Emad Guirguis

Hirschsprung's Disease: A Review

SUMMARY SOMMAIRE
Constipation is a common symptom in infants La constipation est un symptome courant chez les
and young children who are seen by primary bebes et les jeunes enfants auscult6s par des
medecins de soins primaires. Si le patient constipe
care physicians. If a patient fails to respond to ne reagit pas au traitement medical approprie, le
the appropriate medical therapy for medecin devrait alors considerer qu'il s'agit,
constipation, then the physician should peut-etre, de la maladie de Hirschsprung, maladie
consider the possibility of Hirschsprung's congenitale caracterisee par l'absence de cellules
disease, a congenital disease in which ganglionnaires dans le systeme gastro-intestinal
distal, qui entraine une obstruction des fonctions du
ganglion cells are absent from the distal colon. Un premier diagnostic et un traitement rapide
gastrointestinal tract, and which results in a contre cette maladie de Hirschsprung amelioreront
functional colonic obstruction. Early diagnosis considerablement la qualite de vie du patient et
and prompt treatment of Hirschsprung's peuvent diminuer les risques de complications,
disease will result in a significantly improved parfois mortelles. Cet article derit un cas de la
quality of life for the patient, and may maladie de Hirschsprung et fait une analyse de la
documentation la plus recente sur le sujet. On met
alleviate potentially life-threatening en valeur les caracteristiques cliniques permettant de
complications. This artide describes a case of distinguer la maladie de Hirschsprung des autres
Hirschsprung's disease and reviews the most causes de constipation.
current literature on the topic. Cliniical features
that distinguish Hirschsprung's disease from
other causes of constipation are emphasized.
(Can Fam Physician 1986; 32:1521-1523.)
Key words: Hirschsprung's disease, constipation, colon
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111 I IM I I'
Dr. Guirguis is a resident in the This review presents a typical case men was soft and no masses were
Family Medicine Program at of Hirschsprung's disease and dis- palpable. The rectal ampulla was
McMaster University, Hamilton, cusses the incidence, etiology, pathol- empty. Over the next several months,
Ont. Reprint requests to: First ogy, clinical manifestations, diag- he was treated conservatively with in-
Place Community Health Centre, nosis, and treatment of the disease. creased fluids, stool softeners, and
350 King St. E., Suite 106, senna concentrate (Senokot) but his
Hamilton, Ont. L8N 3Y3. symptoms did not improve. At nine
Case Report months of age he was referred to a pe-
AVE YOU EVER considered B.H. is a breast-fed infant who pre- diatric surgeon and was found to have
that an infant or child with in- sented at four months of age with in- a markedly distended abdomen and
tractable constipation may have creasing constipation. He was passing major impaction of stool extending
Hirschsprung's disease? Although the small stools every three to four days from the sigmoid colon to the anus. A
disease is less common than other with no attendant rectal bleeding. The barium enema revealed fecal impac-
causes of constipation, its early detec- infant's past health was unremarkable tion in the sigmoid colon and rectum,
tion and treatment can relieve the except for the fact that he had not as well as a short area of narrowing in
symptoms and reduce the incidence of passed meconium until 26 hours after the rectum. A rectal biopsy demon-
enterocolitis, a complication which his birth. On examination, the infant's strated aganglionic and proliferated
bears a very high mortality rate.1 bowel sounds were normal, his abdo- nerves. Based on these findings, a
CAN. FAM. PHYSICIAN Vol. 32: JULY 1986 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 for his age group.
Discussion
Incidence and prevalence
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 tions, followed, if necessary, by a tion and management of long standing
distal rectum and anal canal, the rectal biopsy. constipation in childhood. Arch Dis Child
biopsy must be taken 2 cm above the 1976; 51:918- 23.
pectinate line to avoid a false positive Treatment 4. Shaw A, Bosher P, Blair K. Anorectal
manometry for evaluating defecation dis-
diagnosis.2 Once the diagnosis of Hirsch- orders. Va Med 1980; 107:366- 70.
sprung's disease is unequivocally 5. Aaronson I, Nixon HH. A clinical eval-
2. Barium enema established, surgery to bring the gan- uation of anorectal pressure studies in the
Using a barium enema, the most re- glionic bowel down to the anus is in- diagnosis of Hirschsprung's disease. Gut
liable radiographic sign of Hirsch- dicated. In the neonate or sick infant, 1972; 13:138- 46.
sprung's disease is the presence of a this extensive procedure is not well 6. Molnar D, Taitz LS, Urwin OM, Wales
rectosigmoid transition zone (59% tolerated. Thus, a colostomy must be JKH. Anorectal manometry results in de-
sensitivity)."2 This is a relatively nar- performed above the aganglionic seg- fecating disorders. Arch Dis Child 1983;
58:257- 61.
rowed aganglionic segment distal to a ment to relieve the obstruction and
dilated normal colon. The use of three permit a delay in the corrective proce- 7. Jarmas AL, Weaver DD, Padilla LM,
Stecker E, Bender HA. Hirschsprung dis-
combined radiographic features-rec- dure. Rapid-section microscopy is ease: etiologic implications of unsuccess-
tosigmoid transition zone, retention of used to determine that ganglion cells ful prenatal diagnosis. Am J Med Gen
barium 24 hours after the enema, and are present at the colostomy site. The 1983; 16:613- 7.
stool mixed with barium-correlates definitive operation is performed 8. Morin PR, Potier M, Dallaire L,
significantly better with the presence when the infant is six to 12 months of Melanson SB, Milunsky A. Prenatal de-
or absence of Hirschsprung's disease age. Older children generally do not tection of intestinal obstruction: deficient
than any one feature alone require the preliminary colostomy, amniotic fluid disaccharidases in affected
fetuses. Clin Genet 1980; 18:217- 22.
