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Delayed diagnosis of congenital anorectal malformation

Daniel Ardian Soeselo, Garry Grimaldy, Susilawati

PII: S2213-5766(20)30080-4
DOI: https://doi.org/10.1016/j.epsc.2020.101446
Reference: EPSC 101446

To appear in: Journal of Pediatric Surgery Case Reports

Received Date: 20 March 2020

Revised Date: 2 April 2020
Accepted Date: 7 April 2020

Please cite this article as: Soeselo DA, Grimaldy G, Susilawati , Delayed diagnosis of congenital
anorectal malformation, Journal of Pediatric Surgery Case Reports (2020), doi: https://doi.org/10.1016/
j.epsc.2020.101446.

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 Abstract
DELAYED DIAGNOSIS OF CONGENITAL ANORECTAL
MALFORMATION
Daniel Ardian Soeselo1,3, Garry Grimaldy1, Susilawati2,3
1. Department of Surgery, School of Medicine and Health Science, Atma
Jaya Catholic University of Indonesia, Jakarta, Indonesia
2. Department of Pediatrics, School of Medicine and Health Science, Atma
Jaya Catholic University of Indonesia, Jakarta, Indonesia
3. Atma Jaya Teaching and Research Hospital, Jakarta, Indonesia

Corresponding Author: Daniel Ardian Soeselo, Department of Surgery, School of

Medicine and Health Science, Atma Jaya Catholic University of Indonesia,

Jakarta, Indonesia, E-mail: [email protected], Phone:

+6281381937250

Background
Congenital anorectal malformation is uncommon and often missed-diagnosed.
The diagnosis can be late due to late presentation of the complaint. Physical
examination of the neonates remains the first step towards diagnosing which has
no standard practical guidelines even in multi-disciplined education center
primary care.
Case Presentation
We present, a case of a late diagnosed low-level congenital anorectal
malformation.
Conclusion
Congenital anorectal malformation usually is easy to diagnose but often missed
during physical examination at birth. Thus, making patient come with serious
complications of the missed-diagnosed malformation.
Keywords: Anorectal Malformation, Covered Anus, Rectoperineal Fistula
DELAYED DIAGNOSIS OF CONGENITAL ANORECTAL
MALFORMATION
Daniel Ardian Soeselo, Garry Grimaldy, Susilawati

Introduction
Congenital anorectal malformations are rare, and it occurs approximately
from 1 in 2000-5000 births.1 It is often missed during physical examination at
birth as the standard of neonate physical examination remain ambiguous.
Treatments are usually delayed due to late complaints of signs and symptoms,
thus leading to late diagnostics and complications.

Case Presentation
An 11-month-old boy was brought to the pediatric clinic with a chief
complaint of defecation difficulties for 1 months prior. The patient was born with
cs delivery at term from a 34-year old G3P2A0 mother. Anorectal examination
was done using a thermometer. The patient passed normal meconium before 24
hours of age. He was the third sibling, and no family history of congenital
anorectal or other malformations. The antenatal care was uneventful in the nearest
primary care. The patient was breast fed until 6 months old and passed soft stools
normally once a day. At 6 months old, the baby started supplementary feeding
thus the stool frequency has decreased, and the consistency was a bit solid. 1
months prior, the baby was fed porridge and the complaints began. Growth and
developmental milestones were normal.
On physical examination, physical signs included a weight of 8.5 kg, height of
74 cm thus normal body mass index. Plain abdominal x-ray showed colon
dilatation with no wall thickening, and prominent fecal material which suggestive
of early meteorismus. The pediatrician gave suppository laxative, but the patient
still cannot defecate. Hence, the patient was referred to a surgeon. Anorectal
examination by the surgeon showed that patient strained, with positive feces and
little finger could not enter the anus.
Working diagnosis was rectoperineal fistula which was a low defect of
anorectal malformation. Cut-back anoplasty operation in lithotomy position was
performed under general anesthesia and anus was found not in the central of anal
dimple but on the right side of anal dimple (figure 1 and 2.) A 2-cm midline
posterior sagittal incision was made. Feces was evacuated using forcep and
dilatation was done using Hegar dilator from size 12 to 14. Then
mucocutaneously sutured with a 3.0 absorbable sutures. Anal tone was
satisfactory. After the operation, the patient had defecated well. The patient was
discharged on 2nd postoperative day with routine follow up every week. The
parents were teached to continue dilatations every day using a size 14 Hegar
dilator. After 3 weeks of follow up, the baby had several episodes of constipation
and the parents had troubles using dilators, thus the patient was referred to
pediatric surgeon for colostomy.

Figure 1.

Figure 2.

