SQU Med J, February 2011, Vol. 11, Iss. 1, pp. 138-145, Epub.

12th Feb 11
A B S TR A C TS

Hirschsprung’s Disease Scientific Update

Sultan Qaboos University Hospital
25th October 2010

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Introduction to the Update and to Hirschsprung’s Disease

Dr. Prakash Mandhan

H
Division of Paediatric Surgery, Department of Surgery, Sultan Qaboos University Hospital, Muscat, Oman
irschsprung disease (HSCR) is a specialists, who are involved in care of children, to
developmental disorder of the enteric highlight the necessity of early referral, diagnosis
nervous system, characterised by an and the management.
absence of ganglion cells in the distal colon resulting Currently, approximately 90% of patients with
in a functional obstruction.1 Although this condition HSCR are diagnosed in the newborn period.2
was described by Ruysch in 1691 and popularised by HSCR should be considered in any newborn, who
Hirschsprung in 1886, Swenson in 1949 described fails to pass meconium within 24–48 hours after
the first consistent definitive procedure for HSCR. birth, or in any child with a history of chronic
Early diagnosis of HSCR is important to prevent constipation since birth. Other symptoms include
failure to thrive, enetrocolitis, colonic perforation bowel obstruction with bilious vomiting, abdominal
and dilatation of distal gut, which not only affects distention, poor feeding, failure to thrive and poor
the type and number of surgical procedures, but weight gain as shown in Figure 1 below. The exact
also helps to prevent post-surgical morbidity. worldwide frequency of HSCR is unknown, but
Patients need to be monitored closely after surgery reported occurrence is approximately 1:1500–
for years after surgical treatment of HSCR. With 1:7000 newborns.3,4 HSCR occur more often in
early diagnosis and timely treatment, most children males; however, long-segment disease is common
with HSCR will not have long-term adverse effects
and can live normally.
Our observation has been that there is paucity
of the knowledge about HSCR in our region. This
observation has been based on the late referral of
children with chronic constipation from primary
health care teams to tertiary hospitals in Oman. The
diagnosis of HSCR has been a dilemma due to many
constraints. The management has been hampered
both by local beliefs and by inadequate community
and parental education about the impact of delaying
surgical treatment in these children. The result is
poor outcome with or without surgical intervention
and hence the cycle goes on. To address this
complex socio-medical issue, we organised this Figure 1: Hirschsprung’s disease patient with abdominal
educational session for general doctors, nurses and distension and visible bowel loops.
 Sultan Qaboos University Hospital
25th October 2010

Figure 2: Barium enema of Hirschsprung’s disease Figure 3: Suction rectal biopsy procedure for patients
patient showing narrow rectosigmoid with proximally with suspected Hirschsprung’s disease.
dilated bowel. The drawing is a demonstration of the
radiological findings.
also observed throughout the lamina propria and
muscularis propria.
in females. HSCR is uncommon in premature
Once the diagnosis is confirmed, the treatment
infants. Approximately 20% of infants will have
is to remove the poorly functioning aganglionic
one or more associated abnormalities involving
bowel [Figure 4] and to create an anastomosis
the neurological, cardiovascular, urological, or
to the distal rectum with the healthy innervated
gastrointestinal systems.5
bowel (with or without an initial diversion). A
Children may present with diarrhoea caused
number of definitive procedures have been used,
by enterocolitis, which is related to stasis and
all of which have demonstrated excellent results
bacterial overgrowth. This may progress to colonic
in experienced hands. The three most commonly
perforation, causing life-threatening sepsis.6 Plain
performed surgeries are the Swenson, Duhamel,
abdominal radiographs may show distended bowel
and Soave endorectal pull-through procedures.
loops with a paucity of air in the rectum. A barium
Recently, the transanal pull-through in which no
enema will demonstrate a narrowed distal colon
intra-abdominal dissection is performed has also
with proximal dilation, a classic finding of HSCR,
been popular.8,9 Another addition to the surgical
[Figure 2]. Another positive radiographic finding of
armamentarium is the laparoscopic approach to the
HSCR is the retention of barium for longer than 24
surgical treatment of HSCR,10 where the transition
hours after the barium enema has been performed.
Anorectal manometry, which detects the relaxation
reflex of the internal sphincter after distension of
the rectal lumen and this normal inhibitory reflex is
thought to be absent in patients with HSCR, is not
commonly used for HSCR due false positive results
and other limitations.7
The gold standard to diagnose HSCR is rectal
biopsy. The current practice is to perform a bedside
simple suction rectal biopsy in the newborn to
obtain tissue for histologic examination by a
special device [Figure 3]. On histology, both the
myenteric (Auerbach) plexus and the submucosal
(Meissner) plexus are absent from the muscular
layer of the bowel wall and hypertrophied nerve Figure 4: Operative findings in a Hirschsprung's disease
patient showing hugely dilated distal gut proximal to the
trunks enhanced with acetylcholinesterase stain are aganglionic segment of bowel.

