Baby Boy, 2 month old

Referred from Surgery Dept.

With clinical information: Anorectal Malformation with
rectourethral fistel
Asked for : Distal lopography

From history taking we got : this patient was born

without anus, then the midwife reffered him to Dr.
Soetomo Hospital and they had done operation to create
stoma. This patient had a history of mixed urine and
fecal material when urinate

From plain photo we got:

There are three markers attached as follows:
1. Round-shaped marker in the anal dimple
2. Triangular-shaped marker in OUE
3. Rectangular 1 cm marker in the stoma

Contrast study:
Water soluble contrast dilution approximatly 40ml was
administered into the distal stoma via foley catheter
The contrast filled some part of the rectosigmoid,
rectum. And the contras didn’t wetting the marker in the
anal dimple, with distance approximatly 2,5cm
The contrast also filled a fistulous track, about 0,5 cm in
length, to the anterior urethra and then wetting the
marker in OUE, in the same times contras fill urethra
posterior and bladder.
The distance between the fistula tract and the anal
dimple approximatly 2,5 cm
There is no filling defect nor additional shadow
There is no contrast leakage nor extravasation
Conclusion:

Suporting anorectal malformation with retrouretra fistule approximatly

0,5cm, intermediate and high type (according to krickenbeck
classification) with distance betwin fistule tract and anal dimple
approximately 2,5 cm
Definisi
Anorectal malformations are a complex group of congenital anomalies involving the distal anus and rectum, as well as the
urinary
and genital tracts in a significant number of cases.

Embriologi
Between weeks 4 and 6 of gestation, both the y
olk sac or primitive hindgut and the allantois or primitive urogenital sinus enter
into the cloaca. The urorectal septum then develops forklike infoldings (Tourneux and Rathke folds) of the lateral cloacal walls;
at the same time, the embry
o starts to curve as a result of the longitudinal growth of the developing neural tube and the
mesodermal compartment.With these morphologic changes, the distance between the cloacal membrane and the tip of the
urorectal septum is progressively
 reduced.
At the end of week 7, the urorectal septum and the cloacal membrane are located at the same level. The cloaca is thus divided
into a ventral part (the urogenital sinus) and a dorsal part (the rectum and proximal anal canal). Between them, the tip of the
urorectal septum becomes the peri- neal area (Fig 1c). At this time, the cloacal membrane ruptures by
 apoptosis, thus opening two
orifices in the perineum: one ventral or urogenital and one dorsal or anal.
Also at the end of week 7, a secondary
 occlusion of the anorectal canal takes place, initially
 by
 adhesion of the walls and later by

formation of an epithelial “plug” at the anal level. This secondary
 closed anal ori ce will rupture and recanalize by
 apoptosis at
the end of week 8.
Embry
ologically
, ARMs can thus be subdivided into two main groups according to when the disturbances occur: Those
manifesting asan ectopic anal orifice or fistula are due to early
 abnormal development of the dorsal part of the cloaca and the
cloacal membrane (at weeks 4–7), whereas those manifesting as an abnormal anus in a normal position are due to later defective
recanalization of the secondary
 occluded anal orifice (at weeks 7 and 8).

Etiologi
Kegagalan penurunan dan pemisahan hindgut dari urogenital tract selama trimester II
(abnormal development of the urorectal septum in early
 fetal life)

Epidemiologi
1 dari 5000 kelahiran hidup, slight male predominance, Most cases tend to be sporadic with occasional familial forms

Anomali terkait
ARMs are associated with other congenital anomalies in up to 70% of cases.
- VACTERL (45% pasien)
 V: vertebral anomalies:
o hemivertebrae
o congenital scoliosis
o caudal regression
o spina bifida
 A: anorectal anomalies:
o anal atresia
 C: cardiac anomalies; cleft lip
 TE: tracheo-oesophageal fisula +/- oesophageal atresia
 R: renal anomalies; radial ray
 anomalies
 L: limb anomalies
o poly
dacty
ly

o oligodacty
ly

- OEIS (5% pasien)
Omphalocele, Bladder extrophy
, Imperforate anus, Sacral anomalies
- Down sy
ndrome (2-8%)
Klasifikasi
Menurut Gans:
- Anus imperforata
- Stenosis anus / rectum
- Anus ektopik (fistula ke urinary tract, genital tract, atau perineum)
- Atresia rectum