Discussion
Anorectal malformation (ARM) is classified in the Wingspread
Conference classification (1984) to high, intermediate and low anomalies, but
nowadays it has been classified into high and low.2,3 Low anorectal malformation
in male which is referred as rectoperineal fistulas have some manifestations such
as covered anus, anal membrane, anteriorly mislocated anus, and bucket-handle
malformations. In the female, low anorectal malformation referred as
rectoperineal fistulas and rectovestibular fistulas. The rest was classified into high
anomalies.4
Incidence of anorectal malformations occurs approximately ranging from
1 in 2000-5000 births and ranged from minor to complex anomalies.1 Wherein
low ARMs were observed in 33% and 38% of males and females, respectively.5
The exact etiology of anorectal malformations remains unclear. Studies
show that genetic factors and environmental factors which aberrate the hindgut
development contributes to development of anorectal malformations.1,2,5,6
Diagnosis of anorectal malformation during antenatal is very rare, below
15% of the cases.7 On ultrasonography examination, direct findings include no
perianal muscular complex and no target sign (hypoechoic anal sphincter and
echogenic anal mucosa). Indirect findings include dilated distal bowel segments
and calcified intraluminal meconium in 2nd & 3rd trimester.8 Three-dimensional
ultrasonography is more accurate to determine the type of ARM. 3D
reconstruction is used to specify the location of an ectopic anal sphincter. Fetal
MRI is an excellent supplementary examination to confirm the presence of bowel
dilatation and enterolithiasis.7–9
The examination during births remain the standard procedure which
absence or abnormal location of anus is apparent. In the male, inspection of the
perineum in the look for anal pit for the low level. In the female, normally there is
three visible openings – urethra as the most anterior, followed by vagina as within
the vestibule and behind the perineal body is the anus. The presence of three
opening with anus not in the normal site, indicates a rectoperineal fistula
(formerly called anterior perineal anus); if the opening is within the vestibule
indicates a vestibular fistula. When there are two openings only, it indicates
rectovaginal fistula or a blind ending rectum with no fistula. A single opening
indicates the persistent cloaca.3,4,10 In our case, the anorectal malformation was
low level anorectal malformation as anterior mislocated anus.
Our case was the simplest spectrum of the anorectal malformation in male.
The patients will have bowel control with or without surgery. But, they may have
problem in later life if the stool is loose or during athletic activities.11 The onset of
symptoms typically coincides with the introduction of puree diet as in our
patient.12
The management of the anorectal malformations differs in each
presentation between high and low malformation. In our case, it is better to
confirm the anal sphincter complex using electromyography (EMG) to stimulate
the cutaneous anal reflex. But, as the case was presented in the secondary level
health facilities, thus we don’t have the necessary equipment to do it. Thus in our
case usually a simple anoplasty as described by Hendren (1978) would suffice.12
But, minimal PSARP and minimal posterior sagittal anoplasty is the current
standard technique.4,11–13
Delayed diagnosis of anorectal malformations defined as a diagnosis made
more than 24-48 hr of life. Delayed diagnosis leads to complications because the
longer the stenosis, causing distal occlusion, which resulting distended, ischemia,
insensitive and aperistaltic leads to intestinal perforations. The risk of intestinal
perforation increases significantly after 24 hr 10,14.
Anorectal malformations are often misdiagnosed during early weeks. This
study corelates that the use of rectal thermometer in neonates may have led to an
increased rate of missed anorectal malformations diagnosis.14,15
It is easy to diagnose high anorectal malformation because of the clinical
findings. But it is difficult to diagnose low anorectal malformation because the
often-missed normal-like clinical findings. Diagnosis requires inspection and
palpation. During palpation, clinicians must note the size of anus and its location
within anal sphincter complex then confirm it by stimulation (cutaneous anal
reflex) or electromyography (EMG) if in doubt. Rigid anal is abnormal, which
normal anus will stretch after a slow and gentle insertion with a well-lubricated
little finger. And take note of the meconium that went out in less than 24 hrs of
age.14,16

Conclusions
Good anorectal physical examination at birth can prevent misdiagnosed
anorectal malformations especially low-level ARM. In this case presentation, we
highlight digital rectal examination in order to recognize the low-level ARM. We
recommend digital rectal examination as the standard procedure of anorectal
examination during birth.

Patient Consent
Consent to publish the case report was not obtained. This report does not
contain any personal information that could lead to the identification of the
patient.

Funding
No funding or grant support.

Authorship
All authors attest that they meet the current ICMJE criteria for Authorship.

Declaration of Competing Interest

The authors declare that they have no known competing financial interests
or personal relationships that could have appeared to influence the work reported
in this paper.

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Declaration of interests

☒ The authors declare that they have no known competing financial interests or personal relationships
that could have appeared to influence the work reported in this paper.

☐The authors declare the following financial interests/personal relationships which may be considered
as potential competing interests: