Clinical Radiology 72 (2017) 519.e11e519.

e19

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Clinical Radiology
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Radiologist performance in the interpretation of

contrast enemas performed for Hirschsprung’s
disease in children >1 year of age
T.J. Hwang*, S. Servaes, P. Mattei, S.A. Anupindi
Department of Radiology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

art icl e i nformat ion AIM: To evaluate the diagnostic performance of contrast enemas (CEs) for the diagnosis of
Hirschsprung’s disease (HD).
Article history: METHODS AND MATERIALS: CE studies performed as part of an HD workup in patients 1e18
Received 16 March 2016 years of age over a 10-year period were identified. All abnormal CE studies and an equal
Received in revised form number of age-matched controls were included in the final study group. Two radiologists
19 September 2016 independently and blindly reviewed all CE studies for quality (scale of 0e3) and the presence
Accepted 12 January 2017 of large colon calibre, colon redundancy, transition zone, rectosigmoid ratio, and abnormal
contractions. Readers also determined whether a rectal biopsy would be recommended to
confirm an HD diagnosis. Discrepancies were resolved in consensus. Findings were correlated
with surgery and biopsy data.
RESULTS: Out of 834 CE studies, 38 abnormal CE studies were identified (mean age 5.9 years)
and included 38 matched controls. Seventeen of 76 patients were recommended for rectal
biopsy, of which five were confirmed to have HD. Twelve of 70 (17.1%) were false positives, and
were clinically confirmed not to have HD. The proportion of HD in the present population was
6/834 (0.72%). Of the 17 recommended for biopsy, CE studies showed 17/17 (100%) with an
abnormal rectosigmoid ratio, 16/17 (94.1%) with redundant colon, and 15/17 (88%) with large
colon. Of patients not recommended for biopsy, one was diagnosed with HD, (false negative,
16.7%). The diagnostic performance of CE was 83.3% sensitivity and 82.9% specificity.
CONCLUSION: Few children >1 year of age were found to have HD and the diagnostic per-
formance of the CE is moderately high. The CE examination is a valuable non-invasive imaging
study to help exclude older children who may not have HD, thereby obviating the need for
invasive rectal biopsy and surgery.
Ó 2017 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.

Introduction

Chronic constipation is a common problem in children,

* Guarantor and correspondent: T. J. Hwang, Department of Radiology, The
Children’s Hospital of Philadelphia, Philadelphia, PA, USA. Tel.: þ1 316 293
9261.
E-mail address: tiffanyhwang@gmail.com (T.J. Hwang).
accounting for 3% of visits to paediatric clinics and 25% of
visits to paediatric gastroenterologists.1 Ninety to 95% of
these cases are diagnosed as functional constipation, which
can often be treated with dietary and behavioural modifi-
cations.1 The other 5% of cases have an organic aetiology,

