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 choliner-
gic 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 disten-
tion. These intrinsic nerves lie in intramural plexuses and in
the myenteric (Auerbach), deep submucosal (Henke), and
submucosal (Meissner) plexuses and are nonadrenergic and
CHAPTER 104 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
Other Disorders perineal body and posteriorly to the anococcygeal raphe.
The external anal sphincter has traditionally been divided in
three anatomic components: subcutaneous, superficial, and
of the Anus and deep. It is innervated by rami of the pudendal and perineal
nerves, which originate from sacral roots 2 to 4.9

Rectum, Anorectal 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
Function 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
Risto J. Rintala and Mikko P. Pakarinen 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
Anatomy angle between the anus and the rectum, the anorectal angle,
------------------------------------------------------------------------------------------------------------------------------------------------
which is 80 to 90 degrees at rest and during defecation more
The anal canal measures 2.5 to 4 cm in length (Fig. 104-1).1 It obtuse, at 100 to 105 degrees.13 With coughing, straining, or
is the area between the anal verge and the junction of the strat- other sudden increases in intra-abdominal pressure, the pub-
ified cuboidal and columnar epithelium (dentate line).2 It is orectalis automatically increases its tonic contraction, hereby
lined by squamous epithelium in the lower anal canal below maintaining the sharp anorectal angle that plays a significant
which sebaceous glands and hair follicles arise but changes to role in fecal continence.12 The levator ani muscle complex that
stratified cuboidal and, finally, columnar epithelium of the contracts in a vertical plane is shaped like a funnel that sur-
rectum. Sensitive sensory receptors in this epithelium and rounds the rectum and tapers down to the anal canal, where
in the more proximal anal mucosa respond to a variety of its fibers merge with the voluntary anal sphincter.
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 Physiology of Anal Continence
canal, the mucosa forms four to six longitudinal folds. ------------------------------------------------------------------------------------------------------------------------------------------------

The smooth muscle of the internal anal sphincter (IAS) The adaptive compliance of the colon with the retentive mech-
is continuous with the inner circular muscle of the rectum. anism of the anorectum is required for fecal continence. The
It becomes more prominent low in the anal canal. It is approx- simple anatomic impedence to the descending fecal mass
imately 3 cm long and 5 mm thick.3 IAS is bound to voluntary 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” Internal sphincter
Anal mucosa Deep
External
Superficial
sphincter
Subcutaneous
FIGURE 104-1 The main ana-
tomic components of the rectum
and anus.

not a straight tube. The angulations in the sigmoid colon and and is sampled by the exquisitely sensitive sensory receptors
the valves of Houston in the rectum impede the caudal move- in the anal mucosa, which allows evaluation of stool consis-
ment of fecal contents. The 80-degree anorectal angle also tency and recognition of flatus. The need to defecate is appre-
assists fecal continence.14 The longitudinal mucosal folds in ciated, but this urge can be voluntarily inhibited. The external
the anus also contribute to continence of semisolid or fluid anal sphincter and puborectalis can be contracted voluntarily
feces by the way they fold together, even when the internal to abort the fecal expulsion. The rectum and colon stretch
sphincter partially relaxes. compliantly, decreasing the intrarectal pressure and the urge
The anal sphincters play an important role in maintaining to stool.
continence, and both the voluntary external sphincter and the As more stool is delivered to the rectum, the sensation in-
involuntary internal sphincter have a resting tone. Fecal con- creases and rectal waves intensify. The urge to defecate is
tinence requires a normally functioning IAS, external sphinc- increased, and the reflex inhibition of the sphincters becomes
ter complex, and levator funnel, as well as intact sensory input greater. The reflex suppression of the tonic contraction of the
from the rectum and anal canal.15,16 The rectum has stretch external anal sphincter and puborectalis begins; if time and
receptors, which have an increasing sensitivity the more distal place are appropriate, voluntary defecation can occur.
they are sited. The anal canal is richly endowed with sensory Young children have a shorter intestinal transit time than
receptors for most modalities of sensation.17 These receptors older children, and this correlates with the more frequent
allow us to distinguish between flatus, fluid, and feces. bowel movements in infants.20 Infants who are fed by breast
Gross continence, the ability to hold large volumes of solid milk or cow’s milk–based formula have one to seven bowel
or liquid feces, is a function of the intact anorectal angle and movements per day.21 In children between 1 and 4 years of
tonic contraction of both external and internal sphincter sys- age, 85% pass stool once or twice per day.22 Normal English
tems. Fine continence—the control of small volumes of feces school children23 have mean transit times of 26 hours and
or flatus—is the function of the coordinated action of the constipated children of 80 hours. Healthy young adults have
sphincters. The distal 2 cm of the anal canal above and at transit times from 30 to 48 hours.24
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 Constipation
------------------------------------------------------------------------------------------------------------------------------------------------

