MALFORMASI ANOREKTAL (MAR)

OLEH:
DR. DION FAISAL
PEMBIMBING:
DR. ARIANDI S SP.B SP.BA

KASUS: BAYI, LAKI-LAKI USIA 2 HARI

LAHIR TANPA ANUS

SEJARAH

Paulus Aegineta (Abad ke-7): anus

imperforata. finger/knifepoint.
Scultet (1660): dilatasi stenosis ani
Cooke (1676): incisi & dilatasi,

sphincter muscles care

Bell (1787): incisi midline perineal
Dubois (1783): kolostomi inguinal.
Amussat (1835): proktoplasti perineal
Dieffenbach (1826): transposisi anus

Levitt MA, Pena A. 2007. Anorectal malformations. Orphanet Journal of

 Chassaignac (1856): probe through a stoma

diseksi perineal
Leisrink (1872), McLeod (1880), and Hadra

(1884): Incisi abdominal

Wangensteen and Rice (1930): imaging

(invertogram)
Rhoads, Pipes, Randall, Norris, Brophy, and

Brayton (1948-1949): Single-stage

abdominoperineal procedures.
Stephens (1953): preservasi m. puborectalis.
Pena (1980): posterior sagittal approach.
Georgeson (2000): anoplasti laparoskopik.

INSIDEN

1/4000 5000 kelahiran hidup, sedikit lebih sering pada

laki-laki.
Defek paling sering: MAR dengan fistula rektourethra
(laki-laki) & fistula rektovestibular (perempuan).
Anus imperforata tanpa fistula (5%), terkait dengan Down
syndrome.

DEFINISI & KLASIFIKASI

Definisi: Menggambarkan spektrum luas suatu

penyakit (disease), dapat terjadi pada laki-laki dan

perempuan, melibatkan anus distal dan rektum serta
traktus urinarius dan genitalia.
Klasifikasi:
Douglas Stephen (1954)
Pena (1980)
Wingspread (1984)
RSUD Dr. Soetomo Surabaya :
Levitt MA, Pena A. 2007. Anorectal malformations. Orphanet Journal of

KLASIFIKASI PURWADI

STEPHEN & SMITH

(1963)

PENA (1980)

Levitt MA, Pena A. IMPERFORATE ANUS AND CLOACAL MALFORMATIONS.

WINGSPREAD (1984)

Wakhlu AK. 1995. MANAGEMENT OF CONGENITAL ANORECTAL

MALFORMATIONS. Journal of Indian Pediatric. VOI.UME 32

KLASIFIKASI & TATALAKSANA

MALFORMASI ANOREKTAL PURWADI

ETIOLOGI

Remains unclear
Likely multifactorial
Komponen genetik
Autosomal dominan
Insiden MAR meningkat pada trisomy 21 (Down's

syndrome), 95% pasien trisomi 21 dan MAR memiliki

atresia ani tanpa fistula

HIGH DEFORMITIES
(SUPRA LEVATOR)
MALE VS FEMALE

Anorectal Agenesis

HIGH DEFORMITIES
(SUPRA LEVATOR)
MALE VS FEMALE

Rectal Atresia

INTERMEDIETE
DEFORMITIES
MALE VS FEMALE

Anal Agenesis

INTERMEDIETE
DEFORMITIES
MALE VS FEMALE

Anorectal Stenosis

LOW DEFORMITIES
(TRANS LEVATOR)
MALE VS FEMALE

At Normal Anal Site

LOW DEFORMITIES
(TRANS LEVATOR)
MALE VS FEMALE

At Perineal Site

LOW DEFORMITIES
(TRANS LEVATOR)
FEMALE

At Vulvar Site

MISCALLENOUS DEFORMITIES
MALE VS FEMALE

BUCKET HANDLE DEFORMITY

CLOACA

Kiri: Persistent cloaca perineum. Kanan bawah: Hidrocolpos

DIAGNOSIS
PEMERIKSAAN FISIK The vast majority of

lesions will be detected even after the most

cursory examination of the perineum.
Prenatal:
USG: anus normal (circular rim of
hypoechogenicity with a central linear
echogenic stripe). Dilatasi kolon,
oligohidramnion & highly distended vagina
anus imperforata

The transducer is moved down from an axial

section of the pelvis (A) through the urinary
bladder (BL) and sacral spine to the lower pelvis
(B) and then a tangential section of the
perineum showing the anus (C, arrows).

