Pseudo Hirschsprung's Disease *

MARK M. RAVITCH, M.D.

From the Departments of Surgery of The Baltimore City Hospitals, The Johns Hopkins Hospital,and The Johns Hopkins University School of Medicine

THE DEVELOPMENT of a successful sur-gical treatment for Hirschsprung's disease 11and the establishment of a sound pathologicand etiologic basis 3 for the disease havebeen among the most gratifying events inPediatric Surgery of the last decade. Theresult has been to render accurate diagno-sis possible with precision. At the sametime the knowledge that an effective sur-gical treatment is available has perhaps ledto rather more frequent early surgical con-sultation in children with obstinate con-stipation.

In true Hirschsprung's disease, as Hirsch-sprung 5 reported (in his original two cases,difficulty with defecation is noted frombirth), there may be delay in the first pas-sage of meconium. If a reliable history inthe obstetric nursery is available, disten-tion, constipation, and the necessity forenemas will be noted. regularly. The con-dition persists or progresses. The childrendevelop large protuberant abdomens. Thecostal margins flare. Fecal masses are regu-larly palpable in the abdomen. The phil-dren rarely have spontaneous stools andthen only hard seybali. Flatus is passed an-noyingly frequently, and in large amounts.A successful enema yields enormous quan-tities of stool followed for perhaps a dayor two by inadequate evacuations and thenobdurate constipation. Pain is not common.Distention may be so extreme, as in infants,to cause death from respiratory embarrass-

ment, with diaphragm so high that thediagnosis of eventration has been made.Repeated hospital admissions are requiredfor crises of constipation. With assiduoushome care and regular enemas such crisesmay be made infrequent but are rarely al-together eliminated. Incontinence does notoccur. At times ulceration of the distendedbowel-described and correctly interpretedby Hirschsprung as secondary to stasis anderosion by fecal masses-results in bloodydiarrhea in the face of continued,distentionand palpable abdominal fecal masses. Or-dinarily sphincter tone is normal, the rectalampulla is empty, and not remarkable. Theradiographic picture, clearly described byNeuhauser and Swenson,10 invariably dem-onstrates a normal sized or narrow rectalsegment, and a dilated proximal sigmoid ordescending colon. Hirschsprung, once more,plainly described at autopsy the normalsized or narrowed rectum, and the sharptransition to a huge sigmoid. If doubt re-mains as to the diagnosis, biopsy of therectal wall will show an absence of theganglion cells in the myenteric plexus.We have encountered four types of pa-

tients referred for treatment of megacolonin whom the difficulty lay elsewhere thanin the congenital absence of ganglion cellsof the myenteric plexuses of a segment ofthe rectum or of the colon and rectum.1) Pseudo Hirschsprung's disease on a psy-chogedc basis in otherwise organically nor-mal children. 2) Megacolon and obstinateconstipation in mentally defective children.3) Megacolon and obstinate constipationassociated with organic anal obstruction.

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* Presented before the Southern Surgical Asso-ciation, White Sulphur Springs, West Virginia,December 10-12, 1957.

Annals of SurgeryJune 1958

4) Megacolon and obstinate constipation incongenital cretins.Such confusion was perhaps inevitable

before the advent of the modern under-standing of Hirschsprung's disease and thegrotesque errors in the older experienceshould not be repeated today, certainlywith regard to groups 2 and 3. It remainsdistressing to see children of group 1 re-

ferred for consideration of operation-oftenwith long histories of travel from pediatri-cian to pediatrician without accurate diag-nosis and without the relief which is so

readily available for their distressing con-

dition. Group 4 represents a conditionrarely reported.

1. Pseudo Hirschsprung's Disease on a

Psychogenic Basis in OtherwiseNormal Children

This is far commoner than the organicdisease due to absence of the ganglion cellsof the myenteric plexus. It is fleetingly re-

ferred to in some discussions, well dis-cussed by Swenson,9 Stephens,3 and byLee,7 among surgeons, and by Garrardet al.4 and by Bell et al.2 among pediatri-cians. These patients are those still oftenclassified as having "idiopathic megacolon."Lee's attack on this term is classic. Discus-sions of the therapy of this condition are

rare. Lee has described an effective ifrather ritualistic treatment for these chil-dren, and a quite different, but apparentlyeffective regimen more psychiatrically ori-ented has been described by Bell andLevine. For the rest, the condition is eitherdescribed as "extremely difficult to cure" or

is totally neglected.The patients characteristically present at

ages of three to four years or thereafter.The history is usually clearly obtainable, ofconstipation beginning in the third or

fourth year, or later. A vague initial state-ment that the child has "always" been con-

stipated, will, on patient questioning con-

cerning the history of the neonatal period

and infancy, be found inaccurate. On one

occasion when the father who brought a

child in gave this history, a long distancecall to the mother brought a clear statementthat the child had no difficulty with defeca-tion during the first years. The pathog-nomonic giveaway-almost regularly occur-

ring, and frequently forming the presentingcomplaint jointly with constipation-is fecalincontinence. Fecal incontinence never oc-

curs in Hirschsprung's disease and its oc-

currence as a regular or recurring phe-nomenon eliminates the possibility of thatdiagnosis. In the group of children underdiscussion distention is moderate, as com-

pared to the situation in Hirschsprung'sdisease, or entirely absent. Flatus is notconspicuous. Fecal masses, quite as largeand hard as may be found in Hirschsprung'sdisease are also found in this condition.Abdominal pain is a common event. Theperi-anal region is often found smearedwith feces. The anus and sphincter are

