CHAPTER 104

Other Disorders
of the Anus and
Rectum, Anorectal
Function
Risto J. Rintala and Mikko P. Pakarinen

Anatomy
------------------------------------------------------------------------------------------------------------------------------------------------

The anal canal measures 2.5 to 4 cm in length (Fig. 104-1).1 It

is the area between the anal verge and the junction of the stratified cuboidal and columnar epithelium (dentate line).2 It is
lined by squamous epithelium in the lower anal canal below
which sebaceous glands and hair follicles arise but changes to
stratified cuboidal and, finally, columnar epithelium of the
rectum. Sensitive sensory receptors in this epithelium and
in the more proximal anal mucosa respond to a variety of
stimuli, permitting discrimination of solid, liquid, and gas.
The mucosa of the rectum meets the epithelial lining of the
anal canal at the dentate or pectinate line, marking the oral
extension of the anal columns and valves. High in the anal
canal, the mucosa forms four to six longitudinal folds.
The smooth muscle of the internal anal sphincter (IAS)
is continuous with the inner circular muscle of the rectum.
It becomes more prominent low in the anal canal. It is approximately 3 cm long and 5 mm thick.3 IAS is bound to voluntary

external sphincter and perianal skin by muscular strands. It is

involuntarily in a tonic state of contraction, providing at least
85% of the resting anal canal pressure that keeps the anal canal
closed.4 The IAS can increase contraction only slightly, but it
relaxes completely by reflex in response to rectal distention.5
This reflex, mediated by the myenteric plexus, is intrinsic and
thus remains independent from extrinsic innervation.
Both sympathetic and parasympathetic nerves innervate
the internal sphincter.6 Sympathetic innervation is primarily
excitatory, contracting the IAS, and is supplied by the lumbar
splanchnic nerves from L2 to L4 ganglia and by the hypogastric
nerves from the inferior mesenteric ganglion. a-Adrenergic
stimulation is excitatory, but b-adrenergic stimulation is
inhibitory. The continuous tonic state of IAS appears to be
mediated by excitatory fibers of both adrenergic and cholinergic innervation. Parasympathetic innervation comes from the
S2 to S4 ganglia through the pelvic nerves and is generally
inhibitory, causing the IAS to relax.7,8
The IAS also has an important intrinsic innervation, which
is responsible for reflex relaxation in response to rectal distention. These intrinsic nerves lie in intramural plexuses and in
the myenteric (Auerbach), deep submucosal (Henke), and
submucosal (Meissner) plexuses and are nonadrenergic and
noncholinergic in origin.6,7
The external anal sphincter is a striated muscle that is
partially under voluntary control. The muscle surrounds the
anus below the dentate line and is attached anteriorly to the
perineal body and posteriorly to the anococcygeal raphe.
The external anal sphincter has traditionally been divided in
three anatomic components: subcutaneous, superficial, and
deep. It is innervated by rami of the pudendal and perineal
nerves, which originate from sacral roots 2 to 4.9
Although capable of phasic contraction, the external anal
sphincter may also have tonic contraction.10 Unlike the IAS,
the tonic contraction of the external sphincter depends
on extrinsic efferent innervation. The phasic contractions
are born voluntary and involuntary; thus the external anal
sphincter provides part (10% to 15%) of the resting anal
sphincter tone.11
The pelvic floor muscles consist of the levator ani muscle
group, one part of which, the puborectal muscle, forms a sling
around the anorectal junction. Although a striated muscle, the
puborectalis remains in tonic contraction.12 This creates an
angle between the anus and the rectum, the anorectal angle,
which is 80 to 90 degrees at rest and during defecation more
obtuse, at 100 to 105 degrees.13 With coughing, straining, or
other sudden increases in intra-abdominal pressure, the puborectalis automatically increases its tonic contraction, hereby
maintaining the sharp anorectal angle that plays a significant
role in fecal continence.12 The levator ani muscle complex that
contracts in a vertical plane is shaped like a funnel that surrounds the rectum and tapers down to the anal canal, where
its fibers merge with the voluntary anal sphincter.

Physiology of Anal Continence

------------------------------------------------------------------------------------------------------------------------------------------------

The adaptive compliance of the colon with the retentive mechanism of the anorectum is required for fecal continence. The
simple anatomic impedence to the descending fecal mass
occurs because the distal end of the gastrointestinal tract is
1311

1312

PART VII

ABDOMEN

Sensory Elements

Motor Elements

Rectal wall
and stretch
receptors

Rectal wall
Levator ani

Puborectalis

Puborectalis
Striated muscle complex

Striated muscle
complex
Anal mucosa

Internal sphincter
Deep
Superficial

External
sphincter

Subcutaneous
FIGURE 104-1 The main anatomic components of the rectum
and anus.

not a straight tube. The angulations in the sigmoid colon and

the valves of Houston in the rectum impede the caudal movement of fecal contents. The 80-degree anorectal angle also
assists fecal continence.14 The longitudinal mucosal folds in
the anus also contribute to continence of semisolid or fluid
feces by the way they fold together, even when the internal
sphincter partially relaxes.
The anal sphincters play an important role in maintaining
continence, and both the voluntary external sphincter and the
involuntary internal sphincter have a resting tone. Fecal continence requires a normally functioning IAS, external sphincter complex, and levator funnel, as well as intact sensory input
from the rectum and anal canal.15,16 The rectum has stretch
receptors, which have an increasing sensitivity the more distal
they are sited. The anal canal is richly endowed with sensory
receptors for most modalities of sensation.17 These receptors
allow us to distinguish between flatus, fluid, and feces.
Gross continence, the ability to hold large volumes of solid
or liquid feces, is a function of the intact anorectal angle and
tonic contraction of both external and internal sphincter systems. Fine continencethe control of small volumes of feces
or flatusis the function of the coordinated action of the
sphincters. The distal 2 cm of the anal canal above and at
the dentate line is the critical site of fine continence.18 This
is the site where the sampling reflex, discrimination between
solid stool, liquid, or gas, is initiated.19