http://dx.doi.org/10.1016/j.crad.2017.01.007
0009-9260/Ó 2017 The Royal College of Radiologists. Published by Elsevier Ltd. All rights reserved.
519.e12 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19
such as Hirschsprung’s disease (HD), which occurs in
approximately 1/5,000 live births.2 HD is caused by the
absence of ganglia in the myenteric and submucosal plex-
uses of the distal intestine and is usually confined to the
rectosigmoid region. The most common symptoms seen
early in the neonatal period are (1) absent or delayed pas-
sage of meconium, (2) signs of distal intestinal obstruction,
and (3) enterocolitis presenting with bloody stool. The
presentation in older children is usually constipation.3 Most
children with HD are symptomatic in the early stages of life,
with reported rates of 60% symptomatic by 1 week and 87%
by 1 year.4 A review in Japan of approximately 3,500 cases
of HD over 30 years observed 87.94% of cases being diag-
nosed before 1 year of age.5 Several studies have reported
findings that highlight the rarity of diagnosing HD after the
first year of life.1,6
The classic approach to diagnosing HD includes detailed
stooling history, contrast enemas (CEs), and anorectal
manometry examinations despite studies having shown
these methods to have low sensitivities and specificities,
particularly in the newborn period.7 Despite imaging find-
ings, rectal suction biopsy (RSB) is considered the reference
standard for the diagnosis of HD.
The combination of broad guidelines for when to use CEs
and a desire to rule out HD in a wide range of children with
constipation has led to the increased use of CEs in consti-
pated children of all ages despite the apparently low inci-
dence of HD in older children.6,8 A more complete
understanding of the value of CE studies in older children
with suspected HD would allow these children to undergo
the most valuable and effective diagnostic examinations.
The purpose of the present study was to identify the
proportion of HD in children >1 year of age over a 10-year
period at a large paediatric centre, and secondly, to evaluate
the diagnostic performance of radiologists in reading CEs
for the assessment of the characteristic features and diag-
nosis of HD.
Materials and methods
Patient selection
The present retrospective study was approved by the
institutional review board and was Health Insurance
Portability and Accountability Act (HIPAA) compliant with
an exemption from obtaining patient consent. An internal
radiology and surgery database was reviewed to identify
CEs performed over a 10-year period on patients >1 year
old. CEs performed on patients with a prior history of HD,
CEs that were performed for therapeutic reasons or in-
dications other than HD evaluation, and CEs with incom-
plete reports or imaging were excluded from the final study
group. The diagnostic reports for all included CE studies
were then reviewed for abnormal findings indicative of HD.
Keywords included “abnormal rectosigmoid ratio” and
“transition zone”. The CE studies with abnormal findings
were then correlated with the medical records to review for
HD diagnosis based upon: (1) presenting symptoms that
lead to HD diagnosis, (2) rectal biopsy histopathology re-
ports, (3) anorectal manometry results, (4) presence or
absence of pull-through surgery, (5) complications of bi-
opsy or surgery, (6) follow-up radiographs, and (7) clinical
follow-up for a minimum of 1 year. At the authors’ insti-
tution, all rectal biopsies performed in children >1 year of
age occur in the operating room under general anaesthesia.
Rectal biopsy was considered the reference standard for
diagnosing HD. Non-HD cases were therefore defined as
either negative biopsy or lack of biopsy plus absence of
clinical signs on follow-up that excluded them from having
HD. Surgical reports were cross-referenced to ensure all
abnormal CE studies that later went to biopsy were iden-
tified. Surgical reports were also reviewed to compare
radiographic transition zone locations with their surgically
identified locations.
Age-matched controls (patients who underwent diag-
nostic CE but were not referred for biopsy and did not have
HD) were included to represent the population of normal CE
studies, as HD is a rare disease. For each abnormal CE study,
one normal CE study was selected (performed within 1 year
of the abnormal CE study on a patient within 6 months of
the same age) and used in the final image analysis.
Indications for a CE (based on institutional guidelines)
The main indications for a CE in children >1 year of age
include: progressive severe constipation since infancy,
encopresis with abdominal distention, severe constipation
refractory to medical therapy, anterior anus, and rectal
prolapse due to severe constipation. Severe constipation in
children with particular syndromes places them at a higher
risk for HD. Some syndromes associated with HD include
congenital central hypoventilation syndrome, trisomy 21,
deletion of chromosome 13q, and BiedleBardet to name a
few.8,9
CE technique
CEs were performed in an unprepped colon, and the
general technique was to place a catheter without balloon
into the rectum just beyond the anal verge with the patient
in a lateral position and instilling contrast medium slowly in
a retrograde and controlled fashion.8 A balloon should not
be used to reduce the chance of bowel perforation and, in
addition, to avoid falsely distending the rectum.8 Spot im-
ages were obtained immediately as contrast medium filled
the colon, with the patient in a lateral position, to capture
potential transition zones. Contrast medium filling should
be slow and well-controlled. It is important that the cath-
eter used does not get pushed very proximal beyond the
anal verge or beyond the rectum as distal short transition
zones may be obscured. The number of spot images ac-
quired and filling of the entire colon was at the discretion of
the radiologist performing the study. In general, a spot
image of each segment of the colon including, descending
colon, flexures, transverse colon, ascending colon, and
caecum should be obtained. Attempts may be made to
reflux contrast medium into the terminal ileum, but are not
 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19 519.e13