Abstracts | 139
 Hirschsprung’s Disease Scientific Update

zone is first identified laparoscopically, and then References

the mobilised rectum is brought down through
1. Heanue TA, Pachnis V. Enteric nervous system development
the anus. Short-term outcomes for both, transanal and Hirschsprung's disease: advances in genetic and stem
and laparoscopic approaches have been similar to cell studies. Nat Rev Neurosci 2007; 8:466–79.
open single stage approaches with the benefits of 2. Vorobyov GI, Achkasov SI, Biryukov OM, Clinical features
minimal analgesia and shortened hospital stays.8,11,12 diagnostics and treatment of Hirschsprung's disease in
adults. Colorectal Dis 2009. Aug 5. Epub ahead of print.
Postoperatively, although patients may encounter
3. Meza-Valencia BE, de Lorimier AJ, Person DA.
one or more problems such as anastomotic leak, Hirschsprung disease in the U.S. associated Pacific Islands:
anastomotic stricture, intestinal obstruction, pelvic more common than expected. Hawaii Med J 2005; 64:96–8,
abscess, wound infection, chronic constipation, 100–1.

incontinence and enterocolitis, the long-term 4. Russell MB, Russell CA, Niebuhr E. An epidemiological
study of Hirschsprung's disease and additional anomalies.
follow-up studies have shown that greater than 90% Acta Paediatr 1994; 83:68–71.
of children experience significant improvement
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and will do relatively well.8,11,12 Patients with an Hirschsprung's disease: associated abnormalities and
associated syndrome have been found to have demography. J Pediatr Surg, 1992; 27:76–81.

poorer outcomes.13,14 6. Teitelbaum DH, Caniano DA, Qualman SJ, The

pathophysiology of Hirschsprung's-associated enterocolitis:
The future of children with HSCR is
importance of histologic correlates. J Pediatr Surg 1989;
looking promising. The possibility of stem cell 24:1271–7.
transplantation into the aganglionic gut and the 7. Pensabene L, Youssef NN, Griffiths JM, Di Lorenzo C.
reactivation of dormant stem cells in the gut Colonic manometry in children with defecatory disorders:
role in diagnosis and management. Am J Gastroenterol,
to regenerate the enteric nervous system are
2003; 98:1052–7.
being actively investigated.15 Experiments have
8. De la Torre L,Ortega A. Transanal versus open endorectal
demonstrated that neural crest stem cells (NCSC) pull-through for Hirschsprung's disease. J Pediatr Surg
are present, even in the adult gut, and are capable 2000; 35:1630–2.
of proliferation and differentiation. In addition, 9. Langer JC. Repeat pull-through surgery for complicated
researchers have been able to inject neural crest Hirschsprung's disease: indications, techniques, and
results. J Pediatr Surg 1999; 34:1136–41.
stem cells and later identify them in the native
10. Georgeson KE, Cohen RD, Hebra A, Jona JZ, Powell
rectum. Whether or not injected stem cells or DM, Rothenberg SS, et al. Primary laparoscopic-assisted
reactivated native progenitor cells will have the endorectal colon pull-through for Hirschsprung's disease: a
capability to recreate a functional enteric nervous new gold standard. Ann Surg 1999; 229:678–82; discussion
682–3.
system remains to be elucidated.
11. Langer J, Durrant AC, de la Torre L, Teitelbaum DH, Minkes
special concerns RK, Caty MG, et al. One-stage transanal Soave pullthrough
for Hirschsprung disease: a multicenter experience with
Total colonic aganglionosis is a more severe form 141 children. Ann Surg 2003; 238:569–83;discussion 583–5
of HSCR in which the entire colon and even some 12. Langer JC, Seifert M, Minkes RK. One-stage Soave pull-
of the small intestine is aganglionic. These children through for Hirschsprung's disease: a comparison of
the transanal and open approaches. J Pediatr Surg 2000;
have increased morbidity and mortality.16,17 35:820–2.
Ultrashort-segment HSCR is characterised by 13. Caniano DA, Teitelbaum DH, Qualman SJ. Management of
a few centimeters of aganglionic bowel in the Hirschsprung's disease in children with trisomy 21. Am J
rectum, adjacent to the anus. Recognizing this Surg 1990;159:402–4.

