsy. tional histological staining revealed typical appearances of Hirschsprung's disease in 24 patients 25 and in three the findings were suggestive but not diagnostic. Two of the latter had confirmation of the diagnosis on examination of an operative specimen 20- and one on the basis of an absent rectosphinteric reflex. Two patients did not have a biopsy done Hirschsgprugs disease before surgery but in both cases the diagnosis was Patients 15' confirmed on examination of the operative (No) specimen. 10' (b) Non-Hirschsprung's mnegacolon (65) Fifty four patients had a rectal biopsy which was 5. normal in 52 and equivocal in two.

RECTOSPHINTERIC REFLEX 5 10 15 20 25 30 35 40 45 (a) Hirschsprung's disease (29) Age at onset of symptoms (years) Nineteen patients were tested pre-operatively for Fig. 3 Age at onset ofsymptoms in Hirschsprung's disease the presence of a rectosphinteric reflex. The reflex presenting after the age of10 years. Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from 536 Barnes, Lennard-Jones, Hawley, and Todd Clinical features hood (below the age of five years). Two patients first developed symptoms in adolescent years before AGE AT ONSET AND PRESENTATION (Fig. 3) (a) Hirschsprung's disease the age of 20 and one man of 73 reported that his Most patients (21) had been told that symptoms symptoms began at the age of 40. One patient first were present from birth or the neonatal period and developed symptoms during pregnancy and in two five patients dated their symptoms to early child- others symptoms were worse at this time. Mean age at presentation was 26 years (range 11-73 years). 30 (b) Non-Hirschsprung's megacolon (Fig. 4) It was apparent that a large proportion of patients 25 Indicates fae.cal with megacolon of the non-Hirschsprung's type had d soiling the onset of symptoms in early childhood and these cases commonly had symptoms of faecal soiling and 20 Idiopathic megac,:olon were impacted on rectal examination. Other patients first noted symptoms at various ages Patients throughout later life and in general did not have (No) 15 faecal soiling or gross rectal impaction. For the purpose of analysis, patients with non-Hirsch- 10 sprung's megacolon were thus divided into two groups, based upon the age at which symptoms developed, arbitrarily defined as less than or equal 5. to 10 years (childhood megacolon) and greater than 10 years (adult megacolon). 0 I The group of 35 patients with childhood onset first 5 10 15 20 25 30 35 440 45 50 55 60 developed symptoms at a mean age of 3 4 years Age at onset of symptoms (years) (range from birth - 10 years) and presented at a Fig. 4 Age at onset ofsymptoms in idiopalthic megacolon mean age of 16 years (range 10-27 years). The group presenting after the age of 10 years. of 30 patients with later development of symptoms http://gut.bmj.com/

_ /. of total patients in each group affected m Lm I

Adult on September 30, 2021 by guest. Protected copyright. Hirschsprung's 6ommi rm| Childhood H megacolon

Adult megacolon

I I Fig. 5 (Com)parison ofthe symptoms and signs L,=u at presentiaionl alier the age ofJ10 Yearrs in Hirschsprung 's idiopathic nmegacolon o& l& disease, with on.set oJ.symptomns in childhood, and \%Z2CC,S° idiopathic meegacolon with onset off.vmptom.s in adolescence or adult liJ(e. Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from Hirschsprung's disease and idiopathic megacolon in adults and adolescents 537 had a mean age of onset of 29 years (range 11-59 constipation as the predominant symptom, and most years) and presented at a mean age of 38 years evacuated the bowel only with enemas. Abdominal (range 15-68 years). pain was also a common symptom (24 patients) as was abdominal swelling (22 patients). Only two SEX patients reported faecal soiling, this developed in a The patients with Hirschsprung's disease comprised girl of 14 after a manual dilatation of the anus for 19 men and 10 women. There were 23 men and 12 constipation and in a man with a 30 year history of women with idiopathic megacolon whose symptoms constipation just before his first consultation at the began in childhood and 17 men and 13 women who age of 73. An abdominal mass was palpable in 16 first developed symptoms after the age of 10 years. patients and seven had stool in the rectum on first examination. In most cases the rectum was empty, HISTORY, SYMPTOMS AND SIGNS AT PRESENTATION faeces being encountered at a higher level with the (Fig. 5) sigmoidoscope. Three patients gave a family history (a) Hirschsprung's disease of Hirschsprung's, two in siblings and one with an All patients in the Hirschsprung's group reported affected child. http://gut.bmj.com/ on September 30, 2021 by guest. Protected copyright.

