hirschsprung's diseaseand idiopathic megacolon...

Gut, 1986, 27, 534-541

Hirschsprung's disease and idiopathic megacolon inadults and adolescentsP 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, andWard. This article describes clinical experience over 15 years of 94 patients in whom megacolonof these two types was recognised for the first time after the age of 10, to illustrate the problemsof diagnosis and treatment in later years.

Just as it is now recognised that patients with the clinical characteristics of Hirschsprung'sdisease may have one of several abnormalities of the myenteric plexus, including not onlyabsence of ganglion cells, but also patchy or zonal loss,2 3 abnormal neurones4 or neuronaldysplasia,3 5 6 so idiopathic megacolon may also be a heterogeneous group of cases. This papersuggests on clinical grounds that those patients with idiopathic megacolon whose symptoms startin childhood differ from those whose symptoms develop in later years.

In the years 1968 to 1983, 134 patients over the ageof 10 years with Hirschsprung's disease or idiopathicmegacolon were investigated and treated asinpatients at St Mark's Hospital. Of the 51 patientswith Hirschsprung's disease, the 29 diagnosed andtreated for the first time after the age of 10 years arereported here; the remainder (22) had Hirsch-sprung's disease diagnosed previously, usually inearly childhood. Megacolon of the non-Hirsch-sprung's type, defined by histological and physio-logical studies, was seen in 65 patients; patients withan apparent cause for the megacolon, such as pre-viously treated anal atresia, were excluded as were16 patients with incomplete diagnostic data.Follow up information was obtained in 82% of the

patients, either from notes made at outpatient andinpatient consultations or from a postal question-naire where necessary.

Methods

The diagnosis of megacolon was made by bariumenema. The distinction between Hirschsprung'sdisease and the non-Hirschsprung's type was madeby a combination of histological examination of

Addrcss for corrcspondenicc: P'rotessor J F I Lennard-JoIIs. St Mark'sHospital. City Road. London E'CV2I11S

Rcccived for publicattoni 27 Auguist 1985.

biopsies or operation specimens and the presence orabsence of the rectosphincteric reflex.

BARIUM ENEMA EXAMINATION

(a) Hirschsprung's disease (29)A previous study7 based on radiographs from 20patients in this series compared with a control grouphas shown that megacolon can be defined bymeasurements of bowel width and that such a defini-tion corresponds well with the opinion of radio-logists. Where possible a definition of megacolon asexceeding 6 5 cm in width at the rectosigmoidjunction has been taken but in many cases the radio-logical opinion had to be accepted as films were nolonger available.

All 29 patients had x-rays performed or reviewedat St Mark's Hospital. The barium enema wassuggestive of Hirschsprung's disease in 22, reportedas megacolon without an obvious short-segment insix and was reported as being normal in one. Theupper limit of the distal narrowed segment was inthe rectosigmoid in 20 (Fig. 1) and in the descendingcolon in two.

(b) Non-Hirschsprung's megacolon (65)All 65 patients had a barium enema examination.Megarectum was reported in 31, megarectum andmegasigmoid in 10 (Fig. 2), and in 24 the upper limitof the widened bowel was not reported.

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Hirschsprung's disease and idiopathic megacolon in adults and adolescents

Fig. 2 Barium enema appearance ofmegarectum andmegasigmoid.

Fig. 1 Barium enema showing the typical distal narrowsegment of Hirschsprung's disease.

HISTOL OGY(a) Hirschsprung's disease (29)Rectal biopsy of the full thickness type with conven-tional histological staining revealed typicalappearances of Hirschsprung's disease in 24 patientsand in three the findings were suggestive but notdiagnostic. Two of the latter had confirmation of thediagnosis on examination of an operative specimenand one on the basis of an absent rectosphintericreflex. Two patients did not have a biopsy donebefore surgery but in both cases the diagnosis wasconfirmed on examination of the operativespecimen.

(b) Non-Hirschsprung's mnegacolon (65)Fifty four patients had a rectal biopsy which wasnormal in 52 and equivocal in two.

RECTOSPHINTERIC REFLEX(a) Hirschsprung's disease (29)Nineteen patients were tested pre-operatively forthe presence of a rectosphinteric reflex. The reflex

was absent in 18 and reported as present in onepatient who had typical features of Hirschsprung'sdisease on a subsequent rectal biopsy.