condition can be very difficult. These patients are 14. Hackam DJ, Reblock K, Barksdale EM, Redlinger R, Lynch
J, Gaines BA. The influence of Down's syndrome on the
not typically diagnosed until they are older and management and outcome of children with Hirschsprung's
most patients can be satisfactorily treated with a disease. J Pediatr Surg 2003; 38:946–9.
surgical myomectomy, which involves resecting a 15. Thapar N. New frontiers in the treatment of Hirschsprung
longitudinal strip of the posterior muscular wall of disease. J Pediatr Gastroenterol Nutr 2009; 48:S92–4.
the rectum. 16. Bickler SW, Harrison MW, Campbell TJ, Campbell JR.
Long-segment Hirschsprung's disease. Arch Surg 1992;
127:1047–50; discussion 1050–1.
17. Ikeda K, Goto S. Total colonic aganglionosis with or without
small bowel involvement: an analysis of 137 patients. J
Pediatr Surg 1986; 21:319–22.

140 | SQU Medical Journal, February 2011, Volume 11, Issue 1

 Sultan Qaboos University Hospital
25th October 2010

What is Hirschsprung Disease – A surgeon’s perspective

Dr. Madhvan Nayer
Department of Paediatric Surgery, Royal Hospital, Muscat, Oman

Hirschsprung’s disease (HSCR) is a common cause of intestinal obstruction that affects 1:1500 to 1:5000 live births. It is more common
in male children. It usually presents in the newborn period as intestinal obstruction or in older children as constipation and abdominal
distention. HSCR occurs due to the absence of ganglion cells in the muscle wall at muscle and submucosa levels, hence causing a failure
of relaxation of the circular muscle and internal sphincter, leading to functional constipation. It occurs in the rectosigmoid in 85% of
cases; however, HSCR may be more extensive and may extend into the entire colon (total colonic HSCR). The diagnosis of HSCR is
made by demonstration of absence of ganglion cells in the submucosa or in muscle layer of the intestine. A plain X-ray of the abdomen
will show a distended bowel with no gas shadows in the pelvis. When a barium enema is done, it will delineate a dilated proximal colon
and a very narrow “corkscrew” rectum. Rectal biopsy is performed after bowel decompression and the specimen is then subjected
to a histopathological examination by the usual staining technology (haematoxylin and eosin) or enzymehistochemistry methods
that demonstrate an abundance of acetyl cholinesterase (ACh) in the nerve bundles. Once diagnosis is confirmed, either a one-stage
procedure involving resection of the aganglionic bowel and restoring continuity or a multi-stage procedure (colostomy, pull-through
and reversal of stoma) is carried out. In patients who have failed to achieve good decompression of the proximal bowel or in whom there
is refractory enterocolitis, a preliminary diverting colostomy is mandatory. There are quite a few techniques to perform definitive (pull-
through) procedure in HSCR and the recent development is minimal invasive surgery. Irrespective of the type of surgery technique,
the outcome is promising and fairly good long term results are achieved in over 85% cases. Constipation and/or occasional soiling have
been noted in about 15% of children in the post-operative period. One of the most serious early complications is anastomotic leak and
intestinal obstruction and the most serious late complication is enterocolitis. Enterocolitis in HSCR can be serious and life threatening,
hence it is addressed very aggressively and has been seen more often in patients who have had enterocolitis prior to definitive treatment
or those in whom there has been persistent obstruction. It is possible to do re-surgery in patients who have had inadequate results or
in those whose colon becomes much dilated due to inadequate post-operative bowel management. The role of parents, patient and
community nurses in ensuring good regular evacuation cannot be overemphasised.