Based on the position of the rectal pouch relative to the puborectal sling:
- Letak tinggi: colon berakhir pada / di atas puborectalis sling, sling hypoplasia / (-)  fungsi
inadekuat
- Letak rendah: colon melewati puborectalis sling, sling berfungsi dengan baik
(MAR: otot sphincter ani biasany
a tidak berkembang baik sehingga fungsiny
a berganting pada puborectalis sling)

Based on the presence or absence of fistulas, the ty
pes and locations of the fistulas: The Krickenbeck classification distinguishes
5 ty
pes of fistulas: rectoperineal, rectovestibular, recto–urethral bulbar, recto–urethral prostatic, and rectovesical. Cloacal
malformations, the absence of fistulas, anal stenosis, and rare regional variants complete this classification. The extremely
 rare
rectovaginal fistula is considered a variant of cloacal anomaly
.
Diagnosis
Klinis:
- Tanda dan gejala obstruksi letak rendah
- Dapat disertai kelainan kongenital lain

Radiologis:
BOF:
Gambaran ileus obstruksi letak rendah (multiple dilated
bowel loops with with absence of rectal gas)
- Udara dalam buli, kalsifikasi meconium intralumen: MAR letak tinggi dengan fistel
rectovesica

Invertogram:
A coin/metal piece is placed over the expected anus and the baby
 is turned upside down (for a minimum 3 minutes).
Distance of gas bubble in rectum from the metal piece is noted:
 >2 cm: denotes high ty
pe
 <2 cm: denotes low ty
pe

Contrast Study
:
- Untuk mendeteksi fistula dan menentukan letak MAR
- Jarak ujung distal rectum dengan anal dimple  letak tinggi: > 1 cm, letak rendah: < 1cm
- Letak ujung distal rectum terhadap pubococcygeal line (garis antara pertengahan os pubis
dengan perbatasan sacrum-coccygeus)  letak tinggi: di atas
- Letak ujung distal rectum terhadap M line (garis melalui perbatasan 2/3 bagian atas dan 1/3
bagian bawah os ischium, sejajar dengan pubococcygeal line)  letak tinggi: di atas

Differential Diagnosis
 Hirschsprung's disease >>Tight anus, empty rectum, transition zone
 Meconium plug syndrome >> Meconium plugs
 Meconium ileus >> Abdominal distention at birth, cystic fibrosis
 Anorectal malformation >> Absent anus, tight anus or fistula
 Small left colon syndrome >>Transition zone at splenic flexure
 Hypoganglionosis >> Transition zone
 Neuronal intestinal dysplasia type A >>Transition zone, mucosal inflammation
 Neuronal intestinal dysplasia type B >> Megacolon
 Megacystis-microcolon-intestinal hypoperistalsis syndrome >> Microcolon, megacystis

Komplikasi
 Meconium peritonitis
 Fecal and urinary incontinence (due to poorly developed sacrum, deficient nerve supply,
and spinal cord anomalies); constipation

Penatalaksanaan
Most common: perineal operations, posterior sagittal anorectoplasty
 according to deVries and Peña, and laparoscopic
abdominoperineal rectoplasty
 techniques.
Letak rendah: may
 be managed early
 with a perineal approach involving opening of the rectal pouch and ligature of the fistula, if
present.
Letak tinggi: treated with colostomy
in the first day
s of life and with posterior sagittal anorectoplasty
 alone or combined with
laparoscopic abdominoperineal rectoplasty
 in a second intervention.

Prognosis
Bila sudah dibuat anus, ukur anorectal angle (sudut antara axis anus (marker+kontras) dengan axis rectum, posisi lateral+flexi hip
joint, normal: sitting position at rest: 95-105 derajat, defekasi: 130-150 derajat (normal findings). Bila < normal  konstipasi,
bila > normal  inkontinensia alvi