normal, and the rectal ampulla is filled witha mass of feces, often filling the pelvis. Themost superficial questioning readily elicitsrich evidence of tension, hostility, neuroticdifficulties in parents and child. Oddlyenough, while the mother is usually mor-

tified by the encopresis, the child often ap-

pears to accept it calmly, matter-of-factly,without evidence of shame or agitation.This will obviously depend to some extentupon the degree to which the mother im-presses her reaction upon the child and thedegree to which the child has withdrawninto a shell. Quite often there is a sharphistory of extremely early habit training.Some of these children "fought the pot" andsuccessfully resisted such premature at-tempts. Others apparently surrenderedgracefully and tractably and their subse-quent relapse into repulsive delinquency isall the more harrowing and perplexing tothe obsessive mothers who took such pridein their earlier triumphs. Huschka,6 whohas been interested in the psychiatric as-

782 RAVITCH

PSEUDO HIRSCHSPRUNG'S DISEASE 783pects of this problem, states that the infantshows its awareness of the need to defecateby physical signs-grunting and wriggling-usually between the ages of eight and 15months. She estimates that "training" can

usually be completed by the ages of 18months to two years. In a study of 213 dis-turbed children, as might be expected, shefound a high incidence of coercive boweltraining and evident response by the childto it. As coercives she mentions prematureinstitution of training methods (infants can

actually be taught a sort of reflex conti-nence at two to three months), rigidity ofschedule, unduly frequent placement on

the toilet, employment of shame as punish-ment for failure, psychologic pressure byplacing a "high love premium" on success,

strapping the child to a seat until success

is achieved, use of suppositories for stimula-tion, forcing a child to "speak up" and an-

nounce his wants when he is just learningto talk, etc. Threats, bribes, punishmentare obvious coercive methods. The primaryproblem of the children in her study was

not constipation or encopresis, yet in a

group of 30 with adequate history of theuse of coercive methods in whom the reac-

tion could be reliably elicited, 21 had re-

sponded by constipation, loose stools, rage,incontinence, obsession with excessivecleanliness, etc. This type of response isnatural and understandable. The encopre-

sis may vary from regular overflow soilingof the clothes when the child is finally un-

able to restrain defecation, through regularand complete evacuation into the clothesat long intervals, to bizarre habits of defe-cation about the house. It has been notedthat many of these children defecate whenstanding-evidence perhaps of an unyield-ing wish to avoid defecation. It has beensaid 4 that the encopresis represents failureof inhibition of defecation. At times it hasseemed apparent to us and presumably tothe children at some level of consciousnessthat encopresis represented as effective a

weapon against authority as did constipa-

tion.Roentgenograms show a large redundant

atonic colon which may well mimic Hirsch-sprung's disease in regard to size and to

quantity of retained stool. Proper studieswill show the dilatation to involve the rec-

tum and reach the anal canal. The nar-

rowed segment of Hirschsprung's disease isnever seen. The diagnosis can be made on

history alone as demonstrated by the fol-lowing cases. In some cases the reason forfixing attention on the bowel are obvious,in others less so.

Case ReportCase 1. A 5k-year-old white boy with pro-

gressive constipation from the seventh month. Hehad had no difficulty up to that time, sat up at

5½6 months, walked at 12 months. Habit trainingwas begun at 51½ months and was said to be diffi-cult because the child would sit indefinitely. Hebegan to rebel against sitting on the toilet, crying,struggling, etc. The constipation was progressiveuntil he could go five to seven days without a stool.On the fifth or sixth day he might vomit. He rarelycomplained of pain. Abdominal distention was

never marked. Fecal impaction required manualdisimpaction about once in six months. No treat-ment had been given, the mother waiting until hehad a stool "and he usually does"-with manualassistance from her, if necessary. The child hadalways been hard to feed. A cardiac murmur was

discovered at the age of four weeks and led toproscription of much normal physical activity. Atthe time of examination the child was deliberatelyand repeatedly hysterical, screaming or complain-ing in rapid succession of hunger, abdominal pain,etc. He cried, jumped about, beat his face withhis hands, pulled at his mother. He could be madeto calm down by a show of quiet firmness andwith his mother out of the room was completelytractable. The abdomen was not protuberant,there was a fist sized freely movable fecal mass inthe right upper quadrant and several smaller, veryhard masses, throughout the abdomen. Rectal ex-

amination showed good sphincter tone and a

capacious ampulla filled with feces. Barium enema

showed a voluminous redundant colon whichevacuated poorly.

The mother was extremely obsessive. It was

obvious from her account that every minute of thechild's life had been planned and sharply ob-

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784 RAVIT

served, that perfection had been expected of himand absolute regularity of performance in allrespects.

The home situation seemed so difficult that thechild was admitted to the hospital. Enemas were

given twice daily for one week, productive eachtime of large amounts of soft brown stool. At theend of this week the enemas were stopped and thechild continued to have one or two large move-

ments per day, without any difficulty at all. Hestayed in the hospital for two more weeks, havingnormal and regular bowel movements.

In this instance an obsessive mothersmothered her child with care, perhapsbecause of his cardiac murmur, and prema-

ture attempts at bowel habit training fo-cussed the child's rebellion in that direction.

Obviously the relief obtained by therapywas no more than symptomatic relief. Thefundamental problem would probably re-

quire prolonged psychotherapy of themother. However, both the mother andchild were convinced that the child couldhave daily bowel movements without any

continued treatment.