and is sampled by the exquisitely sensitive sensory receptors

in the anal mucosa, which allows evaluation of stool consistency and recognition of flatus. The need to defecate is appreciated, but this urge can be voluntarily inhibited. The external
anal sphincter and puborectalis can be contracted voluntarily
to abort the fecal expulsion. The rectum and colon stretch
compliantly, decreasing the intrarectal pressure and the urge
to stool.
As more stool is delivered to the rectum, the sensation increases and rectal waves intensify. The urge to defecate is
increased, and the reflex inhibition of the sphincters becomes
greater. The reflex suppression of the tonic contraction of the
external anal sphincter and puborectalis begins; if time and
place are appropriate, voluntary defecation can occur.
Young children have a shorter intestinal transit time than
older children, and this correlates with the more frequent
bowel movements in infants.20 Infants who are fed by breast
milk or cows milkbased formula have one to seven bowel
movements per day.21 In children between 1 and 4 years of
age, 85% pass stool once or twice per day.22 Normal English
school children23 have mean transit times of 26 hours and
constipated children of 80 hours. Healthy young adults have
transit times from 30 to 48 hours.24

Constipation
------------------------------------------------------------------------------------------------------------------------------------------------

Physiology of Defecation
------------------------------------------------------------------------------------------------------------------------------------------------

The defecation sequence is a complex combination of involuntary actions and voluntary accomplishments that are controlled by higher cerebral centers. The rectum fills gradually
by colonic action. The distension of the rectum stimulates
stretch receptors in the rectal wall and levator and induces
an initial contraction of the voluntary sphincter complex,
retrograde emptying of the distal rectum, and relaxation of
the IAS. This causes a sensation to desire to defecate that
increases in intensity as the rectum fills. Stool is temporarily
allowed to contact the sensitive mucosa of the anal canal

Constipation in children is a common condition, especially in

the Western world. Unresolved constipation can lead to fecal
retention and impaction, and finally to overf1ow incontinence. In the overwhelming majority of patients the exact
cause of constipation remains obscure; in this case the condition is called functional constipation.

DEFINITIONS
The consensus Rome III classification is most commonly used
in the diagnosis of functional constipation in children.25
Functional constipation in children is defined as constipation
not associated with congenital abnormalities, acquired

CHAPTER 104

OTHER DISORDERS OF THE ANUS AND RECTUM, ANORECTAL FUNCTION

diseases, or medication. The following criteria apply for children of all ages:
Two or more of the following must exist:
1. Two or fewer defecations in the toilet per week
2. At least one episode of fecal incontinence per week (after
acquisition of toileting skills)
3. History of retentive posturing or excessive volitional stool
retention
4. History of painful or hard bowel movements
5. Presence of a large fecal mass in the rectum
6. History of large-diameter stools that may obstruct the toilet
Both constipation and soiling are common. Soiling has
been reported in approximately 3% of children older than 4
years of age, and constipation accounts for at least 3% of all
medical and 25% of pediatric gastroenterology referrals.2629
More than 50% of constipated children have a familial incidence, and most studies suggest a male predominance. The
reported ratios range between 1.5:1 and 3:1.30,31
Because constipation during the neonatal period, usually
associated with distention and vomiting, is never functional,
anatomic or mechanical obstruction must be suspected. Most
(94% to 98%) full-term and most (76%) preterm normal
babies pass meconium during the first 24 hours after birth.
All normal babies (100% of full-term and 99% of preterm)
have a first stool with the first 48 hours of life.32 During the
first year of life, symptomatic constipation warrants an evaluation and organic causes for constipation should be ruled out.
During infancy, constipation is often initiated after dietary
manipulations, often the change from breast-feeding to bottlefeeding or the introduction of solid foods.33 Specifically, in
children anal fissure or perianal dermatitis with group A Streptococcus causes a vicious cycle of stool withholding and painful
defecation and chronic constipation. A suggested alternative
etiology is cows milk protein intolerance.34 Dietary fiber is
poorly associated with constipation except in older children.35
Constipated parents are more likely to have constipated
children.36 Slow transit constipation is a major problem in
adults and is probably important in a subset of children with
constipation.37,38 Psychologic problems are common in constipated children, but they are secondary to constipation in the
majority of cases.30,39

ACUTE CONSTIPATION
Acute constipation may be secondary to inactivity, changes of
environment or diet, or an anal fissure. Presentation as acute
abdominal pain is common. Acute constipation presenting
with abdominal pain is usually relieved by one single enema.
The management of acute constipation is usually straightforward, especially in infants and toddlers. Adding more water
to the diet and restriction of cows milk intake usually relieve
the symptoms. Older children and those who have an acute
anal fissure require bulk laxatives for a variable period of time.

CHRONIC CONSTIPATION
Persistent constipation, which does not rapidly respond to
dietary manipulation or simple laxative treatment, can be
defined as chronic. A child with chronic constipation commonly presents with fecal soiling. Organic causes that should
be taken into account in the diagnostic workup for chronic
constipation are summarized in Table 104-1.