necessary. Either barium (Polibar ACB, barium sulfate 96%
w/w, E-Z-EM, Lake Success, NY, USA) or water-soluble
iothalamate meglumine (Cysto-Conray 17.2%, Mallinck-
rodt, St Louis, MO, USA) was used. Barium was used in the
authors’ department until 2007, after which water-soluble
contrast medium, Cysto-Conray 17.2%, became the pri-
mary contrast agent. Twenty-four hours post-CE evacuation
films were not part of the enema protocol for important
reasons. Prior unpublished data showed low sensitivity and
specificity for diagnosing HD using the 24-hour delayed
film.9 This, combined with a lack of patient and family
compliance in returning for the delayed film, resulted in
foregoing this additional radiograph as part of the depart-
mental protocol.
A child with enterocolitis or a child with active bleeding
per rectum should not undergo a CE examination.8,9 Clinical
manifestations of enterocolitis include explosive watery
diarrhoea, abdominal distention, fever or signs of hypo-
volaemic shock.9 This is usually a gastrointestinal emer-
gency and is a contraindication for performing a CE
examination. It is not safe to perform a CE examination in
these patients as the mucosa is friable and any invasive
procedure can lead to colonic perforation.
Imaging findings in HD
The classic imaging findings in HD on a CE examination
include: the presence of a transition zone with an abnormal
rectosigmoid ratio of <1 with a small distal colon and more
dilated colon proximally.10,11 There is often a very large stool
burden and abnormal contractions in the aganglionic
segment in the rectum.
The parameters of the colon calibre and redundancy
were partially based on subjective analysis by both readers
as illustrated in examples Figs 1e3. The colon was not
measured when determining the calibre, but was rather
based on a qualitative agreement between both readers that
the colon was capacious (Fig 3) compared to a normal
reference standard (Fig 1). Redundancy was defined as
seeing one or two turns of the colon in any one segment
(Fig 2). Abnormal contractions were defined as saw-tooth in
appearance in the narrow segment of the rectum repre-
senting non-peristaltic contractions.8 Although these con-
tractions need to ideally be identified in real-time when
performing the CE, spot images can also capture this
feature. The rectosigmoid ratio, the relationship of the
diameter of the rectum to the sigmoid above it, should be
1.8,11 If the rectum diameter was smaller than the sigmoid,
the reader considered this ratio abnormal. The transition
zone was assessed as the location in the colon where the
colon diameter changed gradually from narrower to larger.
Statistical analysis
Demographic data were presented using summary sta-
tistics; continuous variables were described using ranges
and means, and categorical variables (gender, diagnosis)
were described using frequencies with percentages. Sensi-
tivities, specificities, false-positive rates, and false-negative
rates were calculated to evaluate the diagnostic reliability of
each of the following characteristics on CE: (1) large calibre