(87.5%- 100% accuracy).12 In new- unless the dilated segment is so large
born infants, there is less sensitivity that decompression is necessary to fa- 9. Kosloske AM, Goldthorn JF. Early
in detecting the transition zone, as cilitate anastamosis.19 diagnosis and treatment of Hirschsprung's
disease in New Mexico. Surg Gynecol
there may not have been time for the Obstet 1984; 158:233- 7.
disparity in size to develop between Prognosis 10. Shandling B, Auldist AW. Punch
the dilated proximal colon and the The results of surgery on patients biopsy of the rectum for the diagnosis of
empty distal aganglionic bowel.2 with Hirschsprung's disease are gen- Hirschsprung's disease. J Pediatr Surg
erally satisfactory. Post-operative 1972; 7:546- 52.
3. Anorectal manometry continence is achieved in 11. Boston VE, Dale G, Riley KWA.
Diagnosis of Hirschsprung's disease by
The internal anal sphincter provides 91%-97.5% of cases.' The overall quantitative biochemical assay of acetyl-
most of the tone in the anal canal, and post-operative mortality is 1%-3%.l cholinesterase in rectal tissue. Lancet
rectal distention causes reflex relax- For the infant with enterocolitis, it is 1975; 2:951- 3.
ation of the sphincter. This is known as high as 50%.19 12. Rosenfield NS, Albow RC, Mar-
as the rectosphincteric reflex (RSR) Analysis of patients' age at the time kowitz RI, et al. Hirschsprung's disease:
and can be induced by an anorectal of diagnosis has shown that a delay in accuracy of the barium enema examina-
manometer, an atraumatic technique, making the diagnosis leads to a higher tion. Radiology 1984; 150:393-400.
using a balloon device, which induces incidence of enterocolitis.1 13. Callaghan RP, Nixon HH. Megarec-
rectal distention. The RSR is absent in tum. Physiological observations. Arch Dis
patients with Hirschsprung's disease, Conclusion Child 1964; 39:153- 7.
but is present in patients with chronic 14. Meunier P, Marechal JM, Mollard P.
Hirschsprung's disease is an un- Accuracy of the manometric diagnosis of
constipation of other etiologies.13 Hirschsprung's disease. J Pediatr Surg
Studies of the diagnostic value of common cause of a common condi- 1978; 13:411- 5.
anorectal manometry vary in their re- tion. Early detection of the disease
will lead to a much improved quality 15. McPartland FA, Olness K. Diagnostic
sults. In some studies, the RSR was uses of anorectal manometry in pediatrics.
nondiagnostic in about 25% of new- of life and may avert potentially lethal Minn Med 1979; 62:447- 50.
borns and in 8%- 16% of children complications. In an infant or young 16. Morikawa Y, Donahoe PK, Hendren
with Hirschsprung's disease or child with intractable constipation WH. Manometry and histochemistry in
chronic constipation. 14- 16 More recent from birth, which is resistant to con- the diagnosis of Hirschsprung's disease.
studies using improved manometry servative management, Hirsch- Pediatrics 1979; 63: 865-7 1.
recording techniques report no false sprung's disease is a diagnosis which 17. Loening-Baucke VA. Anorectal man-
negatives or false positives using the needs to be considered and excluded. ( ometry: experience with strain gauge pres-
sure transducers for the diagnosis of
techniques. 17, 18 Hence, according to Hirschsprung's disease. J Pediatr Surg
these latter studies, a normal RSR con- References 1983; 18:595- 600.
fidently excludes Hirschsprung's dis- 1. Ikeda K, Goto S. Diagnosis and treat- 18. Tamate S, Shiokawa C, Yamada C,
ease and renders the barium enema ment of Hirschsprung's disease in Japan. Takeuchi S, Nakahira M, Kadowaki H.
and rectal biopsy unnecessary. 17' 18 An analysis of 1628 patients. Ann Surg Manometric diagnosis of Hirschsprung's
1984; 199:4005. disease in the neonatal period. J Pediatr
Diagnostic approach 2. Shandling B. Congenital megacolon. Surg 1984; 19:285- 8.
In: Behram RE, Vauchan III VC, eds. 19. Leape LL, Holder TM. Hirsch-
A child suspected of having Nelson's textbook of pediatrics . 1 2th ed. sprung's disease. In: Sabiston DC, ed.
Hirschsprung's disease should un- Philadelphia: W. B. Saunders, Davis-Christopher's textbook of surgery.
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1523
CAN. FAM. PHYSICIAN Vol. 32: JULY 1986