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Emad Guirguis

Hirschsprung's Disease: A Review

SUMMARY

Constipation is a common symptom in infants and young children who are seen by primary care physicians. If a patient fails to respond to the appropriate medical therapy for

constipation, then the physician should consider the possibility of Hirschsprung's

disease, a congenital disease in which ganglion cells are absent from the distal gastrointestinal tract, and which results in a functional colonic obstruction. Early diagnosis and prompt treatment of Hirschsprung's disease will result in a significantly improved quality of life for the patient, and may alleviate potentiallylife-threatening

complications. This artide describes a case of

Hirschsprung's disease and reviews the most

current literature on the topic. Cliniicalfeatures

that distinguish Hirschsprung's disease from

other causes of constipation are emphasized.

(Can Fam Physician 1986; 32:1521-1523.)

SOMMAIRE

La constipation est un symptome courant chez les bebes et les jeunes enfants auscult6s par des medecins de soins primaires. Si le patient constipe ne reagit pas au traitement medical approprie, le

medecin devrait alors considerer qu'il s'agit, peut-etre, de la maladie de Hirschsprung, maladie

congenitale caracterisee par l'absence de cellules ganglionnaires dans le systeme gastro-intestinal distal, qui entraine une obstruction des fonctions du

colon. Un premier diagnostic et un traitement rapide

contre cette maladie de Hirschsprung amelioreront considerablement la qualite de vie du patient et

peuvent diminuer les risques de complications,

parfois mortelles. Cet article derit un cas de la maladie de Hirschsprung et fait une analyse de la documentation la plus recente sur le sujet. On met

en valeur les caracteristiques cliniques permettant de

distinguer la maladie de Hirschsprung des autres

causes de constipation.

Key words: Hirschsprung's disease, constipation, colon

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Dr. Guirguis is a resident in the Family Medicine Program at McMaster University, Hamilton, Ont. Reprint requests to: First

Place Community Health Centre, 350 King St. E., Suite 106, Hamilton, Ont. L8N 3Y3.

AVE YOU EVER considered that an infant or child with in- tractable constipation may have

Hirschsprung's disease? Although the

disease is less common than other

causes of constipation, its early detec-

tion and treatment can relieve the

symptoms and reduce the incidence of

enterocolitis, a complication which bears a very high mortality rate.1

CAN. FAM. PHYSICIAN Vol. 32: JULY 1986

11111

I

IM

III'

This review presents a typical case of Hirschsprung's disease and dis- cusses the incidence, etiology, pathol-

ogy, clinical manifestations, diag- nosis, and treatment of the disease.

Case Report

B.H. is a breast-fed infant who pre- sented at four months of age with in-

creasing constipation. He was passing

small stools every three to four days with no attendant rectal bleeding. The infant's past health was unremarkable except for the fact that he had not passed meconium until 26 hours after his birth. On examination, the infant's bowel sounds were normal, his abdo-

men was soft and no masses were

palpable.

empty. Over the next several months, he was treated conservatively with in-

creased fluids, stool softeners, and

senna concentrate (Senokot) but his

symptoms did not improve. At nine

months of age he was referred to a pe-

diatric surgeon and was found to have

a markedly distended abdomen and

major impaction of stool extending

from the sigmoid colon to the anus. A barium enema revealed fecal impac- tion in the sigmoid colon and rectum,

as well as a short area of narrowing in the rectum. A rectal biopsy demon-

strated aganglionic and proliferated

nerves. Based on these findings, a

The rectal ampulla was

1521

diagnosis of Hirschsprung's disease

was made. At 11 months of age, the infant underwent a transverse colos- tomy with multiple intraoperative biopsies of the colon. The sigmoid colon was found to have sparse gan- glia, while the transverse colon was fully innervated with ganglion cells. At 16 months of age, a Soave en- dorectal pull-through was performed

on B.H., with no intra- or post-opera-

tive complications. Following sur-

gery, he experienced no problems

with constipation or diarrhea, and his

growth and development were subse- quently appropriate forhis age group.