1313

TABLE 104-1
Differential Diagnosis of Chronic Constipation: Organic
and Acquired Causes
Hirschsprung Disease and Allied Disorders
Internal sphincter achalasia
Intestinal neuronal dysplasia (hyperganglionosis)
Hypoganglionosis
Congenital Anomalies
Anal stenosis
Anterior perineal anus
Acquired Diseases
Chronic anal fissure
Chronic anal fistula
Crohn disease
Associated with Systemic Disease
Hypothyreosis
Hypercalcemia
Cerebral palsy and other neurologic impairment conditions
Uremia
Psychiatric Disease
Depression
Anorexia nervosa
Primary encopresis
Medication
Anticonvulsive drugs
Psychiatric drugs
Anticholinergic drugs

Studies of children with constipation and overflow soiling

show that 40% were never completely toilet trained and that
enuresis is an associated problem in more than 30%.28
Chronic constipation and soiling typically present between
ages 2 and 4 years40; however, up to 40% of the patients have
the onset of symptoms during the first year of life. The diagnosis of chronic constipation relies on history and clinical
examination. A detailed bowel history should focus on the
age at which constipation first occurs; the frequency and description of stools; and therapeutic interventions previously
attempted including any medications taken. Anticonvulsants,
diuretics, antacids, and supplemental iron preparations are
frequently associated with constipation. Family history can
be important, particularly a history of Hirschsprung disease,
cystic fibrosis, or familial constipation. The incidence of
clinical findings in patients with chronic constipation is
summarized in Table 104-2.
On clinical examination the childs abdomen is usually
nontender and rarely distended. Stool masses are frequently
palpable above the pubic symphysis and in the lower left abdomen. The perineum must be inspected carefully for the position and condition of the anus and the perianal skin, as well
as for soiling marks. The normal position of the anus must be
defined because malpositioning is a well-recognized cause of
constipation.41,42 Reisner and colleagues43 defined normal
values by using a ratio of the midanal to fourchette distance
and the fourchette to coccyx distance in the female and midanal to posterior scrotum distance and the posterior scrotum
to coccyx distance in the male. If the ratio is less than 0.34 in the
female (usual values: newborn, 0.44; age 4 to 18 months, 0.40)

1314

PART VII

ABDOMEN

TABLE 104-2
Clinical Features of Severe Functional Constipation
Age at Onset
0-1 yr
1-5 yr
> 5 yr
Boys-to-girls
Previous attempts to treat
Soiling
Unsuccessful toilet training
Pain at defecation
Abdominal pain
Occasional blood in stool
Poor appetite
Wetting
Primary psychopathology
Rectal prolapse

20-25%
70%
10-15%
1-3:1
80-90%
70-75%
70-80%
70-80%
50-60%
25-30%
20-30%
20-30%
15-20%
3%

Data from references 28, 30, 36, 52, and 53.

and less than 0.46 in the male (usual values: newborn, 0.58;
age 4 to 18 months, 0.56) the child should be investigated
carefully, especially if constipation is present. To differentiate
between anterior anus and perineal ectopic anus is often difficult, especially if the anterior position of the anus is associated with stenosis. Final diagnosis may require muscle
stimulation in general anesthesia.
Perianal sensation to rule out neurologic disorders can
be evaluated by stroking the perianal tissue gently with a
cotton-tipped applicator, watching for the anal puckering,
and ascent of the perineum. The childs underwear should also
be examined for soiling.
It is advisable to perform a digital rectal examination at least
once in a child with chronic constipation to rule out organic
obstructing causes. The fecal mass that fills the rectum may
have developed to a fecaloma that can be stone hard. The
rectorectal space must be examined to feel masses within
the hollow of the sacrum. The closing reflex should be seen
when the finger is withdrawn. The absence of either the perineal cutaneous or closing reflexes suggests an underlying
neurologic disorder.
If the clinical history and physical examination do not
suggest organic etiology, a trial of medical treatment can be
initiated. A small infant with a history of neonatal symptoms
and early onset constipation should undergo barium enema
without bowel preparation. An abnormal barium enema
should be followed by rectal biopsy and possibly anorectal
manometry to rule out Hirschsprung disease and allied disorders. In an older child without any history of significant
neonatal constipation a primary barium enema or biopsies
are not necessary44,45 before the onset of medical management. Barium enema and other imaging such as plain abdominal radiography, transit time studies, or magnetic resonance
imaging (MRI) are indicated in patients who have poor
response to appropriate medical treatment or abnormal clinical findings such as neurologic symptoms. Patients who have
a poor response to optimal medical therapy should undergo
also rectal biopsy and anorectal manometry to rule out rare
forms of dysganglionoses such as hypoganglionosis, intestinal
neuronal dysplasias, and internal sphincter achalasia.

Barium enema usually shows dilatation of the rectosigmoid

that extends to the anal canal. This rules out classic Hirschsprung disease but not internal sphincter achalasia.46,47 Plain
abdominal radiography may reveal spinal vertebral anomalies
in patients who have clinical findings suggesting a neurologic
disorder. In case of vertebral anomalies an MRI study should
be performed to rule out intraspinal pathology such as tethering and intraspinal lipomas.48 Transit time studies by radiopaque markers37,49 or radioisotopes38 have been used to
assess colonic motility in patients with poor response to standard medical management. These studies have revealed that
slow-transit constipation occurs in a significant proportion
of patients with recalcitrant constipation. The main methodological problem with transit studies in children is the lack
of standardized methods and normal values in healthy
children.
Anorectal manometry is useful only for the diagnosis of
Hirschsprung disease and internal sphincter achalasia. In both
these conditions the rectoanal relaxation reflex is missing.
In patients suffering from functional constipation, anorectal
manometry does not improve diagnostic or therapeutic
accuracy. Some constipated children with normal histology
also have manometric evidence of anal outlet obstruction
and paradoxically contract the sphincter complex with
straining, so-called rectoanal dyssynergy.46,5052

