Imperforate Anus 309

BASIC INFORMATION  In females, the fistula may open at the  Repair without colostomy based on the
posterior vestibule or vaginally. specific clinical presentation and asso-
 Focus on search for associated abnormal-

Section I
DEFINITION ciated abnormalities
Imperforate anus is a congenital abnormality ities (VACTERL).
 Vertebral abnormalities occur in 33% of ACUTE GENERAL Rx
with a lack of an anal opening of proper size
patients with anal atresia.  Stabilization of the newborn with intrave-
and location. Two types are defined by the
location of the rectum in relation to the pubo- ▪ Spinal dysraphism nous fluids and normalizing electrolytes
▪ Tethered cord  Broad-spectrum antibiotics to prevent uri-
rectalis sling:

DISEASES AND DISORDERS

 High imperforate anus—rectum ends ▪ Hemivertebrae nary tract infection if a fistula present
above the puborectalis sling ▪ Hemisacrum
▪ Sacral dysplasia CHRONIC Rx
 Low imperforate anus—rectum traverses
 Cardiovascular malformations (12% to  Constipation—dietary changes, bowel regi-
the puborectalis sling in the proper position
22%) ment, stool softeners, MiraLax, enemas,
SYNONYMS ▪ Most commonly tetralogy of Fallot or and sometimes anal dilation are used to
Anal agenesis ventricular septal defect help manage the problem (see Constipation
 Gastrointestinal malformation (10%) in Diseases and Disorders [Section I]).
Anal atresia
▪ Tracheoesophageal fistula  Dysfunctional voiding—bathroom regi-
Covered anus
▪ Duodenal obstructions ment and medications are often helpful.
ICD-9-CM CODE ▪ Malrotation
751.2 Imperforate anus ▪ Intestinal atresia DISPOSITION
▪ Annular pancreas  Complications are more common with
EPIDEMIOLOGY & ▪ Omphalocele higher lesions and may involve lifelong
DEMOGRAPHICS ▪ Esophageal atresia monitoring.
 One newborn per 5000 live births  Renal (other GU tract) malformation:  Constipation should be aggressively treated
 Increased incidence in families with asso- 50% of patients with laxatives.
ciated syndromes  Limb abnormalities  Fecal incontinence:
 Fifty percent to 60% of patients with  Seventy-five percent of patients will have
imperforate anus have VACTERL (Ver-
ETIOLOGY voluntary bowel movements, but one
tebral, Anal, Cardiac, Tracheoesopha-  Unknown half of these patients will still have
geal fistula, Renal, and Limb encopresis.
abnormalities). Diagnosis is based on DIAGNOSIS  Twenty-five percent of patients will have
anomalies and normal karyotype. total incontinence.
 Newborns with high lesions are at LABORATORY TESTS  Voiding dysfunction is seen, especially in
increased risk for associated abnormal-  Complete blood cell count those with sacral abnormalities.
ities.  Electrolytes REFERRAL
 No racial differences noted  Urinalysis to evaluate for meconium and
 Overall male-to-female ratio is 1.5:1.  Pediatric surgeon
renal disease
 High lesions are more common in males  Pediatric gastrointestinal specialist
 Blood type and screen for surgical needs
1.8:1.  Other subspecialty consults dependent on
 Low lesions have equal male-to-female IMAGING STUDIES associated abnormalities
ratio.  Plain film of the abdomen in 12 to 24
 Usually noted during the newborn exam, hours to evaluate gas pattern. PEARLS &
but may present later if a cutaneous fistula  To best visualize gas in the distal rectum CONSIDERATIONS
is present lateral x-ray in the prone position with
the pelvis elevated COMMENTS
CLINICAL PRESENTATION  Lumbosacral films to evaluate vertebrae  If imperforate anus noted must look for
History  Ultrasound or magnetic resonance imag-
 Newborn: associated abnormalities
ing of spine to evaluate for spinal anoma-  Even if stool is recorded in newborn nurs-
 Failure of newborn to pass stool during lies ery it is important to look for anal location
the first 24 hours of life  Renal ultrasound and potential voiding and anatomy
 Meconium in the urine (due to an enteric- cystoureterogram to evaluate for renal and
ureteral or enteric-vesicular fistula) other GU anomalies PATIENT/FAMILY EDUCATION
 Older child:
 Chronic constipation The Pull-thru Network web site is available at
 Abdominal distension TREATMENT www.pullthrough.org
 Enterocolitis
NONPHARMACOLOGIC
Physical Examination THERAPY
 Inspect perineum for: SUGGESTED READINGS
 Location and size of the anal opening  Nothing by mouth Beals D: Imperforate anus. Emedicine. Available at
 Presence or absence of an anal wink  After imaging studies obtained—bowel de- http://emedicine/ped/topic1171.htm
 May need to wait 24 hours for intra- compression Pena A et al: Advances in the management of anor-
luminal pressure to build up in order to  Surgical approach to high lesions involves ectal malformations. Am J Surg 180(5):370,
three steps: 2000.
force meconium through a fistula Shaul DB: Classification of anorectal malforma-
 If no anal opening is present, careful inspec-  Diverting colostomy
 A later repair tions—initial approach, diagnostic tests, and
tion of the genitourinary (GU) area should colostomy. Semin Pediatr Surg 6(4):187, 1997.
be performed to evaluate for a fistula.  Colostomy closure
 In males, a fistula may be found in recto  Approach to low lesions usually involves: AUTHOR: SUZANNE FREDRICKSON
MULLIN, MD
prostatic or rectourethral.