Image analysis

Two radiologists independently reviewed a set of CEs,

comprised of all abnormal CE studies and an equal number
of matched normal CE studies, in a random order. Readers
were blinded to all clinical and surgical data and asked to
evaluate each CE study for the following parameters: large
colon calibre (yes/no), colon redundancy (yes/no), abnormal
rectosigmoid ratio (yes/no), location of transition zone if
present (rectum/rectosigmoid/sigmoid/colon), presence of
abnormal contractions (yes/no), and quality of CE technique
(inadequate, score¼0; adequate, score¼1; good, score¼2;
excellent, score¼3). The quality of CE technique was graded
as inadequate if the whole colon was not filled, the patient
was inappropriately positioned, or there was over-filling
without an appropriate number of spot radiographs. After
assessing a CE study for these seven characteristics, the
reader then indicated whether a rectal biopsy would be
recommended to evaluate for HD. Discrepancies between
the two readers were resolved by a joint consensus review.
These consensus values or individual rater values were then
used to calculate the sensitivity, specificity, false-positive
rate, and false-negative rate for the various imaging char-
acteristics in diagnosing HD. Discrepancies in assessment of Figure 1 CE examination performed in a 12-month-old patient
quality of CE technique were averaged between the two without HD and used as a reference standard for colon calibre and
readers. lack of redundancy.
519.e14 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19
Figure 2 CE in a 14-month-old child who had delayed passage of
meconium and long-standing constipation without HD. There are
turns in the descending colon and hepatic flexure (arrows) consid-
ered as colonic redundancy.
colon, (2) colon redundancy, (3) abnormal rectosigmoid
ratio, (4) presence of abnormal contractions, and (5) overall
recommendation for rectal biopsy. The inter-reader vari-
ability for the two radiologists was compared using the
kappa test. A kappa value of <0.40 indicated poor
Figure 3 Two older patients, A, and B, with severe constipation and biopsy proven to have HD demonstrating large calibre colon as illustrated by
the capacious colon filled with stool, which is outlined by the contrast medium (arrows).
agreement, 0.40e0.59 fair agreement, 0.60e0.74 good
agreement, and 0.75e1.00 excellent agreement.12 Signifi-
cance was defined at p<0.05. Statistical analyses were
performed using SPSS version 21 (IBM, Armonk, NY, USA).
Radiation dose
The present study spanned a 10-year period and a few
upgrades and modifications in fluoroscopy equipment have
taken place during this time frame. In addition, the fluo-
roscopy dose and time were a mandated part of the radi-
ologist’s report only a few years ago. Only a few of the cases
in this research study have this information available. Due
to this variability, the radiation dose for each CE could not
be calculated and was not included in the analysis.
Results
Over a 10-year period, 923 CE studies performed in
children who presented with constipation >1 year of age
were identified. The exclusion criteria excluded 89 of these
studies due to CEs performed for patients with a known
history of HD (n¼34), CEs performed for indications other
than HD (n¼33), CEs with incomplete CE reports or imaging
(n¼13), and CEs performed for therapeutic purposes (n¼9).
Thus, 834 CE studies in 834 individual patients were
included in the final study, with an average patient age of
5.5 years. Review of diagnostic reports identified 38
abnormal CE studies that included 28 males and 10 females
with an average age of 5.9 years (range 1.1e18.3 years;
Fig 4). All 38 of these patients had a clinical history of
constipation for duration of “a few months” to “a few years”
and two patients had delayed passage of meconium. Six of
these 38 patients (15.8%) were later diagnosed with HD.
Associated co-morbid states were identified in 3/38 (7.9%),
 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19 519.e15

Figure 4 Breakdown of all CE examinations over the study period of 10 years. The number of true positive (TP), true negatives (TN), false
positives (FP), and false negatives (FN) in the study are depicted.

two with Down’s syndrome and one with partial deletion of
chromosome 15.
Therefore, the final group of CE studies presented to the
blinded radiologists was comprised of 76 CE studies (38
abnormal studies and 38 matched controls). The two-
reader average scores for quality of enema technique
revealed that the majority 72/76 (94.7%) of CEs were per-
formed with adequate to excellent technique, whereas 4/76
(5.3%) were performed with inadequate technique. Of these
four with inadequate technique, two were recommended to
have biopsy by both readers and both of these patients did
not have HD.
Seventeen out of the 76 (22.4%) were recommended for
rectal biopsy by both readers. Of these, 17/17 (100%) had an
abnormal RS ratio (Figs 5e6), 16/17 (94.1%) had a large colon
calibre, 15/17 (88.2%) had a redundant colon (Fig 7), and 2/
17 (11.8 %) had abnormal contractions. Of these 17 patients
recommended for biopsy, only five were subsequently
diagnosed with HD confirmed at histopathology, resulting
in a false-positive rate of 17.1%, as defined by false positives
divided by the sum of false positives and true negatives. The
proportion of HD in the present population was 6/834
(0.71%).
Of the 59/76 patients who were not recommended for
biopsy by both readers, no patient had an abnormal rec-
tosigmoid ratio or abnormal contractions; however, 28/59
(47.5.6%) had large calibre colons and 37/59 (62.7%) had
redundant colons. One of these 59 patients went on to
be diagnosed with HD, resulting in the only false-negative
(1/76; 1.31%) examination of the present study. Therefore,
in 59/76 (77.6%) of the study population the CE abdicated
the need for biopsy.
Overall, the diagnostic performance of CE in detecting
HD was 83.3% sensitivity and 82.9% specificity. In examining
the specific imaging features on the CEs and correlating
with the diagnosis of HD, the presence of contractions had