Case 2. This 10-year-old boy was said to have

been habit trained with no difficulty, and neitherlate nor early. In 1955, a week after a poliomyelitisvaccine injection he complained of pain in the legand it was feared he had developed poliomyelitis.The following week he developed intractable "diar-rhea." He lost 17 pounds and was constantly in-continent, wearing rubber pants even during thedaytime and at times having 10 or more waterystools in 24 hours. After about a year the "diar-rhea" ceased, but, although the stools were thickand pasty, he remained incontinent. A series ofextensive medical studies were begun in anothercity and the barium enema showed a tremendouslydilated colon which was interpreted as Hirsch-sprung's disease. A biopsy of the rectal muscula-ture was undertaken and was reported as showingnormal "nerves." An enema regimen was begun 6weeks before we saw him. The boy fought theenemas violently and became intractably con-

stipated. At the same time his incontinence disap-peared. His constipation was so severe that when hewas first seen it was actually a week since his lastbowel movement. During all the time of his diar-rhea and incontinence and constipation he con-

tinued going to school. On examination, the ab-domen was distended and contained numerous

large fecal masses. Rectal examination showed a

CH Annals of SurgeryJune 1958

firm sphincter tone and an ampulla filled with agreat hard fecal mass down to the sphincter.

The history of incontinence, the fact that thebowel habit disturbance did not appear until hewas 8 years old, the presence of a fecal massdown to the sphincter, x-rays which showed a tre-mendously dilated colon down to the anal canal,pretty well eliminated the possibility of trueHirschsprung's disease. It seemed fairly obviousthat the difficulty started during a time when thefamily was intensely concemed that the boy hadacquired poliomyelitis from his injection of Salkvaccine.

The situation was presented in precisely theseterms to the family and the boy at the same time,they were told firmly that he did not have Hirsch-sprung's disease and that normal habit would berestored. He was placed on the therapeutic regimenwhich will be described below. In the course ofthe next 3 months he began to go for progressivelylonger periods, 6 days, 9 days, 19 days, withoutrequiring an enema, having daily stools in the in-terval. Incontinence had not retumed. It is inter-esting that the mother kept a defecation chart,although she had not been requested to, and thatshe was reluctant to part with the chart for inclu-sion with his hospital record until she could makea copy. He has now had a daily bowel movementfor over 3 months without an enema.

In this instance, without a psychiatric in-vestigation, no obvious factors are found toexplain why a sudden fear of poliomyelitisin the patient at the age of eight caused in-continence and constipation. The diagnosisof Hirschsprung's disease had been madeelsewhere but not confirmed by rectal bi-opsy. The mother was travelling about fordefinitive diagnosis and treatment. Re-sponse to treatment was prompt and satis-factory.

Case 3. This was a 62-year-old boy who hadbeen bom one of two premature fratemal twins.His twin was larger, more athletic, more aggres-sive. The patient was smaller, less well co-ordi-nated, had a marked squint and required glasses.The patient had been born with a thin membraneover his anus which was opened by a surgeon.Since childhood the patient had had trouble withdefecation and numerous remedies had been tried.Repeated x-rays had shown an enormous colon.The boy was able to go a week or more withouta stool. At times he had abdominal pain, andrarely he vomited. On the other hand he would attimes go as long as 2 or 3 months without missing

Volume 147 PSEUDO HIRSCHNumber 6

a day's defecation. His underclothing was fre-quently heavily soiled. Interestingly enough themother stated that on repeated occasions whenshe and the father were away travelling the childevacuated daily and on the other hand the diffi-culty with constipation was likely to be aggravatedat any time when his twin brother achieved somenew talent like swimming or riding a bicycle be-fore the patient did.

Examination showed an obviously bright littlefellow with thick lensed glasses. The abdomenwas full and filled with numerous loops of fecespacked bowel and several large hard fecal masses.Rectal examination showed an anus which ad-mitted the finger easily. The sphincter tone wasgood. Immediately within the sphincter there wasa great mass of moderately firm feces.

Review of the numerous barium enema ex-aminations which had been made over the pastseveral years in the attempt to diagnose or ex-clude Hirschsprung's disease, showed a greatlydilated colon, particularly the sigmoid, which wasvery large and never seen empty. There was nonarrow segment.

The family and the boy were told to-gether that with the proper managementthis condition could be entirely corrected.On the prescribed regimen he began hav-ing spontaneous stools almost at once, withoccasional brief periods of constipation,usually coinciding with deviations from theplanned program. By the end of a monthhe was having very little difficulty. He hadnever soiled since his first visit. It was ac-tually ten months before a perfectly normalbowel habit was firmly established. At theend of 14 months the family and boy weretold he was perfectly well, that his bowelcould be totally ignored just as would be afractured leg which had healed. He has hadno abnormality of bowel habit since.

In this instance the physically less for-tunate member of a pair of fraternal twinsreacted to difficulties by constipation andincontinence. The presence at birth of ananal membrane and the family's subsequentpreoccupation with the possible significanceof this anomaly amply explains the formin which the patient expressed his reactions.

ISP:

Case 4. This boy was first seen at the age of9 years. Recommendation for operation having

RUNG'S DISEASE 785

been made at another hospital, he was referredto the dispensary by the Salvation Army, this beingthe only record of an abnormal or difficult familybackground. It was noted "he does not controlmovements of his bowels, soils himself in hisclothes. Doesn't seem to realize when he has togo to the toilet, this has happened every daysince day of birth. He has a good movementevery day without cathartics. Very active child.Plays and runs around with complete control ofhis hands, legs and other parts of his body, in-cluding bladder."