Discussion

Incidence andprevalence The incidence of Hirschsprung's disease is approximately 1/4,500 in the newborn population. It is the most common cause of intestinal obstruc- tion in the full-term neonate and ac- counts for about 33% of all neonatal bowel obstructions.2 The disease is

relatively less common in the prema- ture infant, with necrotizing enteroco-

litis being the leading cause of intes- tinal obstruction in this population. The overall male:female ratio is 3:1. Associated anomolies are present in 14% of cases. These include Down's

syndrome (2.9%), cardiac anomolies (2.1%), inguinal hernias (0.7%),

malrotations (0.6%), and cleft lip and

palate (0.6%).1

In infants and young children who

present with intractable constipation, the prevalence of Hirschsprung's dis-

ease varies widely, and depends on

the population being studied. In

highly selected populations-for ex-

ample, those who failed to respond to

aggressive medical therapy, increased

fluid intake, and anal dilatation3-the prevalence of Hirschsprung's disease is as high as 9.4%, 10%, and

43%. 3-5 Molnar et al. ,6 however,

argued that these prevalence figures

are far higher than they should be be- cause they reflect the experience in highly selected populations. In their

small study, which focused on a much

less specialized setting, no cases of Hirschsprung's disease were found in

the 67 patients surveyed.6

Etiology

It is generally agreed that the basic

defect in Hirschsprung's disease is the

absence of cephalocaudal growth of the parasympathetic myenteric nerve

1522

cells into the rectum and lower colon

(or sometimes into the entire colon

and ileum).2 Another theory of the etiology of Hirschsprung's disease has been pro-

posed by Jarmas et al.7 They sug-

gested that the disease may, in some cases, result from degeneration of in- testinal ganglia after 16 weeks gesta-

tion, rather than from the absence of

ganglion cell growth. They formu-

lated their theory when they failed to find decreased amniotic fluid disac- charidase values at 15 weeks gestation in a fetus who was later found to have

Hirschsprung's disease. These disac-

charidase values have been found to

be decreased in other forms of intes-

tinal obstruction.8

Pathology

Hirschsprung's disease results from

the absence of ganglion cells in the

bowel wall, extending proximally from the anus for a variable distance. The aganglionic segment of bowel is

limited to the rectosigmoid in about 80% of patients. The incidence of

aganglionosis beyond the sigmoid

colon is about 20%. In 8.5% of cases, the entire colon, with or without small

bowel, is aganglionic.1

The incomplete parasympathetic in- nervation in the aganglionic segment of the bowel results in abnormal

peristalsis, constipation, and a func- tional intestinal obstruction. The in-

testine may become enormously di-

lated with a large quantity of retained feces and gas. Proximal to the transi- tion zone, muscular hypertrophy causes thickening of the intestinal wall.

Clinical manifestations

The symptoms of Hirschsprung's

disease vary widely in severity, but almost always appear shortly after

birth. The most common presenting symptoms are constipation (88.9%),

abdominal distention (88.9%), and failure to pass meconium in the first

24 hours of life (76.5%). In some cases, the presentation may be of par- tial or complete intestinal obstruction,

with vomiting (61.1%) being a promi-

nent symptom. Diarrhea (1 1. 1%) may occur in association with symptoms of intestinal obstruction. Failure to thrive

(16.7%)-with weight less than the

fifth percentile-is evident in infants who are diagnosed after they reach

two months of age.9

Episodes of constipation and diar-

rhea may alternate during the early

weeks of life. The diarrhea may pro- gress to a fulminant enterocolitis (22.2%),9 causing profound dehydra- tion, sepsis, and shock. There is no specific bacteria isolated. Enteroco- litis is the most dangerous complica-

tion of Hirschsprung's disease and has

a high mortality rate unless it is ener- getically treated.2

On physical examination of the pa-

tient, the most frequent findings are abdominal distention (83.3%), an empty rectal ampulla (81.2%), dehy-

dration (27.8%), and fecal impaction (27.8%), either rectally or abdomi-

nally.9

Differential diagnosis In the newborn infant, low intes- tinal obstruction may be due to rectal or colonic atresia, meconium plug

syndrome, or meconium ileus. An older child suffering from Hirschsprung's disease presents with

chronic constipation and abdominal distention. This condition must be

distinguished from acquired mega-

colon, which is more common. The history of a child with Hirschsprung's

disease reveals that he or she has had the symptoms from birth, seldom soils underclothing, usually passes

small-to-normal-size stools, and does

not have any rectal bleeding. With ac-

quired megacolon, the child usually

has problems with fecal soiling, passes very large stools, and may have a history of rectal bleeding. On

examination, the child with acquired

megacolon typically does not have ab- dominal distention and will have a rectal ampulla packed with stool.2

