SQU Med J, February 2011, Vol. 11, Iss. 1, pp. 138-145, Epub. 12th Feb 11

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Hirschsprung’s Disease Scientific Update
Sultan Qaboos University Hospital

25th October 2010

ABSTRACTS

Hirschsprung disease (HSCR) is a developmental disorder of the enteric nervous system, characterised by an 
absence of ganglion cells in the distal colon resulting 
in a functional obstruction.1 Although this condition 
was described by Ruysch in 1691 and popularised by 
Hirschsprung in 1886, Swenson in 1949 described 
the first consistent definitive procedure for HSCR. 

Early diagnosis of HSCR is important to prevent 
failure to thrive, enetrocolitis, colonic perforation 
and dilatation of distal gut, which not only affects 
the type and number of surgical procedures, but 
also helps to prevent post-surgical morbidity. 
Patients need to be monitored closely after surgery 
for years after surgical treatment of HSCR. With 
early diagnosis and timely treatment, most children 
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 
educational session for general doctors, nurses and 

specialists, who are involved in care of children, to 
highlight the necessity of early referral, diagnosis 
and the management. 

Currently, approximately 90% of patients with 
HSCR are diagnosed in the newborn period.2 
HSCR should be considered in any newborn, who 
fails to pass meconium within 24–48 hours after 
birth, or in any child with a history of chronic 
constipation since birth. Other symptoms include 
bowel obstruction with bilious vomiting, abdominal 
distention, poor feeding, failure to thrive and poor 
weight gain as shown in Figure 1 below. The exact 
worldwide frequency of HSCR is unknown, but 
reported occurrence is approximately 1:1500–
1:7000 newborns.3,4 HSCR occur more often in 
males; however, long-segment disease is common 

Introduction to the Update and to Hirschsprung’s Disease
Dr. Prakash Mandhan

Division of Paediatric Surgery, Department of Surgery, Sultan Qaboos University Hospital, Muscat, Oman 

Figure 1: Hirschsprung’s disease patient with abdominal 
distension and visible bowel loops. 



Abstracts | 139

in females. HSCR is uncommon in premature 
infants. Approximately 20% of infants will have 
one or more associated abnormalities involving 
the neurological, cardiovascular, urological, or 
gastrointestinal systems.5

Children may present with diarrhoea caused 
by enterocolitis, which is related to stasis and 
bacterial overgrowth. This may progress to colonic 
perforation, causing life-threatening sepsis.6 Plain 
abdominal radiographs may show distended bowel 
loops with a paucity of air in the rectum. A barium 
enema will demonstrate a narrowed distal colon 
with proximal dilation, a classic finding of HSCR, 
[Figure 2]. Another positive radiographic finding of 
HSCR is the retention of barium for longer than 24 
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 
trunks enhanced with acetylcholinesterase stain are 

also observed throughout the lamina propria and 
muscularis propria. 

Once the diagnosis is confirmed, the treatment 
is to remove the poorly functioning aganglionic 
bowel [Figure 4] and to create an anastomosis 
to the distal rectum with the healthy innervated 
bowel (with or without an initial diversion). A 
number of definitive procedures have been used, 
all of which have demonstrated excellent results 
in experienced hands. The three most commonly 
performed surgeries are the Swenson, Duhamel, 
and Soave endorectal pull-through procedures. 
Recently, the transanal pull-through in which no 
intra-abdominal dissection is performed has also 
been popular.8,9 Another addition to the surgical 
armamentarium is the laparoscopic approach to the 
surgical treatment of HSCR,10 where the transition 

Figure 2: Barium enema of Hirschsprung’s disease 
patient showing narrow rectosigmoid with proximally 
dilated bowel. The drawing is a demonstration of the 
radiological findings. 

Figure 3: Suction rectal biopsy procedure for patients 
with suspected Hirschsprung’s disease. 

Figure 4: Operative findings in a Hirschsprung's disease 
patient showing hugely dilated distal gut proximal to the 
aganglionic segment of bowel. 

Sultan Qaboos University Hospital 
 25th October 2010



Hirschsprung’s Disease Scientific Update

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

zone is first identified laparoscopically, and then 
the mobilised rectum is brought down through 
the anus. Short-term outcomes for both, transanal 
and laparoscopic approaches have been similar to 
open single stage approaches with the benefits of 
minimal analgesia and shortened hospital stays.8,11,12 

Postoperatively, although patients may encounter 
one or more problems such as anastomotic leak, 
anastomotic stricture, intestinal obstruction, pelvic 
abscess, wound infection, chronic constipation, 
incontinence and enterocolitis, the long-term 
follow-up studies have shown that greater than 90% 
of children experience significant improvement 
and will do relatively well.8,11,12 Patients with an 
associated syndrome have been found to have 
poorer outcomes.13,14

The future of children with HSCR is 
looking promising. The possibility of stem cell 
transplantation into the aganglionic gut and the 
reactivation of dormant stem cells in the gut 
to regenerate the enteric nervous system are 
being actively investigated.15 Experiments have 
demonstrated that neural crest stem cells (NCSC) 
are present, even in the adult gut, and are capable 
of proliferation and differentiation. In addition, 
researchers have been able to inject neural crest 
stem cells and later identify them in the native 
rectum. Whether or not injected stem cells or 
reactivated native progenitor cells will have the 
capability to recreate a functional enteric nervous 
system remains to be elucidated.

s p e c i a l c o n c e r n s
Total colonic aganglionosis is a more severe form 
of HSCR in which the entire colon and even some 
of the small intestine is aganglionic. These children 
have increased morbidity and mortality.16,17 
Ultrashort-segment HSCR is characterised by 
a few centimeters of aganglionic bowel in the 
rectum, adjacent to the anus. Recognizing this 
condition can be very difficult. These patients are 
not typically diagnosed until they are older and 
most patients can be satisfactorily treated with a 
surgical myomectomy, which involves resecting a 
longitudinal strip of the posterior muscular wall of 
the rectum. 

References
1. Heanue TA, Pachnis V. Enteric nervous system development 

and Hirschsprung's disease: advances in genetic and stem 
cell studies. Nat Rev Neurosci 2007; 8:466–79.

2. Vorobyov GI, Achkasov SI, Biryukov OM, Clinical features 
diagnostics and treatment of Hirschsprung's disease in 
adults. Colorectal Dis 2009. Aug 5. Epub ahead of print.

3. Meza-Valencia BE, de Lorimier AJ, Person DA. 
Hirschsprung disease in the U.S. associated Pacific Islands: 
more common than expected. Hawaii Med J 2005; 64:96–8, 
100–1.

4. Russell MB, Russell CA, Niebuhr E. An epidemiological 
study of Hirschsprung's disease and additional anomalies. 
Acta Paediatr 1994; 83:68–71.

5. Ryan ET, Ecker JL, Christakis NA, Folkmann J. 
Hirschsprung's disease: associated abnormalities and 
demography. J Pediatr Surg, 1992; 27:76–81.

6. Teitelbaum DH, Caniano DA, Qualman SJ, The 
pathophysiology of Hirschsprung's-associated enterocolitis: 
importance of histologic correlates. J Pediatr Surg 1989; 
24:1271–7.

7. Pensabene L, Youssef NN, Griffiths JM, Di Lorenzo C. 
Colonic manometry in children with defecatory disorders: 
role in diagnosis and management. Am J Gastroenterol, 
2003; 98:1052–7.

8. De la Torre L,Ortega A. Transanal versus open endorectal 
pull-through for Hirschsprung's disease. J Pediatr Surg 
2000; 35:1630–2.

9. Langer JC. Repeat pull-through surgery for complicated 
Hirschsprung's disease: indications, techniques, and 
results. J Pediatr Surg 1999; 34:1136–41.

10. Georgeson KE, Cohen RD, Hebra A, Jona JZ, Powell 
DM, Rothenberg SS, et al. Primary laparoscopic-assisted 
endorectal colon pull-through for Hirschsprung's disease: a 
new gold standard. Ann Surg 1999; 229:678–82; discussion 
682–3.

11. Langer J, Durrant AC, de la Torre L, Teitelbaum DH, Minkes 
RK, Caty MG, et al. One-stage transanal Soave pullthrough 
for Hirschsprung disease: a multicenter experience with 
141 children. Ann Surg 2003; 238:569–83;discussion 583–5

12. Langer JC, Seifert M, Minkes RK. One-stage Soave pull-
through for Hirschsprung's disease: a comparison of 
the transanal and open approaches. J Pediatr Surg 2000; 
35:820–2.

13. Caniano DA, Teitelbaum DH, Qualman SJ. Management of 
Hirschsprung's disease in children with trisomy 21. Am J 
Surg 1990;159:402–4.

14. Hackam DJ, Reblock K, Barksdale EM, Redlinger R, Lynch 
J, Gaines BA. The influence of Down's syndrome on the 
management and outcome of children with Hirschsprung's 
disease. J Pediatr Surg 2003; 38:946–9.

15. Thapar N. New frontiers in the treatment of Hirschsprung 
disease. J Pediatr Gastroenterol Nutr 2009; 48:S92–4.

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.



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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 



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

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) 



Sultan Qaboos University Hospital 
 25th October 2010

Abstracts | 143

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

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 



Sultan Qaboos University Hospital 
 25th October 2010

Abstracts | 145145 | SQU Medical Journal, February 2011, Volume 11, Issue 1

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.