Examination disclosed a moderately prominentabdomen distended with gas and tympanitic.There was a lower midline mass about 6 cm. indiameter quite hard and movable. It was felt thathe had Hirschsprung's disease and the bariumenema demonstrated that the colon was large anddilated and was interpreted as compatible withthe diagnosis of Hirschsprung's disease. On aregimen of mineral oil retention enemas he grad-ually improved, his abdomen became flat, and hisincontinence disappeared. The treatment was soeffective that within 2 months his bowel habit wasessentially normal and the comment was made inthe chart "apparently not bothered particularly bythe megacolon."

Despite the classical history of psycho-genic constipation and incontinence it wasapparently assumed that this was Hirsch-sprung's disease which had been well man-aged by enemas.

Interestingly enough we sent for this boysome ten years after his first visit, at whichtime he stated that his bowel habit wasperfectly normal and had been for as longas he could remember. He was a neat,quite attractive boy of 19, tall and slender,with flat abdomen.

It is interesting that there is no note inthe history as to when his constipation be-gan nor any as to when bowel training wasfirst attempted. Inasmuch as the motherreported on the first visit that the child hadhad no control of his bowels "from the dayof birth," it is quite possible that trainingwas begun very early.

Case 5. White female-10 years old. Chief com-plaint-"chronic constipation of one year. Refuseseven to try to defecate." Normal development.Normal intelligence. At the age of 9 the child be-came chronically and severely constipated; this

786

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RAVITCH Annals of SurgeryJune 1958

B

FIG. 1. Hirschsprung's disease in a four-year-old girl with symptoms dating from birth andrelieved by operation. A. (Left) Typical barium enema of true Hirschsprung's disease. Notethe sharp transition from a normal sized rectum to a huge sigmoid and descending colon.B. (Right) Pseudo Hirschsprung's disease in a boy of eight with severe constipation, incon-tinence and "marked nervousness' developing some time in childhood. Note the dflatation of therectum down to the anus. The onset well after the neonatal period, usually three to four yearslater, and the history of incontinence eliminate the possibility of Hirschsprung's disease, andthe absence in the barium enema of a narrow distal segment is further evidence.

progressed until, finally, cathartics and supposi-tories became ineffectual. When first seen she hadnot had a bowel movement for 5 days. Her ap-petite had been good, there had been no vomiting.She had not complained of pain. The stools whenpassed were thought to be normal. The abdomenwas moderately full over the descending colon,sphincter tone was good, the admission of thefinger into the rectum was barred by a hard fecalmass which filled the ampulla. On the next visitthe child had not had a stool for 11 days andstated that she never used school toilets because"the doors are open, there is no paper, and theseats are dirty." There was palpable a large fecalmass in the abdomen, and again rectal sphinctertone was good and there were several large, hard,fecal masses in the rectum. She was admitted tothe hospital for study and it was now noted thatshe was an only child, and, according to themother, got everything she wanted. She had al-ways defecated regularly until a year before shewas seen. She had stated before being admittedto the hospital that it was not necessary for herto go, that admission was not necessary-"I can

train myself." Volume of stool when passed waslikely to be enormous. No note is recorded in thehistory as to when habit training was begun athome or as to how it was accomplished. On thewards she had no stool for 6 days following whichshe was given an enema, evacuated well, andthereafter had one or more bowel movementsdaily.

The patient was followed for a year dur-ing which there was never any trouble withevacuation. It is interesting that in spite ofa voluminous psychiatric history there is noinformation as to when bowel training wasbegun or the methods by which it was pur-sued. There is the vague suggestion thatconstipation began abruptly after a school-girl discussion of sexual matters. In this in-telligent child, constipation was abandonedas soon as she was hospitalized.

Case 6. This was a 12-year-old female-familyhistory unknown. The child lived with her 15-year-

PSEUDO HIRSCHSPRUNG'S DISEASE 787

B

FIG. 2. Girl of nine admitted to the hospital with obstinate constipation since early child-hood and two episodes of urinary retention. A. (Left) Plain film showing huge feces filled loop.B. (Right) Barium enema showing voluminous redundant, greatly dilated colon and rectumdown to anus. Child was placed on regimen of daily enemas and within a short period of timewas having a spontaneous daily evacuation.

old sister and an aunt. She had been constipated"most of her life," and was admitted to the hos-pital at the age of 8 for fecal impaction. She hadan episode of urinary retention at the age of 8requiring catheterization and another, 2 weeks be-fore the present admission, when she failed tourinate for 36 hours, and 1,000 cc. of urine was

withdrawn by catheter.Examination repeatedly showed large fecal

masses in the abdomen, a normal sphincter toneand a rectum filled with a mass "the size of a

grapefruit."Figure 2B shows an original barium enema

before a regimen of daily enemas and nightly oilretention enemas. After two weeks of this regimenFigures 2C and D show an entirely normal lookingcolon which obviously contracts very well. She was

followed for a year after and had one or twospontaneous bowel movements every day.

The ludicrous ease with which the entiresituation can be elucidated, or at least itsnature clearly indicated, is apparent in thefollowing instance.