MANAGEMENT OF CHRONIC IDIOPATHIC

CONSTIPATION
The general approach to the management of a child with
chronic constipation includes the following steps39,53:
Provide parental counseling and education
Determine whether a fecal impaction is present
Disimpact the fecaloma if present
Initiate oral medication
Counseling and Education
Counseling and educating the family are the first steps in the
management. The pathogenesis of constipation needs to be
explained to the parents. If the patient has fecal soiling, the
involuntary nature of overflow incontinence needs to be clarified to the parents. Parents are encouraged to maintain a
consistent supportive attitude during the long period of treatment. Education of the child and parents, emotional support,
and a commitment to continue to see the family until normal
stooling is established are all important elements of the program.51,53,54 The patient and the parents need to be aware that
it may take 6 to 12 months or even years before a normal
stooling pattern is achieved.
Disimpaction
If the patient has fecal impaction, disimpaction is necessary
before initiation of oral maintenance therapy. A fecal mass
can be identified by physical examination in the lower abdomen, rectal examination, or radiographic methods. A typical
symptom of fecal impaction is overflow incontinence.
Disimpaction has been traditionally accomplished with bowel
washouts, but oral medication is effective, too.55,56
Oral disimpaction can be accomplished by high doses of
stimulant laxatives, docusate, mineral oil, and polyethylene
glycol-electrolyte (PEG) solutions.54,56 Osmotic laxatives such

CHAPTER 104

OTHER DISORDERS OF THE ANUS AND RECTUM, ANORECTAL FUNCTION

as lactulose or sorbitol can be used in combination with

other medication. Oral disimpaction is often associated with
abdominal pain and colic, as well as an initial increase in fecal
soiling.
Rectal washouts usually work faster than oral disimpaction.
It is, however, invasive and painful, especially in patients who
have associated anal pathology. Therefore rectal disimpaction
is contraindicated in children with anal fissure. Saline, docusate, mineral oil, or phosphate enemas are recommended
by different investigators.53,57,58 When rectal disimpaction
is used, it is essential that the number of enemas is kept minimal. Usually one to three washouts are required for complete
disimpaction. In recalcitrant cases manual evacuation under
general anesthesia may be considered.
Maintenance Therapy
The goal of maintenance therapy is to produce one to two soft
stools per day and prevent recurrent fecal impaction. This
ensures that the vicious cycle of hard stools and painful
defecation will be abolished. Treatment consists of dietary
interventions, laxatives, and behavioral modification. Dietary
changes are universally advised, particularly increased intake
of fluids and fiber. The role of fiber may not be significant in
children.35 Too much milk is discouraged.59
There is no evidence that any particular drug treatment
regimen is superior. Good compliance with the selected treatment is more essential. In the early phases of management
after the disimpaction, more effective medication is often required. Stimulant laxatives (Senna, sodium picosulfate)
should be used for short periods, as short as possible, and
should be replaced by less harmful therapies. Osmotic laxatives (lactulose, docusate, PEG) can be safely used for months
and years. A recent meta-analysis has shown that PEG is
superior to lactulose for childhood chronic constipation.60
Having achieved regular pattern of bowel movements, the
medication needs to be continued as long as needed. This
usually means months and sometimes years. A good thumb
rule is that the treatment continues as long as the patient
has had symptoms before the management. The dosage of
the medication needs to be tapered regularly; the goal is to
use a minimum effective dose.
Behavioral Therapy
Behavioral therapy varies with the age of the patient. In infants
and toddlers, behavioral therapy has no role; it is important
that too early and aggressive toilet training is discouraged.
In young children younger than 2 to 3 years of age, the toilet
should be avoided and diapers reinstituted as long as the child
is ready to go back to potty or toilet.53 Older children may
benefit from regular toileting routines after a major meal during the day. Praise, rewards, and a diary may contribute to a
successful outcome.55
Long-Term Outcome
There are few studies of the long-term results of the management of chronic idiopathic constipation.36,61 The reported
final cure rates after 5 years of follow-up range between
50% and 70%. A recent longitudinal follow-up study showed
that one third of children with chronic constipation continue
to have severe complaints of constipation beyond puberty.62

1315

Surgical Options for Chronic Constipation

The majority of children with chronic constipation improve
by appropriate medical therapy or with time. Most patients
also comply even with aggressive medical therapy. However,
a few children, despite optimal and maximal medical management, have persistent constipation, abdominal symptoms, and
soiling throughout and beyond childhood. There are no controlled studies in children devoted to the surgery of pediatric
idiopathic constipation.
For pediatric patients who are refractory to all medical therapy, there are some viable surgical options. It is essential that
organic causes of constipation are ruled out. The MACE procedure63 that has been originally used for neuropathic incontinence or incontinence following management of anorectal
anomalies has been successfully used also for idiopathic constipation.64,65 The MACE procedure can be easily reversed,
which may make it an attractive alternative for enemas and
laxatives, especially for pubertal and adolescent patients. Resection of the megarectum and megasigmoid has been performed for patients with functional constipation, but there
is a complete lack of controlled studies and longer-term
follow-up data. Moreover, high failure rates have been
reported following colon resections.66 Colostomy has been
used in selected patients with significant patient and parent
satisfaction.66,67

Functional Fecal Soiling Without

Constipation
------------------------------------------------------------------------------------------------------------------------------------------------

There is a small subgroup of children with fecal soiling who

are otherwise healthy without constipation or any other
organic or neuropsychiatric underlying cause for the incontinence.6871 A typical age of presentation is between 4 and
8 years of age. The main symptom is involuntary passage of
variable amounts of stool to the underwear one to several
times a day. The patients rarely soil at school or during sport
and social activities. Most have regular bowel actions. At least
one third of these patients suffer from daytime or nighttime
wetting.
The authors have encountered an increasing number of
such patients during the past decade.72 Most of these patients
had had extensive but unsuccessful therapies to treat constipation. No signs of neuropsychiatric disorders or myelopathy
in MRI were observed. Patients had normal barium enemas
and spinal radiographs. All had developed normally and went
to normal schools. The incidence of daytime or nighttime enuresis was 40%. The only measurable functional abnormality
was an isolated impairment of rectal sensibility at anorectal
manometry; sphincter performance was comparable with constipated control individuals. Treatment consisted of counseling, toilet training, and dietary modification. Some patients,
especially those with accompanying enuresis, benefit from
anticholinergic treatment with oral oxibutynin hydrochloride
(5 to 15 mg/day). Most patients improved with decreased
frequency of soiling. All the patients who have reached adolescence have experienced striking improvement of soiling.
The most important issue with this subgroup of patients with
encopresis is to keep in mind that childhood fecal soiling
is not always related to constipation.