(b) Non-Hirschsprung's megacolon (65)In the 41 patients tested, the reflex was present in 34and absent in seven. Those patients in whom thereflex was absent all had normal histology onbiopsy.

25

20-

Patients(No)

15'

10'

5.

Hirschsgprugs disease

5 10 15 20 25 30 35 40 45Age at onset of symptoms (years)

Fig. 3 Age at onset ofsymptoms in Hirschsprung's diseasepresenting after the age of 10 years.

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Barnes, Lennard-Jones, Hawley, and Todd

Clinical features

AGE AT ONSET AND PRESENTATION (Fig. 3)(a) Hirschsprung's diseaseMost patients (21) had been told that symptomswere present from birth or the neonatal period andfive patients dated their symptoms to early child-

30

25

20

Patients(No) 15

10

5.

0

Indicates faed soiling

Idiopathic megac,

I5 10 15 20 25 30 35 4Age at onset of symptom

Fig. 4 Age at onset ofsymptoms in idiopalpresenting after the age of 10 years.

hood (below the age of five years). Two patientsfirst developed symptoms in adolescent years beforethe age of 20 and one man of 73 reported that hissymptoms began at the age of 40. One patient firstdeveloped symptoms during pregnancy and in twoothers symptoms were worse at this time. Mean ageat presentation was 26 years (range 11-73 years).

(b) Non-Hirschsprung's megacolon (Fig. 4)It was apparent that a large proportion of patients

.cal with megacolon of the non-Hirschsprung's type hadthe onset of symptoms in early childhood and thesecases commonly had symptoms of faecal soiling and

:olon were impacted on rectal examination. Otherpatients first noted symptoms at various agesthroughout later life and in general did not havefaecal soiling or gross rectal impaction. For thepurpose of analysis, patients with non-Hirsch-sprung's megacolon were thus divided into twogroups, based upon the age at which symptomsdeveloped, arbitrarily defined as less than or equalto 10 years (childhood megacolon) and greater than10 years (adult megacolon).The group of 35 patients with childhood onset first

40 45 50 55 60 developed symptoms at a mean age of 3 4 yearss (years) (range from birth - 10 years) and presented at athic megacolon mean age of 16 years (range 10-27 years). The group

of 30 patients with later development of symptoms

_ /. of total patients ineach group affected

AdultHirschsprung's

Childhoodmegacolon

m mL I

rm|

I I

\%Z2CC,S°

L,=uo& l&

Fig. 5 (Com)parison of the symptoms and signsat presentiaionl alier the age ofJ10 Yearrs inHirschsprung 's disease, idiopathic nmegacolonwith on.set oJ.symptomns in childhood, andidiopathic meegacolon with onset off.vmptom.s inadolescence or adult liJ(e.

H

Adultmegacolon

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had a mean age of onset of 29 years (range 11-59years) and presented at a mean age of 38 years(range 15-68 years).

SEXThe patients with Hirschsprung's disease comprised19 men and 10 women. There were 23 men and 12women with idiopathic megacolon whose symptomsbegan in childhood and 17 men and 13 women whofirst developed symptoms after the age of 10 years.

HISTORY, SYMPTOMS AND SIGNS AT PRESENTATION

(Fig. 5)(a) Hirschsprung's diseaseAll patients in the Hirschsprung's group reported

constipation as the predominant symptom, and mostevacuated the bowel only with enemas. Abdominalpain was also a common symptom (24 patients) aswas abdominal swelling (22 patients). Only twopatients reported faecal soiling, this developed in agirl of 14 after a manual dilatation of the anus forconstipation and in a man with a 30 year history ofconstipation just before his first consultation at theage of 73. An abdominal mass was palpable in 16patients and seven had stool in the rectum on firstexamination. In most cases the rectum was empty,faeces being encountered at a higher level with thesigmoidoscope. Three patients gave a family historyof Hirschsprung's, two in siblings and one with anaffected child.

Fig. 6 Gastrograffin (water soluble) contrast enema showing faecal impaction in idiopathic megacolon.