Case 7. The patient was a 7-year-old white girlwho was referred from another large metropolitancity for operation for Hirschsprung's disease. Shewas brought in by her mother who very rapidlyand with practically no prompting told the follow-ing story. The patient was an only child and themother had started training her to stool beforeshe was 6 months old. The child very promptlyresponded and was completely habit trained andclean within a few months. Ever since she hadbeen 4 years old, however, she had become in-creasingly constipated and at the same time hadsoiled her clothing. She would go days without a

stool and then would run outside the house andevacuate in her clothing. The only way in whichthe child would defecate on demand would be ifthe mother would move the kithen table into themiddle of the kitchen and spread a newspaper

upon the floor, whereupon the child would defe-cate on the paper. The mother stated that shehad tried every form of threat, persuasion andpunishment without avail. The mother stated thatthe child was very fond of the mother's sister andloved to visit her at her farm home. When the con-

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D

FIG. 2C. (Left) Baruim enema three weeks after B shows much less dilatation of colon, andD. (Right) In the evacuation film, the bowel is seen to empty completely. The child had nofurther difficulty with evacuation.

stipation and the soiling began the aunt told thechild that if she wished to continue her visits tothe farm she would have to behave naturally. Themother volunteered that she couldn't understandwhy the child had normal stools when she wasat the farm.

Examination showed a slender child with aslightly distended abdomen in which were easilypalpable large fecal masses. The peri-anal regionwas smeared with feces, the sphincter tone wasnormal, the rectum was distended with greatmasses of putty-like feces.The mother was told that no operation was

required, that the child's bowel habit could becorrected and a regimen was prescribed. Themother failed to keep further appointments.

Without prompting, this mother told astory of premature and coercive training, ofincontinence as well as constipation, and offreedom from difficulty away from home, aclassical account of psychogenic pseudo--Hirschsprung's disease.

It will be seen from these case histories,which are typical of the wide variation inthe group, that it takes more than poortraining methods to produce a reaction ofthis type in a child. A number of the chil-dren come from broken homes, and otherscome from homes in which there is severetension. The poor training methods appear,if anything, to be no more than symptomaticof the maladjusted parental personality, andit is, therefore, not surprising that a numberof these children show substantial devia-tions from standard behavior in other re-spects than bowel habit. It can hardly bedisputed therefore that proper treatmentof these children would require extensivepsychiatric work with both parents andchildren. Of first importance, however, isthe necessity for immediate recognition ofthe diagnosis, and the separation of this

PSEUDO HIRSCHSPRUNG'S DISEASE

condition from true Hirschsprung's disease.The sooner and the more firmly such a dis-tinction is made and the fact impressedupon parents and patients that operationis out of consideration, the sooner re-

habilitation can start.The psychiatrists take the attitude that

the constipation and incontinence are

merely symptoms which not only can beignored, but should be ignored, in ordernot to focus further attention on the anus

and the act of defecation.Undoubtedly excellent results can be ob-

tained purely by psychiatric treatment ofthe patient and family. On the other hand,where several years of intensive familyconcern have been concentrated on the actof defecation it is unlikely that a few weeksor months of further attention in the formof treatment such as we prescribe, will alterthe picture in any harmful way. Further-more the symptom itself is an extremelyannoying and disturbing one always to theparents, and sometimes to the patients. Di-rect relief of the symptoms may very wellfacilitate the problem of psychiatric han-dling of the patient and family.Most of the children we see are five or

six years old or older, although symptomshave usually been recognized from the ageof three or four, or occasionally a littleearlier. This permits us to talk with thechildren as well as with the parents. Wemake a point of speaking to patient andparent jointly and explicitly and do nothave additional side conversations witheither. They are told that this is a matterof habit training, that it can be correctedby proper training, and that there is no or-

ganic abnormality of the bowel and thatoperation will not be considered at all.

They are told that a precise regimen willbe prescribed, that deviation from it willnot be tolerated and that responsibility forthe regimen is taken entirely out of thehands of the parent who has no discretionin following the orders of the physician.This, in itself, is extremely important, since

once the child understands that the parentis merely a passive agent of the physician hefinds less profit in thwarting the parent. Atthe same time, once the parent knows, andis aware that the child knows, that primaryresponsibility has been shifted from theparent to the physician, the parent is in a

position to follow instructions without re-

sponding to pressure from the patient, andwithout feeling that there has been any

surrender to the patient.In a few instances where the home

situation is extremely disturbed, or wherepatients come from a distance so that thechild cannot be followed, or when parentsare so loath to believe that the condition isnon-organic and does not require an opera-

tion, that it is feared they will not be ca-

pable of cooperating with the prescribedregimen, it is necessary to admit the chil-dren to the Hospital. Hospitalization aloneis frequently all that is required tostraighten out the bowel habit of such chil-dren, at least for the period of hospitaliza-tion, and one frequently obtains in the his-tory accounts of symptom-free periodswhen the parents are away from home orwhen the children are visiting relatives.The principal virtue of hospitalization liessolely in the fact that the mother can beconvinced that the child can achieve nor-

mal bowel habits and that the child can

be convinced that the physician knows this.In most cases successful treatment can

be carried on an out-patient basis, withsubstantial success within a period varyingfrom two or three weeks to two or threemonths. As many large tap water enemas

are given initially, as are required to emptythe colon completely of the inspissatedfecal masses. After consultation with theparent and discussion of the whole situa-tion, a decision is made as to the most con-

venient time in the family schedule for thechild's daily bowel movement. Usually thiswill be immediately after breakfast. Oc-casionally circumstances will suggest thatit will be more convenient immediately