Neonatal (perineal examination):

Presence or absence of the anus
Presence of vaginal and urethral openings
Presence and exact position of the fistula
Size of the anal dimple and midline groove
Presence of a presacral mass.

VACTERL (vertebral, anal, cardiac, tracheaesophageal, renal, limb)

Flat perineum, associated with a

Meconium at the urethral
high anomaly
meatus, demonstrating presence of
a fistula

TUJUAN ASSESSMENT AWAL

Menentukan level malformasi, hubungannya dengan

muscular sphincter dan lokasi fistula.

Menentukan integritas sphincter dan persyarafannya.
Mendokumentasikan anomali lain yang mempengaruhi

survival.

ASSOCIATED ANOMALIES

Half case have associated anomalies.

Genitourinary anomalies (40-50%): crossed renal ectopia,

renal agenesis, duplex ureters, bladder diverticuli and

urachal remnants
Cardiovascular (30-35%): VSD/ PDA
Spinal cord tethering (25-30%)
Gastrointestinal anomalies (5-10%)
VACTERL (4-9%) anomalies.
Endo M et al. Analysis of 1,992 patients with anorectal malformations over the past two decades
in Japan. J Pediatr Surg. 1999;34:43541

PRONE, CROSS-TABLE LATERAL

RADIOGRAPH

Ashcraft 5th ed

the distance
between the gas
bubble within the
terminal colon and
the perineal skin
(air column in the
distal rectum)

Pubococcygeal (PC) line between the pubic symphysis and coccyx, and the ischial (I) line parallel at
the inferior aspect of the ischium. In the this example the terminal bowel gas extends to the I point
in a child with a rectoprostatic urethral fistula.

BABYGRAM

Distribusi gas
Vertebrae, sacrum, spinal anomalies
(spina bifida dan spinal
hemivertebrae)

USG

USG anal (perineum): pengganti invertografi, tidak perlu

menunggu 12 jam, operator dependen

Cloaca: 90% berhubungan dengan problem urologi, 50%

didapatkan hydrocolpos
Spinal ultrasound (neonatus sampai usia 3 bulan):

tethered spinal cord dan anomali spinal lain

Brantberg A et al. Imperforate anus: a relatively common anomaly rarely

diagnosed prenatally. Ultrasound Obstet Gynecol 2006; 28: 904910

Ultrasound scan showing dilatation of the bowel and intraluminal calcications in an 18-week fetus
with imperforate anus.

URINE SEDIMEN

Laki-laki
Klinis jelas tidak didapatkan fistula

MUSCLE STIMULATOR

PENATALAKSANAAN

Anus stenosis: Sondase dan dilatasi

(businator Hegar)
Anus Membranosa: incisi dan dilatasi
Anus vestibularis: stenosisdilatasi,

gagal cut back incision, gagal kolostomi

Atresia ani letak rendah: PSARP
Atresia ani letak tinggi: diversi (48 jam

pertama), definitif setelah rule over ten

KOMPLIKASI
Infeksi luka operasi
Striktur ani
Prolaps rekti

PENYULIT
Ileus obstruksi
Pneumonia aspirasi
Enterokolitis
Perforasi
Sepsis

REFERENSI

Holschneider AM, Hutson JM. 2006. Anorectal Malformations in Children.

German. Springer
Levitt MA, Pena A. 2010. IMPERFORATE ANUS AND CLOACAL MALFORMATIONS.

Ashcraft Pediatric Surgery. 5th ed.

Wakhlu AK. 1995. MANAGEMENT OF CONGENITAL ANORECTAL

MALFORMATIONS. Journal of Indian Pediatric. VOLUME 32

Endo M et al. Analysis of 1,992 patients with anorectal malformations over the

past two decades in Japan.J Pediatr Surg.1999;34:43541

Levitt MA, Pena A. 2007. Anorectal malformations. Orphanet Journal of Rare

Diseases

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