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(b) Idiopathic megacolon onset in childhoodSevere constipation was the major symptom in 34 of35 patients in this group, one patient reporteddiarrhoea (possibly overflow soiling associated withrectal impaction). Faecal soiling had been trouble-some in 28, 34 had symptoms of abdominal swellingand 19 reported abdominal pain or discomfort. Anabdominal mass was palpable in 33 and 34 had rectalimpaction at the first visit (Fig. 6). The onset ofsymptoms was related to a non-specific, possiblyviral illness in two, an anal fissure in one and the useof antidiarrhoeal drugs in one. Six patients werethought to be socially or psychologically disturbedand two were mentally retarded, but in theremainder no precipitating event or underlyingcause was recorded.

(c) Idiopathic megacolon onset in adult lifeConstipation was the major symptom in 19, butseven complained predominantly of diarrhoea andfour had alternating diarrhoea and constipation.Abdominal pain was a symptom in 28 patients and23 reported abdominal swelling. In contrast with thegroup with onset in childhood, only two patients inthis group had faecal soiling and incontinence andthis was only associated with attacks of diarrhoea;neither had rectal impaction on initial examination.Faecal impaction was only recorded in 10 of thesepatients and in some the rectum was dilated andempty, the sigmoidoscope 'falling in' to 25 cm. Onlyfour cases had a palpable abdominal mass.

Eleven patients in this group had had previoussurgical treatment, in two patients rectopexy forprolapse, in six a sigmoid colectomy, in four a resec-tion with caecorectal anastomosis and in one a lefthemicolectomy. Two patients had grand malseizures and were on long term anti-convulsants andtwo had psychological disorders requiring treatmentwith major tranquillisers. Three patients werethought to have low intelligence although formaltesting was not done. No precipitating event or pre-disposing factor was identified in the remainder.

Results

HIRSCHSPRUNG'S DISEASEAll 29 patients in this group (19 men, 10 women)were treated surgically, 20 with a Duhamel opera-tion, eight with resection and Soave coloanalanastomosis and one with internal sphincterotomy.

(i) Duhamel operation (20 patients)Follow up of 17 patients was satisfactory over amean of 4*0 years (range 3-16 years) and a mean of4-5 visits. Of the 17 patients, 16 reported goodresults with regular bowel function (usually several

Barnes, Lennard-Jones, Hawley, and Todd

times a day), although occasionally some tooklaxatives. One patient whose postoperative coursewas complicated by a pelvic abscess had persistentconstipation and soiling. Two other patients alsoexperienced mild intermittent soiling. One patientcomplained of pelvic pain and dyspareunia andrequired trimming of the rectal septum.

(ii) Resection and coloanal anastomosisOf eight patients in this group, seven were followedregularly (or responded to the questionnaire) over amean of 2-8 years (range 1-7 years) with a mean offour visits. Seven reported regular bowel function,two with mild faecal soiling, while one remainedconstipated and took laxatives.

(iii) Internal sphincterotomyThe single patient treated with internal sphinc-terotomy remained well but still required osmoticlaxatives and bulk forming agents three years afteroperation to maintain regular bowel actions.

IDIOPATHIC MEGACOLON ONSET IN CHILDHOODIn this group of 35, 33 were followed for a mean ofthree years (range 1 to 15 years) with a mean of sixvisits.

(i) Medical treatmentOf the 26 patients treated medically, usually withosmotic laxatives and often with suppositories orenemas, 18 had a successful outcome with regularbowel actions and no soiling as long as theycontinued medication. A further five remained wellwhile taking laxatives but when treatment wasstopped developed recurrent constipation andimpaction, and then often needed admission tohospital. Three patients had a poor result beingunable to tolerate or adjust the dose of laxativesbecause of low intelligence, poor compliance, orside effects.

(ii) Surgical treatmentNine cases were treated surgically, because offailure of medical treatment. Of four treated bycolectomy and caecorectal anastomosis, twoimproved, one remained constipated and one didnot respond to the questionnaire. One patient had aSoave coloanal anastomosis with poor results andrequired a colostomy. Of three who had a Duhamelprocedure, two had regular bowel actions, (one withminor faecal soiling) and one did not respond to thequestionnaire.

Five of nine surgical specimens showed a thick,hypertrophic bowel wall, one was thinned and threewere reported as being of normal thickness.


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IDIOPATHIC MEGACOLON ONSET IN ADULT LIFE

This group comprised 30 patients, 27 of whom were

followed up for a mean of five years (range one-13years) with a mean of six visits.

(i) Medical treatmentEight received medical treatment alone, withlaxatives, enemas and suppositories and four didwell with regular bowel motions. One patient had a

poor result with persistent symptoms and three didnot respond to the questionnaire.