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Annals of SurgeryJune 1958

after the evening meal. Parent and childare instructed that for the first two weeksdaily at the appointed time and withoutany preliminary discussion and withoutthreats, bribes, or rewards or postponement,a one quart enema of warm tap water isto be given. This is to be given whetherthe child has spontaneous bowel move-

ments in the interim or not. At the end oftwo weeks the child and mother are seen

again. If the regimen has not been strictlyadhered to they are instructed to do so andto return in a week. Once the parent andchild are convinced that there is no re-

course but to follow instructions implicitly,improvement will follow readily. For thenext two weeks the child goes to the toiletseat at precisely the same time that theenemas have been given. He and his motherare instructed that at the end of ten minutesthe mother will inspect the toilet bowl.If there is a large and copious stool no more

need be done. If there is no stool, or onlya small one, a one quart warm tap waterenema is given at once. Again this is with-out discussion of any sort, but entirely auto-matic and it is made plain that no delaysfor further efforts are to be considered.Usually within two to four weeks the childwill be found to be evacuating daily with-out an enema. Once this pattern is estab-lished, both parent and child are stronglyencouraged and the occasional lapses are

found to be farther and farther spaced.Once regularity is apparently firmlyachieved, mother and child are instructedto forget all about the problems of defeca-tion on the basis that the child has a nor-

mal bowel, now has a normal bowel habit,and needs no more attention to his defeca-tion than does anyone else.

It is perfectly true that there is no validreason for requiring everyone to have a

bowel movement every day. On the otherhand the above method has proved to be a

simple and effective method of treatment.No drugs of any kind are employed. Ifhabitual constipation is too long neglected

there may finally emerge a habit of chronicconstipation which is not correctable andrequires a lifetime of enemas and cathartics.

2. Megacolon and Obstinate Constipationin Mentally Defective Children

There is certainly no reason to suppose

that there will not be an occasional childwith Hirschsprung's disease who also hasan organic cerebral defect. On the otherhand, this will manifestly be a great rarity,while more commonly chronic constipation,occasionally with encopresis, will be prom-

inent in mental defectives. Among suchcases which we have in our records are a

four and one half year old child with agene-

sis of the right cerebral hemisphere, andanother who was a microcephalic.

Case 1. This child was admitted to the hospitalat the age of 41 years because of large, infre-quent bowel movements. The question of Hirsch-sprung's disease had been raised. There was a his-tory of normal development up to the age of 6months when he experienced a convulsive episodeafter which there had been no mental develop-ment. He had continued to have repeated convul-sions and, at the age of 6 months, a craniotomywas performed and marked atrophy of the rightcerebral hemisphere was found. He had been con-

stipated since birth and always required auxiliarymeasures to produce even an infrequent bowelmovement which usually proved to be remarkablylarge. In addition to the neurologic findings, it wasnoted that the abdomen was distended and thatthe colon could be outlined filled with semi-hardfecal material. Sphincter tone was normal. Therectum was filled with a huge mass of putty-softfeces. The diagnosis of mental retardation was

obvious. Barium enema showed a greatly dilatedcolon with a redundant sigmoid. It was felt thatthis was an acquired megacolon, secondary toconstipation.

Case 2. This girl was first noted to be con-

stipated when she was 2 years old. When she was

3 years old she was seen with a greatly distendedabdomen, had not had a bowel movement in 2weeks, and had been markedly distended for a

month. She was an undernourished child, obviouslymicrocephalic and had a huge tensely distendedabdomen requiring a gastric tube as well as re-

peated enemas. She was noted to be an air swal-lower and x-rays showed an enormous colon. It is

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PSEUDO HIRSCHSPRUNG'S DISEASE

interesting that this patient seen in 1925 wasbrought into the hospital to be shown in Dr. JohnHowland's clinic as an example of Hirschsprung'sdisease. On the day the child was brought in shewas not markedly distended-the condition wasthought not to be striking enough for the childto be shown on that day.

The therapeutic problem in children suchas this resolves itself into one of enemas

given daily with absolute regularity. Theseserve the purposes of emptying the colon,avoiding retention of feces and avoiding thenuisance of encopresis on the one hand,and of ultimately being likely to establishthe kind of automatic bowel training whichcan be obtained even with abdominalcolostomies.

3. Megacolon and Obstinate ConstipationAssociated with Organic Anal

Obstruction

One would suppose that in the presence

of a straightforward history of an imper-forate anus with surgical repair at birth,later constipation and incontinence wouldbe attributed to this condition and to theoperation and not to Hirschsprung's dis-ease. The fact is that even though verygood continence is achieved with success-

ful repair of an imperforate anus, it is notalways easy to establish a good bowelhabit. Whether this is due to psychologicreasons, with heavy concentration on theabnormal area by the anxious family, (asdemonstrated in Case 3 under psychogenicconstipation, above), whether it is due toorganic stricture, as it surely is in some

cases, or whether it is due, as Swensonpostulates, to the fact that the bowel, whichis brought down to the anus, is not nor-

mally innervated, the fact remains thatregular bowel habit is frequently difficultto establish. We were astonished to find, innot extremely old records, five cases of im-perforate anus with surgical correction sub-sequently seen at the hospital for "mega-colon." These patients came to the hospital

FIG. 3. This child had an imperforate anus re-paired when she was one day old. She returned ayear later with severe constipation and great ab-dominal distention with the story that she hadhard stools about every third day. She was ema-ciated, dehydrated and enormnously distended. Thecolon was filled with hard, round fecal masses.Rectal examination showed a tight stricture en-tirely at the mucocutaneous junction. Note thegreat dilatation of the rectum and sigmoid, downto the anus. Regularity of bowel habit may be dif-ficult to establish after repair of an imperforateanus but the condition is readily separable fromHirschsprung's disease and there are no reports ofthe two diseases existing in conjunction.

complaining of constipation, distention, en-

copresis and fecal impactions due to failureto prevent stricture formation (Fig. 3). Itis embarrassing to report that one of thesepatients had actually had a sympathectomyfor putative Hirschsprung's disease (thiswas before 1948) and that another was ad-vised to have a sympathectomy. This pa-tient refused, and at another hospital aplastic operation upon his anus was entirelysuccessful. A letter from him many years

later reports that he is normal, married,has a perfectly normal bowel habit, despite

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Annals of SurgeryJune 1958

the fact that his colon had been perfectly.enormous.