Medical Aspects of Hirschsprung’s Disease

Dr. Siham Al-Sinani
Departement of Child Health,Sultan Qaboos University Hospital, Muscat, Oman

This paper includes a brief introduction about the history of Hirschsprung disease (HSCR), as well as an introduction to its pathogenesis
and epidemiology as described in the literature. The typical clinical manifestation of HSCR might not be evident in all patients, which
poses major difficulties in diagnosing children with atypical features of HSCR and therefore delays its treatment. Criteria for the diagnosis
of HSCR in different age groups is discussed with proposal of an algorithm for patients with delayed passage of meconium according
to their accessibility to medical care and opportunities for close follow-up in the Omani health system. The different presentations of
HSCR are explained and studies of differences between children with idiopathic constipation and children with constipation secondary
to HSCR. These studies did not show major differences in the clinical features based only on constipation, once again making it even
more difficult to identifying HSCR based solely on clinical features without further investigations. The only exception is a child with
constipation with no other organic features, normal natal history, normal growth with normal physical examination and normal rectal
examination. To most pediatricians, this presentation is not commonly seen in Oman. Very few children with a history of constipation,
who are referred to us at the pediatric gastroenterology unit of Child Health Department at Sultan Qaboos University Hospital, have
this negative history and physical examination. Studies comparing diagnostic investigations commonly used for HSCR have revealed
significant differences in the sensitivity and specificity of such investigations. Suction rectal biopsy (SRB) and anorectal manometry
(ARM) (when the expertise is available) have the highest sensitivity and specificity. SRB and ARM are therefore preferred over contrast
studies if HSCR is to be ruled out with greater certainty. HSCR is not a disorder seen in children only. Different age groups (including
adults) can have HSCR, with interesting studies comparing the initial presentation, different pathogenesis and outcome in older
patients compared to children. Case reports describe adults with long standing constipation to have catastrophic complications with
enterocolitis and gut perforation found on postmortem examination. Adults with long standing constipation should be investigated for
HSCR. Hirschsprung's associated enterocolitis (HAEC) is a known major complication of HSCR. The discussion covers it definition,
pathogenesis, when to suspect it and how to diagnose and treat it as a pediatrician (and not a surgeon). Appropriate and timely medical
intervention avoids morbidity and mortality from HAEC.

Hirschsprung’s Disease and Syndromes

Dr. Adila Al-Kindy
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman

Hirschsprung’s disease (HSCR) is an important genetic cause of functional intestinal obstruction. About 20% of HSCR cases have
another congenital anomaly either isolated or part of a syndrome (mainly monogenic Mendelian inherited). HSCR is a congenital
malformation of the hindgut, a neurocristopathy, resulting from failure of migration of the neural crest cells that form the enteric nervous
system between 5–12 wks gestation. Neurocristopathies are a group of diverse disorders resulting from defective growth, differentiation,
and migration of the neural crest cells. Neural crest is a multipotent embryonic structure that gives rise to neuronal, endocrine and