1316

PART VII

ABDOMEN

Rectal Prolapse
------------------------------------------------------------------------------------------------------------------------------------------------

Rectal prolapse is a relatively common, usually self-limiting

condition in children. The peak incidence is between 1 and
3 years of age. Prolapse can be either partial or complete. In
partial prolapse the rectal mucosa protrudes only about 1 to
3 cm from the anal verge with characteristic radiating folds
from the center of the anal aperture. In complete prolapse,
the full thickness of the rectum is involved; 5 cm or more
of the rectum protrudes, and the prolapse is distinguished
by the circular folds of the mucosa (Fig. 104-2). There is significant controversy as to whether rectal prolapse in children
is partial or complete.

PATHOGENESIS AND DIAGNOSIS

The vast majority of patients suffering from rectal prolapse do
not have any predisposing factors. The children suffering from
idiopathic rectal prolapse are usually otherwise healthy. The
role of constipation as an etiologic factor is controversial; only
3% of patients suffering from severe chronic constipation have
rectal prolapse.30
Several organic conditions predispose to rectal prolapse.
Cystic fibrosis is associated with rectal prolapse.73 More than
a fifth of the patients with cystic fibrosis develop rectal prolapse.74,75 The neuropathic causes of complete rectal prolapse
excluding myelomeningocele are rare. Nevertheless, paralysis
of the levator ani with raised intra-abdominal pressure leads to
procidentia and prolapse. In ectopia vesicae there is wide
separation of the symphysis pubis and the puborectalis muscle, and this wide hiatus predisposes to prolapse of the pelvic
organs including the rectum. Besides severe malnutrition,
connective tissue diseases (e.g., Ehler-Danlos) and behavioral
disorders (e.g., Asperger) predispose to rectal prolapse.
Iatrogenic full-thickness rectal prolapse may occur following pull-through operations for high anorectal anomalies.
Much more common is mucosal prolapse that is usually not

FIGURE 104-2 Rectal prolapse in a 2-year-old boy.

circumferential.76 Rectal prolapse and mucosal ectopia were

much more common before the era of the PSARP procedure.77
Rectal polyps may be a leading point for a prolapse.
The diagnosis of rectal prolapse is usually based on history.
Most commonly a rosette of rectal mucosa is noted after defecation. The child complains that something comes out of the anus.
Usually the prolapse reduces spontaneously but must be sometimes reduced manually. In mild forms the prolapse comes out
occasionally following major straining or during diarrheal illness. The problem is more annoying and worrisome for the
patient and parents if the prolapse occurs after every defecation.
Usually the prolapse cannot be provoked when the child is
brought to consultation. Rectal examination is indicated to
rule out rectal polyps and ulcers. If there is a history of rectal
bleeding, colonoscopy may be necessary to look for higher
polyps or other lead points. Dynamic defecography is warranted at least when a prolapse is associated with rectal ulcer,
suggesting intussuscepting prolapse of the sigmoid colon or
accompanying enterocele.

TREATMENT
In acute prolapse, reduction may occur spontaneously on
standing up. If not, the prolapse must be reduced as soon
as possible. The parents often rush the child to a hospital
when the prolapse appears for the first time. The tip of the herniated bowel can usually be gently pushed into the anus.
If edema has formed, a gentle squeezing pressure may be
required. Reduction technique must be taught to the parents.
There is spontaneous cure in most cases of recurrent prolapse.78 In many cases the prolapse reduces spontaneously.
In cases without spontaneous reduction the parents can
reduce the prolapse gently if appropriately instructed. Accompanying constipation is treated with laxatives when present.
Local transanal treatments such as injections of the prolapse,
multiple linear thermocauterization to the mucosa, excision of
redundant mucosa, or insertion of a subcutaneous suture
around the anus are not tested in controlled trials.
Operation is indicated in rare cases with intractable prolapse
and may be considered in patients who are not spontaneously
cured in 12 to 18 months of follow-up. Patients older than
4 years of age require surgery much more often than younger
children. There are several surgical methods that have been
used with success for recurrent prolapse. We prefer laparoscopic suspension of the rectum to anterior sacrum with routine suture closure of the space between the rectum and the
vagina or the urinary bladder in order to avoid development
of enterocele.79 An additional resection of the sigmoid colon
may be performed in intussuscepting prolapse of the sigmoid
colon and in recurrent cases. Laparoscopic approach has been
successful in nearly 20 patients that have required surgery. The
procedure is associated with minimal postoperative pain and
short hospital stay. Patients benefit from laxative therapy during
the early postoperative period. Posterior sagittal approach with
muscle repair and suspension of the rectum to the sacrum,8083
posterior rectal plication,84 and Ekehorn rectosacropexy85
are also reported to be associated with a high cure rate.
Secondary operation is indicated for iatrogenic prolapse
after a pull-through operation in symptomatic patients.
Typical symptoms include bleeding and leak of mucus.
In patients with mucosal prolapse treatment involves excision

CHAPTER 104

OTHER DISORDERS OF THE ANUS AND RECTUM, ANORECTAL FUNCTION

of the mucosal ectopia and reconstruction of a skin-lined anal

canal with a local skin flap. Patients with a complete prolapse
require a repeat posterior reconstruction of the levator funnel
and external sphincter complex, as well as rectal suspension.