4. Megacolon and Pseudo-Hirschsprung'sDisease in Congenital Cretins

Intestinal disturbances in association withmyxedema are well known and constipa-tion is the commonest. Abdominal disten-tion and functional megacolon and dolicho-colon have been described, with great dila-tation of the entire intestine and even ofthe stomach. These changes respond totreatment with thyroid extract and are re-

versible if treatment is not too long delayed.In newborns and infants in whom the

diagnosis of cretinism may not be readilyapparent, abdominal distention and obstipa-tion may be the presenting symptoms. Theclinical picture may strongly resemble thatof Hirschsprung's disease and in the case

reported by Salmi and Lakesmaa 8 was in-distinguishable from Hirschsprung's disease.

Case 1. This little girl of 41/2 years had beendiagnosed as having Hirschsprung's disease at an-

other hospital and was referred for treatment withthe additional note that her development was mod-erately retarded. She was said to have been bornwith a large abdomen, had had normal bowelmovements for about four to six weeks and thenbecame severely constipated, requiring laxativesand enemas constantly. Her abdominal girth hadbeen steadily increasing. She was noted to besmall, suggestively cretinoid, and mentally re-

tarded. The abdomen was filled with visible in-testinal patterns and palpable feces filled theloops. While there seemed to be no doubt thatshe had Hirschsprung's disease and the bariumenema showed a greatly dilated colon compatiblewith Hirschsprung's disease, hypo-thyroidism was

suggested in addition. Her blood cholesterol de-terminations were 273 mg. per cent and 244 mg.per cent. The diagnosis of cretinism was strength-ened by the radiologic demonstration of markedretardation of epiphyseal development. She was

placed on a variety of treatments for constipationand also given thyroid extract 1/4 to 1½ a grain a

day, rapidly raised to 2 grains daily. A year laterit was noted that she only needed 6 enemas in9 months, but that when the thyroid extract was

reduced, her constipation returned and that withthe dose increased again the symptoms receded.The barium enema was felt no longer to support

the diagnosis of Hirschsprung's disease, althoughthe bowel was still redundant and smooth. Sixteenmonths after she had been started on thyroid ex-

tract her bowels were well regulated on no othermedication at all, and the cathartics, which previ-ously had been required to produce stools, now

produced diarrhea if they were employed. Herblood cholesterol level was 127 mg.%.

In this instance of undoubted congenitalcretinism the distended abdomen and theconstipation and enlarged colon all stronglysuggested Hirschsprung's disease, the diag-nosis with which the child was referred,and were accepted as such in spite of theprobability that the child was a cretin. Itwas only after the dramatic response of theconstipation and the abdominal swelling tothyroid extract that it became obvious thatthese symptoms were entirely secondary tothe thyioid deficiency.

Case 2. This child was born in December 1903,and was first seen in September 1915, with thecomplaint that she had a large abdomen and hadhad obstinate constipation for a year. She was pale,with coarse, dry skin, short spade-like hands,showed retarded sexual development, and a brady-cardia of 70. The thyroid isthmus was palpable,but the lateral lobes were not. She had an ex-

tremely prominent abdomen and doughy masses

were felt in it. Two contrast enemas were per-

formed. The first reported dilated redundant colonconfined chiefly to the rectum and sigmoid, withspastic descending and transverse colon. The sec-

ond, 3 days later, was flatly reported by Dr.Baetjer as "Hirschsprung's disease." This child pre-

sented with obstinate constipation and abdominaldistention and her x-rays were accepted in that dayas showing Hirschsprung's disease. However, it ap-

pears to have been recognized that she was a

cretin. A note is recorded in the history that shewas seen by Dr. Halsted and was discharged on

two grains of thyroid twice daily. There is no fur-ther record of her course.

It seems fairly clear that this patient was,

in fact, a mild cretin, and it is fairly obviousfrom the record that for some time she was

considered to have Hirschsprung's diseaseand it was only some time later that thediagnosis of thyroid insufficiency was made.