Fig. 6 Gastrograffin (water soluble) contrast enema showingfaecal impaction in idiopathic megacolon. Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from 538 Barnes, Lennard-Jones, Hawley, and Todd (b) Idiopathic megacolon onset in childhood times a day), although occasionally some took Severe constipation was the major symptom in 34 of laxatives. One patient whose postoperative course 35 patients in this group, one patient reported was complicated by a pelvic abscess had persistent diarrhoea (possibly overflow soiling associated with constipation and soiling. Two other patients also rectal impaction). Faecal soiling had been trouble- experienced mild intermittent soiling. One patient some in 28, 34 had symptoms of abdominal swelling complained of pelvic pain and dyspareunia and and 19 reported abdominal pain or discomfort. An required trimming of the rectal septum. abdominal mass was palpable in 33 and 34 had rectal impaction at the first visit (Fig. 6). The onset of (ii) Resection and coloanal anastomosis symptoms was related to a non-specific, possibly Of eight patients in this group, seven were followed viral illness in two, an anal fissure in one and the use regularly (or responded to the questionnaire) over a of antidiarrhoeal drugs in one. Six patients were mean of 2-8 years (range 1-7 years) with a mean of thought to be socially or psychologically disturbed four visits. Seven reported regular bowel function, and two were mentally retarded, but in the two with mild faecal soiling, while one remained remainder no precipitating event or underlying constipated and took laxatives. cause was recorded. (iii) Internal sphincterotomy (c) Idiopathic megacolon onset in adult life The single patient treated with internal sphinc- Constipation was the major symptom in 19, but terotomy remained well but still required osmotic seven complained predominantly of diarrhoea and laxatives and bulk forming agents three years after four had alternating diarrhoea and constipation. operation to maintain regular bowel actions. Abdominal pain was a symptom in 28 patients and 23 reported abdominal swelling. In contrast with the group with onset in childhood, only two patients in IDIOPATHIC MEGACOLON ONSET IN CHILDHOOD this group had faecal soiling and incontinence and In this group of 35, 33 were followed for a mean of this was only associated with attacks of diarrhoea; three years (range 1 to 15 years) with a mean of six neither had rectal impaction on initial examination. visits.

