www.elsevier.com/locate/jpedsurg

Imperforate anus and colon atresia in a newborn

Sean Goodwin, Marc Schlatter*, Robert Connors

Department of Pediatric Surgery, DeVos Children’s Hospital/Spectrum Health, Pediatric Surgeons of West Michigan, Grand

Rapids, MI 49503, USA

0022-3468/$ – see front matter D 2006

doi:10.1016/j.jpedsurg.2005.11.055

* Corresponding author.

Index words:Imperforate anus;

Colon atresia;

Multiple intestinal atresias

Abstract Imperforate anus is an uncommon congenital anomaly. Colon atresia is even more infrequent.

This report describes a newborn with the simultaneous occurrence of these 2 anomalies, a condition that

is exceedingly rare.

D 2006 Elsevier Inc. All rights reserved.

Imperforate anus is a congenital anomaly that occurs in

approximately 1 in 4000 to 5000 live births. Colon atresia

is much more uncommon, being reported in only 1 in

20,000 births. We describe an unusual case of these

2 conditions occurring in the same infant, although the

colon atresia was not recognized initially after repair of the

imperforate anus.

1. Case report

A Hispanic male newborn was delivered via a planned

repeat cesarean delivery to a 34-year-old, gravida 4, para 4

woman at 40 weeks’ gestation. His Apgar scores were 5 at

1 minute and 9 at 5 minutes, and he weighed 3025 g. Several

anomalies were noted on physical examination, including

low-set ears, a high-arched palate, a coloboma, a small

cataract of the left eye, a small phallus, and an imperforate

anus. The presence of a well-formed sacrum and midline

perineal mound suggested a low imperforate anus.

An abdominal x-ray was obtained (Fig. 1). Evaluation of

midline structures included cardiac, renal, and cranial

ultrasounds, which were normal. Because of his physical

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examination findings, a magnetic resonance imaging of the

brain was obtained and revealed bilateral optic nerve

hypoplegia and an enlarged anterior pituitary gland.

Laboratory studies evaluating anterior pituitary function

were normal. Normal chromosomes were identified.

The patient was taken to the operating room within

the first day of life for a posterior sagittal anorectoplasty.

A muscle stimulator demonstrated a well-developed sphinc-

ter mechanism. The rectal atresia was found approximately

1 cm deep to the perineal skin. No communication with

the urinary tract was identified. A small amount of white

mucus was encountered upon opening the rectum. A

neoanus was created that enabled the easy passage of a

Hagar no. 12 dilator.

Postoperatively, the patient failed to pass meconium over

the next 4 to 5 days. Abdominal x-rays demonstrated a

markedly dilated loop of bowel transversely in the upper

abdomen (Fig. 2). A contrast enema was performed, which

demonstrated a colonic obstruction near the splenic flexure

(Fig. 3). The patient returned to the operating room for an

exploratory laparotomy. An atresia of the distal transverse

colon with massive dilatation of the proximal colon was

discovered. An extended right hemicolectomy with a

primary hand-sewn ileocolic anastomosis was carried out.

The patient demonstrated bowel function on postoperative

Journal of Pediatric Surgery (2006) 41, 583–585

Fig. 1 Initial postnatal abdominal x-ray.Fig. 3 Detail of colon atresia on barium enema.

S. Goodwin et al.584

day 7, and feedings were readily advanced to goal. The

patient was eating and stooling well and demonstrated good

weight gain at the time of discharge on day of life 26.

2. Discussion

The incidence of imperforate anus is 1 in 4000 to 5000 live

births. Colon atresia occurs in only 1 in 20,000 live births.

Seeing the 2 anomalies in combination is extremely rare.

The etiology of imperforate anus is unknown [1-3].

There is some evidence for a sex-linked genetic predispo-

sition with a slight male predominance, yet no specific

Fig. 2 Postoperative day 5 abdominal x-ray.

genetic mutation has been identified [1]. Imperforate anus is

often associated with the VACTERL (vertebral, anal,

cardiac, tracheal, esophageal, renal, and limb) anomalies

prompting further evaluation postnatally. Cardiac and renal

anomalies are most common, and gastrointestinal anomalies

other than esophageal atresia are not typically found. High

imperforate anus malformations demonstrate a higher

incidence of other anomalies and have traditionally been

treated with an initial diverting colostomy at birth, followed

by a posterior sagittal anorectoplasty within the first year of

life. Low imperforate anus malformations, as in our patient,

can be definitively repaired shortly after birth [4]. Laparos-

copy-assisted repairs have also been described [5].

The incidence of intestinal atresias varies depending

upon their location in the gastrointestinal tract. Small bowel

atresias, presumed to be the result of a prenatal mesenteric

vascular event, affect the terminal ileum most often and

occur in 1 in 300 to 400 live births in the United States [1].

The incidence of colon atresia is widely referenced to be

1 in 20,000 live births [1]. Multiple areas of small bowel

atresia have been reported to occur in 14% of cases, nearly

all being small bowel [6]. A familial pattern of multiple

atresias affecting the stomach, duodenum, small bowel,

and colon and a high degree of consanguinity were observed

in a group of people near Quebec, raising the possibility of a

rare autosomal recessive gene expression in that unique

situation [7].

Imperforate anus and colon atresia in combination is

extremely rare. A review of the English literature found only

5 previously reported cases [8-12]. None of these previous

reports were from the United States. The presence of white

mucus in the atretic rectum noted during the repair of the

imperforate anus ideally should have prompted an earlier

radiographic study to rule out a more proximal obstruction.

Diagnosis of an isolated colon atresia is usually made in the

Imperforate anus and colon atresia in a newborn 585

presence of a bowel obstruction, followed by radiographic

confirmation revealing dilated loops of bowel with a gasless

distal colon and rectum. A contrast enema will confirm the

diagnosis by demonstrating a distal microcolon that is cut

off from the dilated proximal loops of bowel. We obtained a

contrast enema on postoperative day 5 when the patient

failed to stool and an abdominal film revealed a dilated loop

of bowel (Fig. 2). The patient did well clinically from a

gastrointestinal standpoint, but his other multiple anomalies

may require long-term medical follow-up care. This case

highlights the very rare simultaneous occurrence of both an

imperforate anus and colon atresia and underscores the

importance of a high index of suspicion for more proximal

atresias when mucus and no meconium are encountered

during initial anorectoplasty.

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