Figure 5 CE in a 1-year-old (1.2 years) patient confirmed to have HD shows a clear transition zone (a) in the true lateral projection and (b) lateral
oblique position in the rectosigmoid colon (arrows).
519.e16 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19
Figure 6 False-negative CE study. The transition zone was not readily
seen as there is redundancy of the bowel loops; however, there is a
dilated bowel with a change in calibre (arrows) in the proximal
rectosigmoid.
high specificity whereas redundancy and colon calibre had
high sensitivity (Table 1). An abnormal rectosigmoid ratio
was closely correlated with overall diagnostic evaluation of
HD, sharing the same sensitivity and specificity (83.3% and
82.9%, respectively; Table 1).
Clinical outcome of patients with HD
Six of the 38 (15.8%) patients with abnormal CE studies
were later diagnosed with HD based on positive rectal
Figure 7 Another patient, nearly 6 years old (5.7 years), with confirmed HD. (a) The anteroposterior view illustrates the enema the marked
redundancy of the colon (arrows). (b) A transition zone is seen in the rectosigmoid (arrows).
biopsy results. All six patients had surgery. Four had a
Swenson pull-through and two had a Soave pull-through
procedure. Three out of six patients had no postoperative
complications. The other three had complications listed in
Table 2.
Discussion
Constipation is a very common presentation in child-
hood. The majority of the time it is idiopathic, but in a few
cases, it can be a result of diseases, such as HD. Currently in
the authors’ institution, the diagnosis of HD is made using a
combination of clinical history, stooling history, CE, and
rectal biopsy. The presentation and diagnosis of HD in the
neonatal period is very different from that in older children.
The diagnosis of HD in an older child is more challenging
and often preceded by long periods of well-managed
symptoms with enemas and laxatives, lending to the late
diagnosis.13
The foremost aim of the present study was to identify the
proportion of HD in the older paediatric population. The
Children’s Hospital of Philadelphia is a large tertiary-care
and referral centre for the region. Over 10 years >900 CE
examinations have been performed for constipation;
regardless, the proportion of HD in the population of chil-
dren >1 year of age is quite low (<1%; 0.71%). This reflects
what has been described in the literature to date.1,13,14 Khan
et al.1 observed one case of HD out of 97 children >1 year of
age undergoing evaluation for chronic constipation. Among
children <1 year of age in the same study, 24 out of 85 were
diagnosed with HD.1 Noviello et al.6 reported similarly
disparate frequencies of diagnosis when comparing chil-
dren under and over 1 year of age (50% versus 1.8%,
respectively). Stensrud et al.13 reported identifying 11 chil-
dren with HD over a >12-year period from their HD registry.
This same group reported that early diagnosis was imper-
ative as the postoperative complications were more
frequent in the older HD patient.13 It is important to
 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19 519.e17

Table 1
Diagnostic performance by individual readers and consensus for diagnostic features of Hirschsprung’s disease on contrast enema.

Sensitivity (95% CI) Specificity (95% CI) Kappa (95% CI)

Diagnosis 83.3% (35.9e99.6%) 82.9% (72e90.8%) 0.56 (0.34e0.77)
Rectosigmoid ratio 83.3% (35.9e99.6%) 82.9% (72e90.8%) 0.54 (0.32e0.76)
Redundancy 100% (54.7e100% 34.3% (23.3e46.6%) 0.33 (0.06e0.59)
Contractions 33.3% (4.3e77.7%) 100% (94.9%e100%) 0.38 (0.17e0.93)
Colon calibre 100% (54.1e100%) 45.7% (33.7e58.1%) 0.74 (0.59e0.89)

CI, confidence interval.