Faecal impaction was only recorded in 10 of these http://gut.bmj.com/ patients and in some the rectum was dilated and (i) Medical treatment empty, the sigmoidoscope 'falling in' to 25 cm. Only Of the 26 patients treated medically, usually with four cases had a palpable abdominal mass. osmotic laxatives and often with suppositories or Eleven patients in this group had had previous enemas, 18 had a successful outcome with regular surgical treatment, in two patients rectopexy for bowel actions and no soiling as long as they prolapse, in six a sigmoid colectomy, in four a resec- continued medication. A further five remained well tion with caecorectal anastomosis and in one a left while taking laxatives but when treatment was hemicolectomy. Two patients had grand mal stopped developed recurrent constipation and on September 30, 2021 by guest. Protected copyright. seizures and were on long term anti-convulsants and impaction, and then often needed admission to two had psychological disorders requiring treatment hospital. Three patients had a poor result being with major tranquillisers. Three patients were unable to tolerate or adjust the dose of laxatives thought to have low intelligence although formal because of low intelligence, poor compliance, or testing was not done. No precipitating event or pre- side effects. disposing factor was identified in the remainder. (ii) Surgical treatment Results Nine cases were treated surgically, because of failure of medical treatment. Of four treated by HIRSCHSPRUNG'S DISEASE colectomy and caecorectal anastomosis, two All 29 patients in this group (19 men, 10 women) improved, one remained constipated and one did were treated surgically, 20 with a Duhamel opera- not respond to the questionnaire. One patient had a tion, eight with resection and Soave coloanal Soave coloanal anastomosis with poor results and anastomosis and one with internal sphincterotomy. required a colostomy. Of three who had a Duhamel procedure, two had regular bowel actions, (one with (i) Duhamel operation (20 patients) minor faecal soiling) and one did not respond to the Follow up of 17 patients was satisfactory over a questionnaire. mean of 4*0 years (range 3-16 years) and a mean of Five of nine surgical specimens showed a thick, 4-5 visits. Of the 17 patients, 16 reported good hypertrophic bowel wall, one was thinned and three results with regular bowel function (usually several were reported as being of normal thickness. Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from Hirschsprung's disease and idiopathic megacolon in adults and adolescents 539