Abstracts | 141
 Hirschsprung’s Disease Scientific Update

paraendocrine craniofacial, conotruncal heart and pigmentary tissues.Here we present a few examples of syndromic HSCR. HSCR
is frequently associated with syndromic neurocristopathy disorders such as Shah-Waardenburg syndromes (WS4), a clinically and
genetically heterogeneous disorder characterised by pigmentary anomalies of the hair, skin and iris and sensorineural deafness and a long
segment HSCR.WS4 is caused by homozygous mutations in EDNRB (AR) or heterozygous SOX10 mutations (AD). Another example of
a neurocristopathy disorder is Haddad syndrome - defined by an association of HSCR and congenital central hypoventilation syndrome
due to PHOX2B gene. Most cases are sporadic and few are dominantly inherited. Screening for other neurocristopathy tumours such
as neuroblastoma may be indicated. The syndromic HSCR, commonly associated with dysmorphism, is the Mowat-Wilson syndrome,
associated with HSCR in 60% of cases. These patients have a characteristic facial gestalt with multiple congenital anomalies and severe
mental retardation. It is caused by heterozygous de novo deletions encompassing the ZEB2 or truncating mutations. HSCR is also
frequently associated with a wide spectrum of additional isolated anomalies such as hypospadia, limb abnormalities, cardiac atrial septal
defect (ASD) and ventricular septal defect (VSD). All HSCR patients should be carefully evaluated for additional anomalies.

Embryological and Molecular Mechanisms of Hindgut and Enteric Nervous

System Development
Dr. Prakash Mandhan
Department of Surgery, Sultan Qaboos University Hospital, Muscat, Oman

Hirschsprung disease (HSCR) and anorectal malformations result from alterations in hindgut development. Progress in the
understanding of the genetic basis of HSCR and other anorectal malformations has been made by the application of the findings
from genetic and chemical animal models of altered hindgut and neuromuscular development. Several genes have been shown to be
important for the hindgut and enteric nervous system development and work is going on to identify genetic alterations and interactions
that may explain the variable phenotypes of HSCR and ARMs. We used ethylenethiourea (ETU) rat model in our lab to study the
embryological and molecular mechanisms of hindgut and enteric nervous system development. Our experiments have shown that the
downregulation of shh, BMP4 and hox genes in developing hindgut of ETU-exposed fetal rats. When the immunohistochemical studies
of the neurons and glia that comprise the enteric nervous system (ENS) (the intrinsic innervations of the gut) were performed, we found
that there was marked reduction in the immunoreactivity of NSE, VIP and SP in the hindgut of experimental foetuses as compared
with the controls. Our observations are that the expression of shh and its target genes in ETU-exposed fetal rats is downregulated and
intramural nerves, stained by VIP and SP-100 antisera, were decreased in various phenotypes of hindgut developmental derivatives.
The embryological and cellular mechanisms of hindgut development in ETU-exposed fetal rats will be presented as well as similar work
done in other laboratories.

Current Molecular Biological Understanding of Hirschsprung’s Disease

Dr. David Croaker
Department of Paediatric Surgery, Canberra Hospital, Australia

People have appreciated the hereditary contribution to Hirschsprung's (HSCR) disease at least since the 1960s. At about the same time,
the association with Down syndrome was noted. Since then, particularly in the last 20 years, a number of karyotype abnormalities have
been observed on a number of chromosomes. The observation of an interstitial deletion on chromosome 10 about 20 years ago was
an important clue to the identification of the first and most important gene responsible for Hirschsprung's disease-RET. At the same
time gene screening for mutations in this gene never identified more than a minority of patients with significant sequence changes in
the coding region. It became apparent that HSCR risk was determined by the sum of a number of risk alleles, as well as, more rarely,
by mutations of large effect in RET and also other genes, such as the endothelin B receptor gene. There are about a dozen relatively
important genes, and perhaps many dozens more less important genes, contributing to HSCR. Some of these genes are associated
with particular and recognisable phenotypes, such as the so-called Mowat-Wilson syndrome described by us. Other gene mutations
carry implications that are not necessarily immediately obvious: some mutations in Phox2b for instance carry a risk of neuroblastoma.
Particular mutations in RET are responsible for multiple endocrine neoplasia type 2 (MEN2) cancer syndromes. It is of interest that a
long-term follow-up in Scandinavia has picked up a higher rate of medullary thyroid cancer in adult survivors of Hirschsprung's disease.
Although I do not believe that gene therapy will even be possible in the majority of cases, gene screening for known multi-case families
is certainly possible, and may be useful, particularly as the cost of sequencing comes down. In particular, mutation screening would be
of some use if it detects that minority of patients who may be at risk for malignancy, or other as yet undiscovered late effects. We already
screen RET for several of the known MEN associated mutations in Hirschsprung's patients on occasion. At present, we are studying the
lethal spotting rat, a Hirschsprung's disease model with a mutation in the endothelin B receptor gene, and a phenotype like the Shah-
Waardenburg syndrome in humans. This animal suggests clues as to where our attention should be directed in further human studies
and follow-up.