consider when the constipation began for the older child. If
it began after the neonatal period, then HD is unlikely and
some advocate not performing rectal biopsy and placing the
patient at risk for potential complications of anaesthesia
and a biopsy.1,15
RSB or a full-thickness rectal biopsy is considered the
reference standard for the diagnosis of HD. Absence or low
levels of acetylcholinesterase activity in the lamina propria
or absence or reduced levels of ganglion cells in the sub-
mucosa are signs of hypoganglionosis. A study of 766 cases
that used RSB as the first diagnostic approach in children
with chronic constipation showed that 82% of RSB speci-
mens were normal.7 Although the authors suggest that the
high degree of accuracy and low amount of complications
justify the use of biopsy as a first diagnostic approach to
chronic constipation, the invasiveness of the procedure
renders it unviable as a first diagnostic approach and should
be indicated when the CE examination is abnormal.7 In the
present study, the CE examination abdicated the need for
biopsy in 77.6% of the patients, which is a significant
number.
The CE (barium) was introduced in the 1950s as the
diagnostic procedure of choice in the evaluation of HD16 The
value of the CE examination in the diagnosis of HD has been
controversial in both the radiology and surgery literature
because of its variable and low reported sensitivity for
detection of HD. O’Donovan et al.17 in 1996 examined the
use of barium contrast medium versus water-soluble
contrast medium for performing diagnostic enemas in
children. He found that the two methods had equivalent
sensitivities and specificities for the detection of HD. In fact,
water-soluble CE was preferable and found to be safer in
patients at risk of perforation.17 Combining the results of
the two methods, the study of O’Donovan et al. resulted in a
sensitivity of 65% and specificity of 60% based on the pres-
ence of a transition zone.17 At the authors’ institution,
barium was the predominant contrast agent used in the
department until 2007, when water-soluble contrast me-
dium became more consistently used. Because the type of
contrast medium was not consistently recorded in the pa-
tient’s medical record or in the enema reports, a compari-
son of both contrast agents could not be performed in the
present study. In another paediatric publication, the CE had
a low sensitivity (76%), but a high specificity (97%) in pa-
tients both below and above the age of 1 year.3 Reid et al.14
also described a similar diagnostic performance in their
group of 54 patients, including children >1 year, where
there was a sensitivity and positive predictive value (PPV) of
83% and a specificity and negative predictive value (NPV) of
98%. In the present study, as seen in Table 1, a moderate
sensitivity (83%) and specificity (82.9%) was found for the
diagnosis of HD on CE. These numbers are similar to that

Table 2
Clinical and imaging characteristics of patients with confirmed diagnosis of Hirschsprung’s disease.

Patient no. Sex Time from Presentation Age at CE findings Surgery Transition Associated Post-surgical
CE to biopsy diagnosis zone location anomalies complications
(days) (years) on surgery
1 F 13 Delayed 1.24 Rectosigmoid TZ large Soave Rectosigmoid None None
meconium calibre redundant
2 M 13 Delayed 1.75 Rectosigmoid TZ large Swenson Rectosigmoid Down’s Anastomotic leak;
meconium calibre, redundant syndrome small bowel
resection;
ileocolonic
anastomosis
3 M 20 Constipation 2.62 Proximal sigmoid TZ, Soave Proximal Down’s None
large calibre, redundant, sigmoid syndrome
abnormal contractions
4 F 761 Constipation 5.75 Rectosigmoid TZ, large Swenson Rectosigmoid None None
calibre, redundant
5 M 1 Constipation 3.66 Rectosigmoid TZ, Swenson Rectosigmoid None Pain, distention and
large calibre, redundant vomiting
6 M 42 Constipation 12.71 Proximal sigmoid TZ, Swenson Proximal Partial Narcotic-induced
large calibre, redundant sigmoid chromosome hypoventilation and
15 deletion acute renal failure
with full recovery

CE, contrast enema.