The patient of Salmi and Lakesmaa 8 is of spe-

cial interest. This was a female infant who becameconstipated at the age of 3 weeks and was first

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Volume 147Number 6

PSEUDO HIRSCHSPRUNG'S DISEASE 793

A BFIG. 4. Megacolon in case of severe constipation in a congenital cretin. (From Salmi and

Laksmaa, Acta Pediatrica, 45: 1956). This child presented with stubborn constipation andsevere distention dating from the age of three weeks. A. (Left) Barium enema at six weeksshowing dilated sigmoid and a narrow rectal segment much like that seen in Hirschsprung'sdisease-actually narrower than most. The child was recognized to be a cretin when she wasthree months old. Thyroid hormone therapy was begun and three weeks later, B. (Right) Thebarium enema was essentially normal and the child was having regular spontaneous evacuations.

seen at the age of 4 weeks. A plain film showeddistended intestines. At 6 weeks there was greatdistention of the colon and the barium enema wastypical of Hirschsprung's disease (Fig. 4A). Atthis time there was suggestive physical evidenceof myxedema but a diagnosis of Hirschsprung's dis-ease was made and non-operative therapy pre-scribed. When she was 3 months old she was havingstools at three to four day intervals but now ap-peared typically myxedematous. Laboratory in-vestigations were equivocal, with a cholesterol of185 mg. per cent. On the basis of the clinical diag-nosis therapy with thyroid extract was begun. Thechild promptly lost its myxedematous appearance.In 3 weeks the barium enema was essentially nor-mal (Fig. 4B) and the bowel functioned regularly.Another barium enema a year later was normal.

In this case of congenital cretinism, con-stipation appeared at three weeks and the

barium enema looked like that of Hirsch-sprung's disease with a narrow segment.Thyroid therapy reversed the cretinoidchanges, restored normal evacuations, anda normal barium enema picture.

Obstinate constipation may also be asymptom secondary to hypo-thyroidism inadults.

Bacharach 1 cites the instance of an Army nurseof 35 who had been severely constipated for 3years, was finally referred to the surgical serviceof an Army Hospital for treatment of a megacolon.She had had a thyroidectomy for hypo-thyroidism8 years before, and five years after the thyroidec-tomy, noted the onset of progressive constipation,until finally no stools were produced without enemasand laxatives. She functioned well as a nurse onan active surgical ward although inclined to be

794 RAVITCH Annals of SurgeryJune 1958

somewhat lethargic and to prefer heated rooms.Her BMR was -32 and - 42, her PBI 2.5 mugrams per cent. Her barium enema showed re-dundancy and fullness of the colon. On X a grainof thyroid daily, rapidly increased to 6 grains daily,in 2 weeks she had her first spontaneous bowelmovement and thereafter required no more laxa-tives and was having a bowel movement daily onthyroid therapy alone. Her barium enema nowlooked perfectly normal. Her lethargy had dis-appeared.

Congenital cretinism is sufficiently un-common so that it is sometimes not readilythought of, particularly in children whopresent exaggerated manifestations of onesymptom-severe constipation.

Summary

Hirschsprung's disease may be mimickedin children with:

1. Psychogenic constipation-pseudoHirschsprung's disease. Unlike Hirsch-sprung's disease, symptoms do not appearat birth, encopresis is common, and thebarium enema shows no narrow distal seg-ment.

2. Mental retardation and cerebral de-fects.

3. Corrected imperforate anus-on thebasis of stenosis, imperfect innervation, orpoor habit training.

4. Cretinism-severe constipation and in-testinal dilatation may be the presentingsymptoms.

Treatment in these four groups is:

1. Open discussion with parent and child,assumption by the physician of full controlof the details of treatment, and relegationof parent to the role of the physician'sagent in following the prescribed regimen.

2. Regular enema regimen, in the lesssevere cases, one identical with that usedin Group 1.

3. Enema regimen much as in 2 anddilatation of strictures, or anoplasty. Where-as fairly rapid restoration of normal bowelhabit can be expected in Group 1, and per-sists, the basic defect in Groups 2 and 3may require indefinite continuance of treat-ment.

4. Thyroid hormone therapy relieves theconstipation of hypothyroidism and causesreversion of radiographic changes in thecolon and rectum.

Bibliography1. Bacharach, T., and J. R. Evans: Enlargement

of the Colon Secondary to Hypothyroidism.Ann. Int. Med., 47:121, 1957.

2. Bell, A. I. and M. I. Levine: The PsychologicAspects of Pediatric Practice. I. Causes andTreatment of Chronic Constipation. Pediat-rics, 14:259, 1954.

3. Bodian, M., F. D. Stephens and B. C. H.Ward: Hirschsprung's Disease and Idio-pathic Megacolon. Lancet, 1:6, 1949.

4. Garrard, Sterling D. and Julius B. Richmond:Psychogenic Megacolon Manifested by FecalSoiling. Pediatrics, 10:474, 1952.

5. Hirschsprung, H.: Stuhltragheit Neugeborenerin Folge von Dilatation und Hypertrophiedes Colons. Jahrb. Kinderh., 27:1, 1888.

6. Huschka, M.: The Child's Response to Coer-cive Bowel Training. Psychosomatic Med-icine, 4:301, 1942.

7. Lee, C. M. and K. C. Bebb: The Pathogenesisand Clinical Management of Megacolon withEmphasis on the Fallacy of the Term "Idio-pathic." Surgery, 37:762, 1955.

8. Salmi, T. and P. Lakesmaa: Pseudo-Hirsch-sprungsche Erkrankung bei einem Myxodem-Saugling. Acta Paed., 45:428, 1956.

9. Swenson, O.: Classification and Treatment ofChildren with Severe Chronic Constipation.Am. J. Surg., 86:497, 1953.

10. Swenson, O., E. B. D. Neuhauser and L. K.Pickett: New Concepts of Etiology, Diagno-sis and Treatment of Hirschsprung's Disease.Pediatrics, 4:201, 1949.

11. Swenson, 0. and A. H. Bill, Jr.: Resection ofRectum and Rectosigmoid with Preservationof the Sphincter for Benign Spastic LesionsProducing Megacolon, Surgery, 24:212, 1948.