IDIOPATHIC MEGACOLON ONSET IN ADULT LIFE The term idiopathic (non-Hirschsprung's) This group comprised 30 patients, 27 of whom were megacolon has been used in this paper to describe a followed up for a mean of five years (range one-13 condition in which the diameter of the rectum years) with a mean of six visits. and/or colon demonstrated by barium enema is increased'4 but there is no evidence of an (i) Medical treatment aganglionic segment. Measurements of radiographs Eight received medical treatment alone, with from 20 of the 65 patients included in this paper for laxatives, enemas and suppositories and four did whom x-rays were available have shown that in well with regular bowel motions. One patient had a every case the diameter of the distal bowel fell poor result with persistent symptoms and three did outside the normal range7 confirming the radio- not respond to the questionnaire. logist's opinion. The radiographs of the remaining 45 patients have been regarded by the radiologists as but were not available (ii) Surgical treatment characteristic of megacolon for measurement. Surgical treatment was undertaken for 22 patients with after failure of medical treatment. Of 10 treated by The clinical analysis of the 65 patients megacolon suggests that two subgroups colectomy and caecorectal anastomosis, results were idiopathic can be distinguished, one a group of patients whose good in seven, with regular, often frequent bowel actions, without soiling, but three had persistent symptoms began in childhood and the other group constipation and pain. Of six treated by colectomy those who developed symptoms after the age of 10 years, often as adults. Among the former, faecal and ileorectal anastomosis, four were improved with rectal of stool was almost regular bowel actions, one remained constipated soiling with impaction among the latter it was rare. A further requiring laxatives and one did not reply to the universal, but important difference was that medical treatment was questionnaire. Two patients were found to have developed megaileum after ileorectal anastomosis. successful in the majority of patients with early onset of symptoms, whereas it was unsuccessful in Four patients had a partial colectomy with a good the of those with onset in later life for result in two and poor result in the other two majority constipation. Five patients whom surgical treatment was often needed. The because of persistent data in six of the latter or limited anatomical patients developed early late adhesive obstruction after http://gut.bmj.com/ resection. whose colonic myenteric plexus was studied by the silver staining technique15 16 showed an abnor- Examination of the surgical specimen revealed a mality in every case. It is tempting to regard those thinned colonic wall in 12 and in six of these, with onset in childhood as the small proportion of examination by Smith's technique of silver staining, children with rectal inertia17 18 whose trouble did showed a disorder of the myenteric plexus. The not resolve before the age of 10, and those with later remaining 10 specimens appeared normal on onset as having an acquired disorder of the conventional histological examination but were not myenteric plexus. on September 30, 2021 by guest. Protected copyright. examined with Smith's technique. The distinction between Hirschsprung's disease and idiopathic megacolon can be difficult. A patient Discussion with a history of faecal soiling since childhood is most likely to have idiopathic megacolon, yet soiling Hirschsprung's disease is diagnosed less often in does occur in a few children with short segment adult life than idiopathic megacolon.8 The 29 Hirschsprung's disease13 and in this series occurred patients with Hirschsprung's disease described in in two of 29 patients, in one after anal dilatation and this paper were all diagnosed for the first time in in the other over the age of 70 years. Abdominal adolescence or adult life. Although there are many pain, distension and a palpable abdominal mass are papers describing Hirschsprung's disease presenting common to both conditions. Hirschsprung's disease in childhood, there are few series of patients cannot be excluded by absence of a narrow distal diagnosed after the age of 10 years, though first segment on barium enema. 19 The recto-anal disten- diagnosis in later years is well recognised.>'3 sion reflex can rarely, as in this series, be reported as Although most patients gave a history of severe present in Hirschsprung's disease.2' 21 It has been constipation, often needing repeated enemas since suggested that in such cases the balloon used to birth, in two patients symptoms were first noted in distend the rectum may also dilate the anal canal or adolescence, and in one at the age of 40. In on distension it may pull the anal pressure probe childhood there is a marked male predominance but upwards into the rectum.22 Conversely, the reflex in this series almost one third of the patients were may be absent in non-Hirschsprung's megacolon female. because distension of a balloon in a capacious Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from 540 Barnes, Lennard-Jones, Hawley, and Todd rectum may not act as a sufficient stimulus, or References because the internal sphincter is already fully relaxed because of rectal impaction with stool or has 1 Bodian M, Stephens FD, Ward BCH. Hirschsprung's been stretched by therapeutic manoeuvres such as disease and idiopathic megacolon. Lancet 1949; 1: manual evacuation of the rectum. Whenever there is 6-11. doubt about the diagnosis, or the