Anorectal Manometry in Hirschsprung's Disease

Dr. Tawfiq Al-Lawati
Division of Gastroenterology, Department of Paediatrics, Royal Hospital, Muscat, Oman

Hirschsprung's Disease (HSCR) is a common intestinal anomaly that presents mainly in the neonatal age. The diagnosis may prove
difficult in patients with no classical symptoms. The gold standard of diagnosis remains rectal biopsy. Anorectal manometry (ARM)

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 Sultan Qaboos University Hospital
25th October 2010

relies on absence of recto-anal inhibitory reflex. The test is infrequently done due to the absence of standardised reference ranges and
high false negative rates. However, recent studies in neonates have shown reliable results. ARM is being further developed and might
have wider diagnostic use in the future. ARM has an important role in assessing postsurgical patients with HSCR to determine the
integrity of the anal sphincter. ARM has helped in planning the management of patients with both constipation and incontinence post
surgery.

Radiological Findings of Hirschsprung’s Disease

Dr. Dilip Sankhla
Department of Radiology & Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman

Radiology in HSCR is paramount as it helps the clinicians to make the diagnosis as well as to evaluate postoperative morbidity. This
presentation addresses the following. 1) Imaging Protocol: plain radiography; single-supine view; two views - frontal and left lateral
decubitus or upright or crosstable view; contrast enema; 2) Contrast media: water soluble contrast enema or barium enema; 3)
Preparation and technique; 4) Imaging findings: radiography - multiple dilated bowel loops and paucity of air in rectum; contrast enema-
recto-sigmoid ratio <1; presence of narrowed zone (transition zone); fasciculation or saw tooth appearance of mucosa of involved colon;
delayed emptying of contrast media from colon; thickened ulcerated colon if associated with enterocolitis; normal study in early weeks;
5) Classification criteria: short segment - 70–80% cases; long segment - 15–25% cases; total colonic - 1–4% cases; ultra short segment -
rare; 6) Differential diagnosis: meconium plug syndrome; meconium ileus; immature colon; ileal atresia; colonic atresia.

Pathological Findings in Hirschsprung’s Disease

Dr. Indira Praseeda Nair
Department of Pathology, Royal Hospital, Muscat, Oman

Hirschsprung’s Disease (HSCR) is a group of disorders characterised by a lack of propulsive peristalsis in the distal colon resulting from
an absence of ganglion cells in the wall (submucosal and myenteric). An increase in adrenergic and cholinergic nerves is associated in the
aganglionic segment. Colonic smooth muscle relaxation is also deficient due to the disturbed function of vasoactive intestinal polypeptide
and nitrous oxide mediated inhibitory nerves. The HSCR can be of short or long segment type, total bowel aganglionosis, ultra-short
segment HSCR and zonal aganglionosis. Diagnostic work up requires a full-thickness rectal biopsy specimen for haematoxylin and eosin
staining and various special stainings. Inadequate tissue samples and low rectal biopsy are major pitfalls for histopathology. Pathologic
diagnosis includes pre-operative and intra-operative biopsies. The presence of ganglion cells in rectal or colonic biopsy rules out the
possibility of HSCR. Multiple serial sections need to be examined before a definitive diagnosis of HSCR can be rendered. The special
stainings such as acetylecholinestrase staining, calretinin immunostaining and rapid intra-operative immunoperoxidase staining for
synaptophysin have been found to diagnose HSCR much faster and more accurately. In Hirschsprung associated enterocolitis (HAEC),
microscopic examination reveals cryptitis, crypt abscesses, mucosal necrosis and transmural necrotising inflammation and perforation.
The co-existence of neuronal intestinal dysplasia (NID) above the aganglionic segment of HSCR can complicate the interpretation of
intra-operative biopsies specimen for HSCR. The diagnosis of intestinal motility disorders remains a challenge for both clinicians and
pathologists.