Anal Fissure
------------------------------------------------------------------------------------------------------------------------------------------------

Anal fissure is a longitudinal tear or ulcer in the distal anal

canal epithelium extending to the anal verge. Most acute
fissures heal spontaneously within a few weeks, but a proportion become chronic. Anal fissure is the most common
cause of hematochezia in childhood, and it is one of the most
common lesions to consider in the differential diagnosis of
anal pain. Anal fissures are common, although their exact
incidence in children is unknown.

1317

stools streaked with bright-red blood. Anal fissure is often

but not necessarily associated with constipation, which is
caused by fear of painful defecation.
The diagnosis is made by direct inspection. The typical
longitudinal tear distal to the dentate line can be visualized
by retracting the perianal skin gently away. No further diagnostic modalities are necessary. The most common location
of idiopathic anal fissure is posterior midline, but especially
in infants it may be found anywhere in the anal circumference.
In female infants a common site of anal fissure is the anterior
midline. A sentinel pile or skin tag at the area of the fissure
is associated with chronic or subchronic fissure. Atypical
fissures may be multiple and often off the midline and are
commonly large and irregular. Atypical appearance of fissure
should initiate further investigations including biopsy,
cultures, and colonoscopy to rule out Crohn disease, immunodeficiency states, tuberculosis, venereal infection, and
malignancies.

PATHOGENESIS
Pathogenesis of idiopathic anal fissure is still incompletely
understood, and it may differ in adults and children.86 Anal
fissures in childhood are often associated with secondary
constipation due to painful passage of stools. The classic concept of mechanical tear caused by hard stools as a primary
causative factor may be too simple and outdated. However, deliberate avoiding of defecation does cause rectal distension
and leads to decreased rectal sensation, which in turn, results
in infrequent, bulky, and hard stools that prevent healing of
fissure. Fear of painful defecation may lead to fecal retention
and gives rise to a vicious circle.
There is a widely accepted theory on the pathogenesis of
anal fissure in adults.86,87 According to this theory increased
internal sphincter pressure and muscle spasm lead to impaired tissue perfusion and finally epithelial ulceration. Spasm
of internal anal sphincter is so severe that the pain caused by
fissure is thought to be due to ischemia. The most common
site of idiopathic anal fissure is posterior midline, which is less
vascularized than other areas of the anal canal. Anal canal resting pressure is increased in patients with anal fissure. Decrease
of anal canal pressure after surgical or pharmacologic sphincter relaxation is accompanied with improved perfusion of
anoderm and healing of chronic fissures. Currently, it is unknown whether this theory also applies to pediatric patients.
In children a vast majority of idiopathic anal fissures heal
without any specific therapy. This may be due to relatively
better tissue perfusion of the anal canal, greater regenerative
capacity in general, or different pathogenesis in children than
in adults. An unhealed fissure may become inflamed due to
bacterial infection and chemical and mechanical irritation.
As a result of long-standing inflammation, chronic anal fissure
may have hypertrophied anal papilla proximally and a sentinel
skin tag distally. This kind of chronic anal fissure is only rarely
seen in children and should raise the suspicion of underlying
Crohn disease.88

DIAGNOSIS
Anal fissure may occur in any age. Typical age of presentation
is around 2 years. Most often anal fissures present with bright
red rectal bleeding that may be associated with painful defecation. The child may cry with bowel movements and have

TREATMENT
Most idiopathic anal fissures in children heal without any
specific treatment in a few months.89,90 Only symptomatic
fissures require treatment. If fissure is associated with constipation and/or painful defecation, stool softening with dietary
modification and bulk laxatives is indicated. Lubricants ease
painful passage of stools. The goal is to interrupt the vicious
circle of painful defecation, fecal retention, hard stools, and
prevention of healing of fissure. As expected, most fissures respond promptly to stools softening and heal in several
weeks.89 Hematochezia stops when fissure heals. Occasionally a child presents with typical history after the symptoms
have disappeared and the fissure has healed. Initially, these
patients may be treated expectantly unless no abnormal
clinical signs are present and hematochezia has not recurred.
Botulinum toxin injection into sphincter muscles in order
to overcome increased pressure is a novel treatment for
chronic fissures. Quick and effective healing has also been
reported in children.91 We use botulinum toxin injections into
the internal part of the sphincter complex with a dose of
15-25 U, depending on the patients age, into each of the four
quadrants. Usually healing occurs in several weeks and injections may be repeated in refractory cases. After encouraging
initial results in adults, several recent randomized placebocontrolled trials have assessed efficiency of topical glyceryl
trinitrate in anal fissure in children.89,90,92,93 Two studies
reported faster healing of fissures and relief of symptoms in
children treated with glyceryl trinitrate,90,93 whereas no benefit was found in one.89 Few children experienced temporary
incontinence, and none reported headache during glyceryl
trinitrate treatment.89,90,93 Taken together, topical glyceryl
trinitrate for anal fissures is only marginally better than
placebo.92
Surgical therapies reported for treatment of anal fissure
in children include fissurectomy, anal dilatation under general
anesthesia, and lateral internal sphincterotomy.94,95 Lateral
subcutaneous sphincterotomy also appears to be an effective
procedure in children.94 Fissure cure rates (80%) after fissurectomy combined with laxatives are comparable with simple
laxative therapy.89,95 Anal dilatation causes unpredictable
degree of sphincter damage and should be avoided. In adult
patients, lateral sphincterotomy is associated with an

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PART VII

ABDOMEN

incontinence rate of 10%.96 Anal stretch has a significantly

higher risk of minor incontinence than sphincterotomy.96
Outcomes of different surgical procedures for fissures are
poorly characterized in children. Thus lateral internal sphincterotomy should be reserved for those rare children whose
anal fissure has progressed to a real chronic fissure after treatment with botulinum toxin has failed. In these cases a biopsy
should be obtained to rule out possible Crohn disease.