(ii) Surgical treatmentSurgical treatment was undertaken for 22 patientsafter failure of medical treatment. Of 10 treated bycolectomy and caecorectal anastomosis, results weregood in seven, with regular, often frequent bowelactions, without soiling, but three had persistentconstipation and pain. Of six treated by colectomyand ileorectal anastomosis, four were improved withregular bowel actions, one remained constipatedrequiring laxatives and one did not reply to thequestionnaire. Two patients were found to havedeveloped megaileum after ileorectal anastomosis.Four patients had a partial colectomy with a goodresult in two and poor result in the other twobecause of persistent constipation. Five patientsdeveloped early or late adhesive obstruction afterresection.Examination of the surgical specimen revealed a

thinned colonic wall in 12 and in six of these,examination by Smith's technique of silver staining,showed a disorder of the myenteric plexus. Theremaining 10 specimens appeared normal on

conventional histological examination but were notexamined with Smith's technique.

Discussion

Hirschsprung's disease is diagnosed less often inadult life than idiopathic megacolon.8 The 29patients with Hirschsprung's disease described inthis paper were all diagnosed for the first time inadolescence or adult life. Although there are many

papers describing Hirschsprung's disease presentingin childhood, there are few series of patientsdiagnosed after the age of 10 years, though firstdiagnosis in later years is well recognised.>'3Although most patients gave a history of severe

constipation, often needing repeated enemas sincebirth, in two patients symptoms were first noted inadolescence, and in one at the age of 40. Inchildhood there is a marked male predominance butin this series almost one third of the patients were

female.

The term idiopathic (non-Hirschsprung's)megacolon has been used in this paper to describe acondition in which the diameter of the rectumand/or colon demonstrated by barium enema isincreased'4 but there is no evidence of anaganglionic segment. Measurements of radiographsfrom 20 of the 65 patients included in this paper forwhom x-rays were available have shown that inevery case the diameter of the distal bowel felloutside the normal range7 confirming the radio-logist's opinion. The radiographs of the remaining45 patients have been regarded by the radiologists ascharacteristic of megacolon but were not availablefor measurement.The clinical analysis of the 65 patients with

idiopathic megacolon suggests that two subgroupscan be distinguished, one a group of patients whosesymptoms began in childhood and the other groupthose who developed symptoms after the age of 10years, often as adults. Among the former, faecalsoiling with rectal impaction of stool was almostuniversal, but among the latter it was rare. A furtherimportant difference was that medical treatment wassuccessful in the majority of patients with earlyonset of symptoms, whereas it was unsuccessful inthe majority of those with onset in later life forwhom surgical treatment was often needed. Thelimited anatomical data in six of the latter patientswhose colonic myenteric plexus was studied by thesilver staining technique15 16 showed an abnor-mality in every case. It is tempting to regard thosewith onset in childhood as the small proportion ofchildren with rectal inertia17 18 whose trouble didnot resolve before the age of 10, and those with lateronset as having an acquired disorder of themyenteric plexus.The distinction between Hirschsprung's disease

and idiopathic megacolon can be difficult. A patientwith a history of faecal soiling since childhood ismost likely to have idiopathic megacolon, yet soilingdoes occur in a few children with short segmentHirschsprung's disease13 and in this series occurredin two of 29 patients, in one after anal dilatation andin the other over the age of 70 years. Abdominalpain, distension and a palpable abdominal mass arecommon to both conditions. Hirschsprung's diseasecannot be excluded by absence of a narrow distalsegment on barium enema. 19 The recto-anal disten-sion reflex can rarely, as in this series, be reported aspresent in Hirschsprung's disease.2' 21 It has beensuggested that in such cases the balloon used todistend the rectum may also dilate the anal canal oron distension it may pull the anal pressure probeupwards into the rectum.22 Conversely, the reflexmay be absent in non-Hirschsprung's megacolonbecause distension of a balloon in a capacious