Difficulties in Hirschsprung’s Disease Pathology

Dr. Ritu Lakhtakia
Department of Pathology, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman

Hirschsprung’s disease is characterised histopathologically by demonstrating aganglionosis in the Meissner (submucosal) and/or
Auerbach (myenteric) plexuses of the rectum, depending on whether the specimen is mucosal or full thickness. Equally important for
patient management is establishing the presence of ganglion cells in the proximal functional colonic segment at the anastomotic site
after surgical resection of the aganglionic segment. Factors that render histopathologic diagnosis difficult in both these settings include:
site (sampling: operator dependant) and type of biopsy (rectal suction vs. full thickness); type of histopathologic processing (frozen
vs. paraffin); nature of disease (classical vs. ultrashort segment vs. total colonic aganglionosis); abnormal appearance of ganglion cells
or poor development (neonates) and their look-alikes; availability and standardisation of adjunctive techniques (histochemistry and
immunohistochemistry); differential diagnosis like functional constipation, hypoganglionosis, intestinal neuronal dysplasia, pseudo-
HSCR and, lastly, familiarity with morphologic patterns (observer dependant). False positive and false negative diagnosis based on these
factors impact clinico-pathologic correlation thus affecting patient management.

Current Surgical Management of Hirschsprung’s Disease

Dr. Adel Ismail
Department of Paediatric Surgery, Hamad Medical Corporation, Doha, Qatar

Hirschpsrung’s disease is a common cause of intestinal obstruction in children and requires surgical intervention, where the surgeon
removes the aganglionic part of distal gut and restores the continuity. The surgical treatment of this condition has gone through various
stages of the development. Initial surgical management was multi-stage, where the surgeon would create a colostomy to relieve the

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 Hirschsprung’s Disease Scientific Update

obstruction, later resect the aganglionic bowel and do a pull-through procedure and finally the reversal of stoma. This traditional
approach has changed and progressed to an entirely transanal pull-through procedure, where the entire operation is performed without
laparotomy. This paper presents a brief review of the various surgical procedures used for the treatment of HSCR and the impact of the
transanal procedure on the management HSCR in various age groups.

Long term Outcome of Hirschprung’s Disease – Oman experience

Dr. M. Jaffer Sajwani and Dr. Lalith Wijesinghe
Department of Pediatric Surgery, Royal Hospital, Muscat, Oman

The surgical management of Hirshcsprung’s disease (HSCR) has progressed, over the last few decades, from a 2–3 staged procedure
to a primary operation. In the past decade, definitive surgery for the HSCR has been performed using minimally invasive techniques.
We have been operating on HSCR children for the last 25 years and here share our recent experience. In the period 2001–2009, we
operated on 85 children with HSCR and have been able to collect follow-up clinical data regarding functional outcomes for 79 children.
Follow-ups were divided into the type of pull-through, age at time of procedure and length of the last follow-up. Follow-up periods
ranged from 1 month to 8 years. We employed different operative procedures for HSCR: Duhamel in 50, Soave in 23, Swenson in 2 and
the transanal procedure in 10 children. Post-operative complications included enterocolitis (10%) and bowel obstruction secondary
to post-op adhesions (10%). There was no mortality. Post-operatively, constipation was observed more in children who underwent
the Duhamel procedure, when compared with other groups. Functional outcomes were not significantly different among the various
operative techniques.