Perianal Streptococcal
Dermatitis
------------------------------------------------------------------------------------------------------------------------------------------------

Perianal streptococcal dermatitis is a common cause of anal

complaints (e.g., pain, itching, anal discharge, constipation)
in preschool-aged children. The clinical finding of sharply
demarcated wet perianal erythema is usually characteristic
(Fig. 104-3). A positive culture of group A or B b-hemolytic
streptococci from a perianal swab confirms the diagnosis.
The treatment includes oral antibiotics for 10 to 14 days
with penicillin V or cephalosporin and topical antimicrobial
therapy.97

Perianal Abscess and Fistula

in Ano
------------------------------------------------------------------------------------------------------------------------------------------------

Perianal abscess is not uncommon in small infants. The vast

majority of patients are male.98 A congenital etiology has been
suggested for infant anal fistulas.99,100 A proposed relationship to androgens resulting in congenital deep, epithelialized
crypts may explain the predominant occurrence in male
infants.100,101 A typical presentation is a perianal abscess in
a child younger than 12 months (Fig. 104-4), in the majority
before the age of 6 months. After initial incision the condition
may progress to or recur as an anal fistula. The incidence of
fistula formation in patients with perianal abscess may be as
low as 10% to 20%.102,103 The fistula may present alone without preceding perianal abscess. The fistula is typically

FIGURE 104-3 Perianal streptoccoccal dermatitis.

FIGURE 104-4 Typical perianal abscess in a male infant.

subcutaneous and straight. It usually traverses from the

affected crypt through the subcutaneous external sphincter
to the perianal skin. The fistulas are usually distributed evenly
around the anal circumference. Multiple lesions occur in 15%
to 20% of cases (Fig. 104-5).103,104
The traditional management of perianal abscess is incision
and drainage. This is associated with a significant recurrence
rate.104,105 However, at the end of the day most abscesses are
cured by expectant treatment only.104,105 Fistula-in-ano has
been considered as an indication for surgical treatment. The
traditional method has been identification of the affected anal
crypt and fistulotomy by deroofing of the fistula tract. Recurrent fistulas occur in 10% to 20% of cases. Recent reports
have advocated expectant treatment for asymptomatic

FIGURE 104-5 Bilateral fistula-in-ano. The probe passes straight from

the skin opening to the corresponding anal crypt.

CHAPTER 104

OTHER DISORDERS OF THE ANUS AND RECTUM, ANORECTAL FUNCTION

1319

fistula-in-ano; most fistulas heal within 12 to 24 months

without further sequelae.104,105
Fistulas in older children or adolescents are cryptoglandular or associated with inflammatory bowel disease, mainly
Crohn disease. Crohn disease should be ruled out in all
children who present outside the typical age groups, infants
and adolescents. Treatment of adolescent fistula-in-ano
should be along the same lines as in adults. The fistulous tract,
once identified, is either incised and left open to granulate or
excised with primary closure of the defect.

Vascular Malformations
------------------------------------------------------------------------------------------------------------------------------------------------

The classifications of intestinal vascular malformations have

been confusing because different labels are laid on similar lesions without knowledge of their clinical and biologic properties. The classification of vascular malformations by Mulliken
and Glowacki106 is based on biologic properties of the lesion.
The classification distinguishes between hemangiomas that
are true neoplasms and usually regress spontaneously, and
vascular malformations, which are nonproliferative lesions
that do not regress. Intestinal bleeding from vascular malformations in children is rare. The most common sites are distal
colon and rectum.107 The vascular anomalies in the distal
bowel are usually venous malformations and not hemangiomas as previously thought.108 In the minority of cases the
vascular lesion is part of a systemic disease such as KlippelTrenaunay (congenital varicose veins, cutaneous hemangiomas,
and ectatic hypertrophy of the lower limbs) and Osler-RenduWeber (multiple telangiectasia) syndromes.
A typical symptom of rectal vascular malformations is recurrent hematochezia that may sometimes be profuse. The patient may also present with hemorrhoids. The diagnosis of
vascular anomalies may be difficult. In the distal bowel endoscopy may show findings that suggest localized inflammation.
Dilated vessels are rarely visible. MRI and angiography are the
best methods to diagnose and localize intestinal vascular lesions. Nonoperative methods may be used to control bleeding,
but permanent cure is best achieved by complete resection of
the lesion. Lesions that extend to the low rectum and anal canal are best treated by endorectal pull-through and colo-anal
anastomosis.109,110 This sphincter-saving operation eradicates
bleeding episodes for long periods of time, if not permanently.

Hemorrhoids
------------------------------------------------------------------------------------------------------------------------------------------------

Hemorrhoids are uncommon in children unless in those with

portal hypertension. One third of the children with portal hypertension have hemorrhoids. Hemorrhoids are more common in patients with extrahepatic portal hypertension than
in those with intrahepatic disease.111 Symptomatic hemorrhoids, however, are uncommon. Hemorrhoids in children
may be associated with rectal vascular malformations.
Clinically detectable internal hemorrhoids with external
extension occur also in otherwise healthy children but are rare
(Fig. 104-6). We have seen approximately one to two healthy
children with internal and external hemorrhoids per year
during the past 15 years. Usually there are no symptoms,
but the child or parents have noticed something to protrude

FIGURE 104-6 Hemorrhoids in a 5-year-old boy, without any underlying

conditions. Note the typical adult type piles at 4, 7, and 11 oclock.