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540 Barnes, Lennard-Jones, Hawley, and Todd

rectum may not act as a sufficient stimulus, orbecause the internal sphincter is already fullyrelaxed because of rectal impaction with stool or hasbeen stretched by therapeutic manoeuvres such asmanual evacuation of the rectum. Whenever there isdoubt about the diagnosis, or the rectosphinctericreflex is absent, biopsy is essential.The treatment of Hirschsprung's disease is sur-

gical. It is noteworthy that only one of 29 patientswas treated by extended internal sphincterotomy,though this operation has been recommendedespecially for children with short segment disease.23Successful results were obtained both with theDuhamel procedure and with resection as a Soavesleeve coloanal anastomosis, though the former ispreferred. 10 24

Idiopathic megacolon may respond to eithermedical or surgical treatment. The majority ofpatients with onset of symptoms in childhood weremanaged successfully with medical measures. Itmust be emphasised that such patients tended toredevelop rectal impaction if laxatives were stoppedand thus such patients must be advised to continuelaxatives indefinitely. Unfortunately some patientsare advised to stop treatment by their doctors whodo not understand the nature of their problem. Ifrectal impaction reoccurs it can be difficult for thepatient to empty the rectum even with enemas orwashouts and manual removal of faeces from therectum may be needed. In this group of patientswith childhood onset, it is those patients who cannotcomply with long term medical treatment who tendto need surgical treatment.

Patients who develop megacolon in adult life donot always suffer from constipation. Some complainmainly of abdominal pain and swelling with anirregular bowel habit, and sometimes episodes ofdiarrhoea. Among those who develop symptomsassociated with a megacolon in adult life medicaltreatment is often unsatisfactory. The patients aregreatly troubled by abdominal pain and distension,and laxatives for the treatment of constipation maybe ineffective or produce uncontrollable diarrhoea.The majority of such patients in this series wereoffered surgical treatment for this reason. Theresults were variable but about two-thirds werehelped by colectomy and ileorectal or caecorectalanastomosis.The distinction between idiopathic megacolon of

early and later onset suggested here on clinicalgrounds needs further investigation by physiologicaland anatomical methods. In particular, informationis needed about the thickness of the muscle wall25and the integrity of the myenteric plexus in patientswho develop symptoms for the first time at differentages.

References

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2 MacMahon RA, Moore CCM, Cussen LJ. Hirsch-sprung-like syndromes in patients with normal ganglioncells on suction rectal biopsy. J Pediatr Surg 1981; 16:835-9.

3 Nixon HH, Lake B. "Not Hirschsprung's disease" -rare conditions with some similarities. S Afr J Surg1982; 20: 97-104.

4 Emery JL. Colonic retention syndrome (megacolon)associated with immaturity of intestinal intramuralplexus. Proc R Soc Med 1973; 66: 222-3.

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6 Howard ER, Garrett JR, Kidd A. Constipation andcongenital disorders of the myenteric plexus. J R SocMed 1984; 77: suppl 3: 13-19.

7 Preston DM, Lennard-Jones JE, Thomas BM.Towards a radiologic definition of idiopathic mega-colon. Gastrointest Radiol 1985; 10: 167-9.

8 Jennings PJ. Megarectum and megacolon in adoles-cents and young adults: results of treatment at StMark's Hospital. Proc R Soc Med 1967; 60: 7-8.

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10 Todd IP. Adult Hirschsprung's disease. Br J Surg 1977;64: 311-12.

11 Orr JD, Scobie WG. Presentation and incidence ofHirschsprung's disease. Br Med J 1983; 287: 1671.

12 Rich AJ, Lennard TWJ, Wilsdon JB. Hirschsprung'sdisease as a cause of chronic constipation in the elderly.Br Med J 1983; 287: 1777-8.

13 Doig CM. Childhood constipation and late-presentingHirschsprung's disease. J R Soc Med 1984; 77: suppl 3:3-5.

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17 Callaghan RP, Nixon HH. Megarectum: physiologicalobservations. Arch Dis Childh 1964; 39: 153-7.

18 Nixon HH. Megarectum in the older child. Proc R SocMed 1967; 60: 3-6.

19 Patriquin H, Martelli H, Devroede G. Barium enemain chronic constipation: is it meaningful? Gastroenter-ology 1978; 75: 619-22.

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Hirschsprung's disease and idiopathic megacolon in adults and adolescents 541

analysis of anorectal pressures in Hirschsprung'sdisease. Dis Colon Rectum 1981; 24: 422-7.

22 Nagasaki A, Ikeda K, Suita S, Sumitomo K. Inductionof the rectoanal reflex by electric stimulation. DisColon Rectum 1984; 27: 598-601.

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