Long term Outcome of Hirschsprung’s Disease – Dubai experience

Dr. A. R. Mustafawi
Department of Paediatric Surgery, Al-Wasal Hospital, Dubai, United Arab Emirates

Over the last hundred years, different surgical techniques have been used for definite correction of Hirschsprung’s disease (HSCR)
in multi-stage procedures. Now the transanal endorectal pull-through has become the standard surgical procedure fro HSCR. Since
March 2004, our protocol for HSCR is to proceed for single stage transanal pullthrough in the same anaesthesia session after rectal
biopsy frozen sections have proved HSCR positive. During the period 2004 to date, 68 patients have been diagnosed with HSCR and all
except 7 patients have been treated by single stage endorectal pull-through. We share our results and the follow-up of these patients. We
believe that our protocol for HSCR is a real single-stage transanal pull-through as it avoids two general anaesthesias, is cost-effective and
facilitates a shorter stay in hospital with no more colostomies and associated morbidities.

Long term Outcome of Hirschsprung’s Disease – Qatar experience

Dr. Adel Ismail
Department of Paediatric Surgery, Hamad Medical Corporation, Doha, Qatar

We have been managing children with Hirschsprunt’s disease (HSCR) in Qatar for many years and here I share our experience both
of the modes of presentation and the outcomes of children with HSCR in the last 10 years. We have reviewed our experience of the
different surgical techniques used for the care of these patients and draw attention to the impact of the transanal approach on the
management of this condition. During these 10 years, we had 39 children diagnosed with HSCR. Seven children were managed by
traditional 3-staged surgical procedure; three of them had total colonic aganglionsis. The remaining 32 children had one-stage pull-
through, either assisted by laparoscopy or mini-laparotomy or the entirely transanal approach. Postoperative complications included
enterocolitis (12.8%), stricture (7.6%), soiling (2.5%) and constipation (28%). The mean hospital stay was 12, 5 and 3 days for the staged
procedure, one stage assisted procedure and transanal procedures respectively. One child died.

Long term Outcome of Hirschsprung’s Disease – Canberra experience

Dr. David Croaker
Department of Paediatric Surgery, Canberra Hospital, Australia

Looked at over the last 40 years, we can see that survival from Hirschsprung's disease has improved from about 70% in the 1960s, to
close to 100% now. Not only has survival improved, but the mean age at diagnosis has also improved, and plateaued about 20 years
ago. I will discuss results first presented during my Ph.D. more than 10 years ago, then some results presented more recently after we
started regularly to use laparoscopic assisted transanal pull-throughs, and give a roundup of my impression of the literature of the last
few years. Generally speaking, functional results after pull-through are not quite as good as the older generation of surgeons liked to
believe. There is a substantial incidence of at least some degree of soiling and constipation. Survival, however, has improved and modern
laparoscopic surgery means that patients are subjected to much less surgical trauma and fewer operations with less time in hospital.
I want to stress that long-term follow-up does not only include the functional results for defecation and continence, but also should
include an assessment of general quality of life, psychological well-being, and the possibility of an increased risk of associated illnesses as
foreshadowed in my talk on the genetics of Hirschsprung's disease. We do not know how our patients will do as they enter middle and
old age. This knowledge requires decades of follow-up. Well-constructed studies of this sort are difficult to achieve, and there are few

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 Sultan Qaboos University Hospital
25th October 2010

of them in the literature. Hirschsprung's enterocolitis is still a poorly understood problem, and a source of much of our remaining post-
operative morbidity. It may very well be multifactorial, and it has been suggested that Hirschsprung's disease patients may have immune
deficits, altered motility and functional obstruction, or simply technical anastomotic problems giving them low-grade obstruction. All
of these factors may then singly or in combination result in enterocolitis. Although in most cases the attacks decrease with age, while
in some patients there are persistent problems. I will discuss several ideas concerning this entity. Several authors and research groups
are investigating the possibility of stem cell rescue in the animal model. The development of the enteric nervous system is complex
and guided by signals that are ordered in both space and time. It remains to be seen whether injected neuroblasts will be able to order
themselves in a functionally useful way. If this sort of therapy is possible, it would make bowel resection and anastomosis a thing of the
past. Despite the promise of the new genetic technologies, in practice progress at present is more evolutionary than revolutionary and
good results continue to depend on attention to all the details of care.

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