Diagnosis 1. Rectal biopsy A rectal biopsy administered by the

punch or suction method, which in-

cludes the submucosa, is the "gold

standard" diagnostic test for Hirsch- sprung's disease. 10, 11 Using cholines-

terase staining, aganglionic nerves and a proliferation of both sympa- thetic and parasympathetic nerves are

seen in the submucosa and myenteric

plexus. Alternatively, a direct mea-

surement of the acetylcholinesterase

activity in the rectal biopsy can be ob-

tained by quantitative biochemical-

assay. The enzyme activity is signifi-

cantly elevated in Hirschsprung's dis-

ease." Since the normal bowel has

CAN. FAM. PHYSICIAN Vol. 32: JULY 1986

only sporadic ganglion cells in the distal rectum and anal canal, the biopsy must be taken 2 cm above the

pectinate line to avoid a false positive

diagnosis.2

2. Barium enema

Using a barium enema, the most re- liable radiographic sign of Hirsch- sprung's disease is the presence of a

rectosigmoid transition zone (59% sensitivity)."2 This is a relatively nar- rowed aganglionic segment distal to a

dilated normal colon. The use of three combined radiographic features-rec- tosigmoid transition zone, retention of

barium 24 hours after the enema, and

stool mixed with barium-correlates significantly better with the presence or absence of Hirschsprung's disease than any one feature alone

(87.5%- 100% accuracy).12 In new-

born infants, there is less sensitivity

in detecting the transition zone, as

there may not have been time for the disparity in size to develop between the dilated proximal colon and the

empty distal aganglionic bowel.2

3. Anorectal manometry The internal anal sphincter provides most of the tone in the anal canal, and rectal distention causes reflex relax- ation of the sphincter. This is known

as the rectosphincteric reflex (RSR)

and can be induced by an anorectal manometer, an atraumatic technique, using a balloon device, which induces

rectal distention. The RSR is absent in patients with Hirschsprung's disease, but is present in patients with chronic

constipation of other etiologies.13

Studies of the diagnostic value of

anorectal manometry vary in their re- sults. In some studies, the RSR was

nondiagnostic in about 25% of new-

borns and in 8%- 16% of children

with Hirschsprung's disease or chronic constipation. 14- 16 More recent

studies using improved manometry recording techniques report no false

negatives or false positives using the techniques. 17, 18 Hence, according to

these latter studies, a normal RSR con-

fidently excludes Hirschsprung's dis-

ease and renders the barium and rectal biopsy unnecessary. 17' 18

enema

Diagnostic approach

A child suspected of having Hirschsprung's disease should un- dergo anorectal manometry and/or barium enema as the initial investiga-

CAN. FAM. PHYSICIAN Vol. 32: JULY 1986

tions, followed, if necessary, by a

rectal biopsy.

Treatment Once the diagnosis of Hirsch-

sprung's disease is unequivocally

established, surgery to bring the gan- glionic bowel down to the anus is in- dicated. In the neonate or sick infant, this extensive procedure is not well tolerated. Thus, a colostomy must be performed above the aganglionic seg-

ment to relieve the obstruction and permit a delay in the corrective proce- dure. Rapid-section microscopy is used to determine that ganglion cells are present at the colostomy site. The definitive operation is performed when the infant is six to 12 months of age. Older children generally do not require the preliminary colostomy, unless the dilated segment is so large that decompression is necessary to fa-

cilitate anastamosis.19

Prognosis

The results of surgery on patients with Hirschsprung's disease are gen-

erally satisfactory. Post-operative

continence is achieved in 91%-97.5% of cases.' The overall post-operative mortality is 1%-3%.l For the infant with enterocolitis, it is

as high as 50%.19

Analysis of patients' age at the time of diagnosis has shown that a delay in making the diagnosis leads to a higher

incidence of enterocolitis.1

Conclusion

Hirschsprung's disease is an un-

common cause of a common condi-

tion. Early detection of the disease will lead to a much improved quality of life and may avert potentially lethal

complications. In an infant or young

child with intractable constipation from birth, which is resistant to con- servative management, Hirsch-

which

needs to be considered and

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