rectosphincteric 2 MacMahon RA, Moore CCM, Cussen LJ. Hirsch- reflex is absent, biopsy is essential. sprung-like syndromes in patients with normal ganglion The treatment of Hirschsprung's disease is sur- cells on suction rectal biopsy. J Pediatr Surg 1981; 16: gical. It is noteworthy that only one of 29 patients 835-9. was treated by extended internal sphincterotomy, 3 Nixon HH, Lake B. "Not Hirschsprung's disease" - though this operation has been recommended rare conditions with some similarities. S Afr J Surg especially for children with short segment disease.23 1982; 20: 97-104. Successful results were obtained both with the 4 Emery JL. Colonic retention syndrome (megacolon) Duhamel procedure and with resection as a Soave associated with immaturity of intestinal intramural sleeve coloanal anastomosis, though the former is plexus. Proc R Soc Med 1973; 66: 222-3. preferred. 10 24 5 Meier-Ruge W. Hirschsprung's disease: its aetiology, Idiopathic megacolon may respond to either pathogenesis and differential diagnosis. Curr Top medical or surgical treatment. The majority of Pathol 1974; 59: 131-79. patients with onset of symptoms in childhood were 6 Howard ER, Garrett JR, Kidd A. Constipation and congenital disorders of the myenteric plexus. J R Soc managed successfully with medical measures. It Med 1984; 77: suppl 3: 13-19. must to be emphasised that such patients tended 7 Preston DM, Lennard-Jones JE, Thomas BM. redevelop rectal impaction if laxatives were stopped Towards a radiologic definition of idiopathic mega- and thus such patients must be advised to continue colon. Gastrointest Radiol 1985; 10: 167-9. laxatives indefinitely. Unfortunately some patients 8 Jennings PJ. Megarectum and megacolon in adoles- are advised to stop treatment by their doctors who cents and young adults: results of treatment at St do not understand the nature of their problem. If Mark's Hospital. Proc R Soc Med 1967; 60: 7-8. rectal impaction reoccurs it can be difficult for the 9 Tobon F, Schuster MM. Megacolon: special diagnostic patient to empty the rectum even with enemas or and therapeutic features. Hopkins Med J 1974; 135: washouts and manual removal of faeces from the 91-105. http://gut.bmj.com/ rectum may be needed. In this group of patients 10 Todd IP. Adult Hirschsprung's disease. Br J Surg 1977; with childhood onset, it is those patients who cannot 64: 311-12. comply with long term medical treatment who tend 11 Orr JD, Scobie WG. Presentation and incidence of to need surgical treatment. Hirschsprung's disease. Br Med J 1983; 287: 1671. Patients who develop megacolon in adult life do 12 Rich AJ, Lennard TWJ, Wilsdon JB. Hirschsprung's not always suffer from constipation. Some complain disease as a cause of chronic constipation in the elderly. Br Med J mainly of abdominal pain and swelling with an 1983; 287: 1777-8. on September 30, 2021 by guest. Protected copyright. irregular bowel habit, and sometimes episodes of 13 Doig CM. Childhood constipation and late-presenting diarrhoea. Among those who develop symptoms Hirschsprung's disease. J R Soc Med 1984; 77: suppl 3: associated with a megacolon in adult life medical 3-5. treatment is often unsatisfactory. The patients are 14 Lane RHS, Todd IP. Idiopathic megacolon: a review of greatly troubled by abdominal pain and distension, 42 cases. Br J Surg 1977; 64: 305-10. and laxatives for the treatment of constipation may 15 Smith B. The neuropathology of the alimentary tract. be ineffective or produce uncontrollable diarrhoea. London: Arnold, 1972. The majority of such patients in this series were 16 Smith B, Grace RH, Todd IP. Organic constipation in offered surgical treatment for this reason. The adults. Br J Surg 1977; 64: 313-14. results were variable but about two-thirds were 17 Callaghan RP, Nixon HH. Megarectum: physiological helped by colectomy and ileorectal or caecorectal observations. Arch Dis Childh 1964; 39: 153-7. anastomosis. 18 Nixon HH. Megarectum in the older child. Proc R Soc The distinction between idiopathic megacolon of Med 1967; 60: 3-6. early and later onset suggested here on clinical 19 Patriquin H, Martelli H, Devroede G. Barium enema grounds needs further investigation by physiological in chronic constipation: is it meaningful? Gastroenter- and anatomical methods. In particular, information ology 1978; 75: 619-22. is needed about the thickness of the 20 Aaronson I, Nixon HH. A clinical evaluation of muscle wall25 anorectal pressure studies in the diagnosis of Hirsch- and the integrity of the myenteric plexus in patients sprung's disease. Gut 1972; 13: 138-46. who develop symptoms for the first time at different 21 Faverdin C, Dornic C, Arhan P, Devroede G, ages. Jehannin B, Revillon Y, Pellerin D. Quantitative Gut: first published as 10.1136/gut.27.5.534 on 1 May 1986. Downloaded from Hirschsprung's disease and idiopathic megacolon in adults and adolescents 541

analysis of anorectal pressures in Hirschsprung's years experience in diagnosis and treatment. Ann Surg disease. Dis Colon Rectum 1981; 24: 422-7. 1981; 6: 767-70. 22 Nagasaki A, Ikeda K, Suita S, Sumitomo K. Induction 24 McCready RA, Beart Jr RW. Adult Hirschsprung's of the rectoanal reflex by electric stimulation. Dis disease: results of surgical treatment at Mayo clinic. Dis Colon Rectum 1984; 27: 598-601. Colon Rectum 1980; 23: 401-7. 23 Udassin R, Nissan S, Lernau 0, Hod G. The mild form 25 Todd IP. Some aspects of adult megacolon. Proc R Soc of Hirschsprung's disease (short segment): fourteen Med 1971; 64: 561-5. http://gut.bmj.com/ on September 30, 2021 by guest. Protected copyright.