519.e18 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19
reported by Taxman et al.18 and other previous authors.3,14
Although the CE is an uncomfortable, anxiety-provoking
examination, and uses ionising radiation, it is still an
excellent imaging tool to screen those who do not need a
rectal biopsy as reflected in the moderately high specificity.
When looking at which specific features on the CE corre-
lated well and were most sensitive for the diagnosis of HD,
the present data resulted in a high sensitivity for colonic
redundancy (100%) and large colon calibre (100%); however,
the specificity for both of these findings was low as outlined
in Table 2. There was only moderate sensitivity and speci-
ficity for the abnormal rectosigmoid ratio. Rosenfield et al.11
originally reported that an abnormal rectosigmoid ratio and
the presence of a transition zone in the rectosigmoid were
highly accurate and reliable signs of HD. In our five out of six
patients who were diagnosed with HD on the CE, excluding
the one false-negative case, the radiologist localisation of
the transition zone correlated with the location identified at
surgery. This does not closely reflect what prior authors
have reported. In general, the sentiment is that the corre-
lation between the radiographic transition zone and the
real surgical transition zone is poor.19e21
Because the presence of a transition zone in the rec-
tosigmoid has been considered the most reliable sign of HD,
paediatric imagers are trained to focus on this and correctly
identify the presence or absence of a transition zone.19e21
Jamieson et al.,19 describe the false-positive rate of identi-
fying a transition zone on a CE at an alarmingly high rate of
43%. In the present study, a significant false-positive rate of
17% was also found. This may be attributed to a few reasons.
Long-standing constipation in older patients can result in a
capacious rectum contained in a narrow pelvic vault,
potentially leading to a false transition zone. Bowel
cleansing regimens and rectal manipulation performed
prior to the CEs could potentially also lead to false-positive
results. This information was difficult to ascertain from the
medical charts and may not have been recorded. Unlike
prior publications where the false-negative rate has been
described as 20e25%, the present false negative rate was
overall lower with only one case out of six (16.7%). Both of
the readers have >10 years of experience performing and
interpreting CEs in children.
The inter-reader variability in evaluating CE was also
investigated for the overall diagnosis of HD and in the
evaluation of particular enema features suggestive of HD.
This is unique to the present study, as previous authors have
not reported this. Only moderate agreement was found
between readers in making a diagnosis of HD, despite
setting standards, prior to image review, in research inter-
pretation of the CE analysis to minimise interpretation
variability and bias. This may be attributed to the fact that
there was lack of uniformity in the radiographic technique
of the enemas performed over a 10-year period, with only
static images provided for viewing, and in some cases, it is
possible that not all images were available for analysis. Four
cases were scored as having an inadequate technique,
which likely negatively influenced the research reads as
two of these four were recommended for biopsy, yet neither
patient had confirmed HD at histopathology.
There are several limitations of the present study, in
addition to those already mentioned. Foremost, this was a
retrospective study and there is a possibility of unmeasured
confounders, which may explain the results. In addition, the
CE is a dynamic study and due to the retrospective nature of
this study, dynamic radiological features were unable to be
assessed. The fluoroscopic CE technique was not stand-
ardised, which can negatively impact interpretation. In
addition, the focus of the initial search was on just the
abnormal CE studies found in the radiology and surgery
databases, and it is possible patients who should have been
included in the study group were overlooked. Certainly, the
false-negative rate of 1/76 may be an underestimation, as
not all of the 834 total CE examinations were considered,
but only a subset. Although the fluoroscopic units used
throughout the 10-year period of the study were calibrated
for a low-dose paediatric technique, the actual radiation
dose could not be accurately and efficiently calculated for
this project. There is a risk both with surgical biopsy and
radiation exposure from the CE; however, a comparative
risk stratification could not be compiled between both
groups. Finally, anorectal manometry can be an adjunct
study to CE, especially when the CE and biopsy are normal.
In the present study, patients were all >1 year of age, and
thus an abnormal anorectal manometry examination
should indicate a pathological finding.3,14 Very few patients
in the present study were found to have had anorectal
manometry performed during the course of the time period
of the project; therefore, a detailed analysis of these data
was not included as it may not be meaningful.
Overall, the CE examination is an inexpensive, non-
invasive examination that is easy to perform and more
available in many centres in contrast to rectal biopsy and
anorectal manometry. With current advanced fluoroscopic
technology and the use of child life services in the authors’
department, the radiation dose is kept to a minimum and
children and their families are put at ease to improve their
experience. The CE provides important anatomical infor-
mation while minimising morbidity, in contrast to a more
invasive procedure such as rectal biopsy. In the end, the
length and severity of symptoms in an older child with
constipation along with the CE findings can provide the
most comprehensive information to dictate the necessity of
a rectal biopsy, especially if the CE is normal.
In conclusion, the overall proportion of HD is low in
children >1 year of age. The diagnostic performance of the
CE in diagnosing HD is moderately high and the inter-reader
variability is moderate at most. Yet, despite the questioning
role of CE in this population, it has an important role in
older children with long-standing constipation. Prior to
performing a CE in a child, the appropriate risks and ben-
efits need to be considered. Despite exposure to ionising
radiation and the uncomfortable nature of the examination,
the CE is a valuable, well-tolerated, reliable, non-invasive
imaging study to exclude patients who most likely do not
have HD, obviating the need for invasive rectal biopsy and
surgery. Future studies comparing CE and manometry in
this paediatric population are needed to help define the role
of these complementary studies.
 T.J. Hwang et al. / Clinical Radiology 72 (2017) 519.e11e519.e19
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