from the anal opening. A more common finding, especially

in constipated children, is a prominent venous plexus around
the anal opening. This is a common source of rectal bleeding
in constipated children. The venous sinuses of this venous
plexus may rarely thrombose, causing similar symptoms as
in adults with acute thrombosis of external hemorrhoids.
Adult-type hemorrhoids begin to occur in adolescents
and may be complicated by thrombosis of the external part
of piles.
In otherwise healthy children hemorrhoids do not require
surgical therapy. Major bleeding does not occur. Symptomatic
patients with portal hypertension may require treatment.
Banding or sclerotherapy controls the symptoms in most
cases.112

Solitary Rectal Ulcer

------------------------------------------------------------------------------------------------------------------------------------------------

Solitary rectal ulcer syndrome (SRUS) is a chronic, benign

disorder characterized by hematochezia, mucous discharge, tenesmus, and local perianal pain. It is rare in children but should
be kept in mind in patients with local anal symptoms.113,114
In children the macroscopic finding at endoscopy is
a thickened and edematous lesion that may have an ulcerative
or polypoid appearance in the anterior rectal wall 2 to 5 cm
above the anal verge. We have encountered 12 cases in the past
15 years. Some patients have a feeling of incomplete evacuation
with frequent visits to the toilet associated with chronic
straining at stool. Rectal or internal rectosigmoid prolapse
has been reported to occur in a significant percentage of
cases.40 According to our experience, conservative management with stool softeners and local steroid suppositories is
successful in most children. Open or laparoscopic rectopexy113,115 has been suggested to correct the external or internal rectal prolapse that is often associated with SRUS; three
of our patients have required rectopexy for recalcitrant
symptoms.

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PART VII

ABDOMEN

Infantile Proctocolitis

Sexual Abuse

------------------------------------------------------------------------------------------------------------------------------------------------

------------------------------------------------------------------------------------------------------------------------------------------------

Apart from anal fissure, the most common cause of hematochezia in infants younger than 3 months of age is eosinophilic
proctocolitis. The infantile proctocolitis typically presents at
the age of 3 to 4 weeks with fresh blood streaks mixed in
stools. The stools often contain mucus. Usually there are no
other symptoms, and the growth and development of the
infant is normal.116 Colonoscopy shows colitis that is often
patchy and rarely extends beyond the left colon. Histology
reveals marked eosinophilic infiltrate. Some patients may also
have an elevated eosinophilic count in peripheral blood.
Allergic etiology has been suggested because of these findings
but is found in a minority of cases.117 The condition is selflimiting, and symptoms usually subside within a few weeks.
Diet change has been also reported to be helpful in reversing
the symptoms.118

Child sexual abuse is a common and worldwide problem. In

Europe the incidence appears to be 6% to 36% of girls and
1% to 15% of boys younger than 16 years.122 Sexual abuse
rarely causes death, but its consequences can be serious and
persist through adulthood. In child sexual abuse the significance of findings in the vagina and hymen are well recognized.
In the context of anal abuse the findings are more controversial and difficult to verify.
Hobbs and Wynne123 stated that dilatation and reflex anal
dilatation are not seen in normal children and are signs of
abuse. Reflex anal dilatation (even gross) was found on routine
examination in 28 of 200 children (14%) examined consecutively in community health clinics, a pediatric outpatient
clinic, a district hospital, and a rectal clinic.124 Constipation
or feces in the rectum, without associated sexual abuse,
may often produce gaping of the anus on separation of the buttocks.125 Hobbs and Wynne126 also suggested that an anal fissure was a sign of abuse in 53% of 143 cases quoted. Pierce127
found that the majority of children with strong or definite history of anal abuse had anal fissures or scars. However, an anal
fissure is far too common a finding in routine clinical practice
to be regarded as a cause for suspicion of sexual abuse.128
Obvious laceration, bruising around the anus or inner thighs,
and scratches, especially with a suspicious or definitive history of
abuse, are more conclusive. This sort of forensic evidence is
rarely found in children because there is usually a significant
time lapse between the abuse and medical examination.
If a child displays total passiveness and indifference to
physical examination, or to inspection and examination of
the anus, with no attempt to withdraw or tighten the striated
muscle complex when a rectal examination is attempted, the
clinician should be alert to the possibility of sexual abuse.
Perianal warts caused by the human papillomavirus should
always raise the possibility of sexual interference because this is
the most likely mode of transmission.129,130 Although many studies suggest a high association with sexual abuse (60% to 90% of
cases), recent studies have questioned this association, particularly in infants. Parents of children with condylomata often have
warts on nongenital skin, and vertical transmission between
mother and child has been well documented. The presence of condyloma acuminata in infants younger than 1 year of age may
represent vertical transmission from the mother; older children
must be treated with a high index of suspicion for child abuse.

Proctalgia Fugax
------------------------------------------------------------------------------------------------------------------------------------------------

Proctalgia fugax (PF) is a benign painful rectal condition that

is defined as intermittent, recurring, and self-limiting pain
in the anorectal region in the absence of organic pathology.
There was also thought to be a male preponderance; however,
more recently a female preponderance is reported.119 The
onset of symptoms is usually at school age or adolescence.
The etiology of proctalgia fugax is unknown. Spasm of the anal
sphincter complex is the most commonly suggested etiologic
mechanism.
Rome III criteria define proctalgia fugax as recurrent
episodes of pain that localize to the anus and lower rectum.
The episode lasts from seconds to minutes, and there is no
pain between episodes.120 The condition is uncommon in
children; the authors see approximately one to two new
patients per year with proctalgia fugax. It is essential to rule
out organic causes for anorectal pain before diagnosis of proctalgia fugax is made. Proctalgia fugax in children is a selflimiting condition that, however, may need treatment if
episodes of pain are frequent and long lasting.
There no evidence-based management protocol for
proctalgia fugax, but in most cases topical treatment with
glyceryl nitrate cream or oral spasmolytics is helpful. Other
options are oral clonidine or inhaled salbutamol. In recalcitrant cases local botulinum toxin injections may be
helpful.121

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