Ryan Em C.

Dalman MD MBA - 070070

Present a case of Imperforate Anus
Discuss the pathophysiology and
management of Imperforate Anus
Patient History
Live preterm baby boy, born via primary CS
for non-reassuring-fetal-heart-rate pattern
and IUGR, at 35 weeks AOG, born on January
25, 2011

30 year-old G3P1 (0121)
Pre-ecclampsia
Maternal PMH: unremarkable
1
st
trimester
Premature contractionsadmitted for 1 week, given
duphaston
2
nd
trimester
UTI by urinalysis 3x, given 7 days unrecalled
antibiotics for each week
~30weeks AOG, BP 150/100, started on methyldopa
250mg BID
BP at home was uncontrolled
3 days PTA, (+) headache, methyldopa increased
to 500mg q6h, but was persistent and was
admitted
unremarkable
Physical Exam
BW 1040g
BL 35 cm
HC 28 cm
AC 21 cm
AS 9,9
MT 35 weeks, AGA

Active, good cry
Fontanels - flat
Pupils - brisk
Muscle tone - normal
Strength of
extremities- normal
Extremities no
deformities
Chest expansion-
normal

Breath sounds clear
and equal
Abdomen - soft
Anus - imperforate
Spine intact
Color - pink
Cord - dry
Skin - clear
Pulses - strong
CRT <3 sec
Edema - none

Case Discussion
Imperforate anus
None
There is no differential diagnosis for an
imperforate anus
Abnormal termination of the anorectum
Ranges from anal stenosis to persistence of
cloaca
Most common defect
Imperforate anus with a fistula between the distal
colon and urethra in boys or the vestibule of the
vagina in girls
Associated anomalies: VACTER-L
Vertebral
Anal
Cardiac
Tracheal
Esophageal
Renal
Limb

Male defects:
Perineal Fistula rectum opens in the perineum
Rectourethral bulbar fistula rectum
communicates with the lower posterior portion of
the urethra called bulbar
Female defects:
Perineal Fistula rectum opens in the perineum
Vestibular fistula rectum opens through an
abnormally narrow orifice located in the vestibule
of the genitalia immediately outside the hymen
Female defects:
Rectovaginal Fistula fistula between rectum and
vagina
Pathophysiology
Embryogenesis of malformations still unclear
Rectum and anus develop from hindgut or cloacal
cavity when lateral ingrowth of the mesenchyme
forms the urorectal septum in the midline.
Bladder&urethra septum rectum&anal canal
Cloacal duct small communications bet. these 2
Should close by 7
th
week of gestation

Pathophysiology
Ventral urogenital external opening forms first;
dorsal anal membrane opens later
Anal development
Fusion of the anal tubercles and an external invagination
(proctoderm) which deepens toward the rectum but
separated from it by an anal membrane
Anal membrane should desintegrate by 8
th
week
There are known risk factors that predispose
a person to have a child with imperforate
anus
A genetic linkage is sometimes present
CBC, blood typing and screening
Presence of meconium in the urine (males)
Filtering with a gauze pad
Urinalysis
If a patient has perineal fistulas, vestibular fistula, or a
single patent orifice, UA is unot indicated


Invertogram
Cross table lateral on prone position


Prone cross table buttocks with elevation
Abdominal Ultrasound
Visualized liver, gallbladder, kidneys
Obscured pancreas probably due to overlying
bowel gas
Undefined gallbladder
Bilateral hyrocoele, both testicles within scrotal
sac
Minimal ascites
No frank congenital problems on solid organs

Medical
NPO, IV hydration
Treat other life-threatening co-morbidities first
If urinary fistula is suspected, give broad-
spectrum antibiotics

Invertogram
< 1cm: Immediate Anoplasty
> 1cm: colostomy, then definitive surgery after a
few months
Males with meconium in urine: colostomy,
then definitive surgery after a few months

1 newborn per 5000 live births (US)
All patients with anorectal malformations
with no significant life-threatening co-
morbidities should survive
Prognosis best determined by the probability of
primary fecal incontinence