Constipation in children is a common condition, especially in

Physiology of Defecation the Western world. Unresolved constipation can lead to fecal
------------------------------------------------------------------------------------------------------------------------------------------------
retention and impaction, and finally to overf1ow incon-
The defecation sequence is a complex combination of invol- tinence. In the overwhelming majority of patients the exact
untary actions and voluntary accomplishments that are con- cause of constipation remains obscure; in this case the condi-
trolled by higher cerebral centers. The rectum fills gradually tion is called functional constipation.
by colonic action. The distension of the rectum stimulates
stretch receptors in the rectal wall and levator and induces
DEFINITIONS
an initial contraction of the voluntary sphincter complex,
retrograde emptying of the distal rectum, and relaxation of The consensus Rome III classification is most commonly used
the IAS. This causes a sensation to desire to defecate that in the diagnosis of functional constipation in children.25
increases in intensity as the rectum fills. Stool is temporarily Functional constipation in children is defined as constipation
allowed to contact the sensitive mucosa of the anal canal 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 chil-
dren 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.26–29
More than 50% of constipated children have a familial inci-
dence, 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 evalu-
ation 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 bottle-
feeding or the introduction of solid foods.33 Specifically, in
children anal fissure or perianal dermatitis with group A Strep-
tococcus causes a vicious cycle of stool withholding and painful
defecation and chronic constipation. A suggested alternative
etiology is cow’s 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 con-
stipated 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 straightfor-
ward, especially in infants and toddlers. Adding more water
to the diet and restriction of cow’s 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 com-
monly 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 diag-
nosis 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 de-
scription 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 child’s abdomen is usually
nontender and rarely distended. Stool masses are frequently
palpable above the pubic symphysis and in the lower left ab-
domen. The perineum must be inspected carefully for the po-
sition 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 mid-
anal 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 20-25%
1-5 yr 70%
> 5 yr 10-15%
Boys-to-girls 1-3:1
Previous attempts to treat 80-90%
Soiling 70-75%
Unsuccessful toilet training 70-80%
Pain at defecation 70-80%
Abdominal pain 50-60%
Occasional blood in stool 25-30%
Poor appetite 20-30%
Wetting 20-30%
Primary psychopathology 15-20%
Rectal prolapse 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 dif-
ficult, especially if the anterior position of the anus is associ-
ated 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 child’s 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 per-
ineal 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 disor-
ders. 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 manage-
ment. Barium enema and other imaging such as plain abdom-
inal radiography, transit time studies, or magnetic resonance
imaging (MRI) are indicated in patients who have poor
response to appropriate medical treatment or abnormal clin-
ical 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 Hirsch-
sprung 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 tether-
ing and intraspinal lipomas.48 Transit time studies by radi-
opaque markers37,49 or radioisotopes38 have been used to
assess colonic motility in patients with poor response to stan-
dard medical management. These studies have revealed that
slow-transit constipation occurs in a significant proportion
of patients with recalcitrant constipation. The main method-
ological 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.46,50–52
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 clar-
ified to the parents. Parents are encouraged to maintain a
consistent supportive attitude during the long period of treat-
ment. 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 pro-
gram.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 abdo-
men, 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, docu-
sate, 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 min-
imal. 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 treat-
ment is more essential. In the early phases of management
after the disimpaction, more effective medication is often re-
quired. Stimulant laxatives (Senna, sodium picosulfate)
should be used for short periods, as short as possible, and
should be replaced by less harmful therapies. Osmotic laxa-
tives (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 dur-
ing 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 manage-
ment 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 manage-
ment, have persistent constipation, abdominal symptoms, and
soiling throughout and beyond childhood. There are no con-
trolled studies in children devoted to the surgery of pediatric
idiopathic constipation.
For pediatric patients who are refractory to all medical ther-
apy, there are some viable surgical options. It is essential that
organic causes of constipation are ruled out. The MACE pro-
cedure63 that has been originally used for neuropathic incon-
tinence or incontinence following management of anorectal
anomalies has been successfully used also for idiopathic con-
stipation.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. Re-
section of the megarectum and megasigmoid has been per-
formed 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 inconti-
nence.68–71 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 consti-
pation. 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 en-
uresis was 40%. The only measurable functional abnormality
was an isolated impairment of rectal sensibility at anorectal
manometry; sphincter performance was comparable with con-
stipated control individuals. Treatment consisted of counsel-
ing, 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 ado-
lescence 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

circumferential.76 Rectal prolapse and mucosal ectopia were

Rectal Prolapse much more common before the era of the PSARP procedure.77
------------------------------------------------------------------------------------------------------------------------------------------------
Rectal polyps may be a leading point for a prolapse.
Rectal prolapse is a relatively common, usually self-limiting The diagnosis of rectal prolapse is usually based on history.
condition in children. The peak incidence is between 1 and Most commonly a rosette of rectal mucosa is noted after defeca-
3 years of age. Prolapse can be either partial or complete. In tion. The child complains that something comes out of the anus.
partial prolapse the rectal mucosa protrudes only about 1 to Usually the prolapse reduces spontaneously but must be some-
3 cm from the anal verge with characteristic radiating folds times reduced manually. In mild forms the prolapse comes out
from the center of the anal aperture. In complete prolapse, occasionally following major straining or during diarrheal ill-
the full thickness of the rectum is involved; 5 cm or more ness. The problem is more annoying and worrisome for the
of the rectum protrudes, and the prolapse is distinguished patient and parents if the prolapse occurs after every defecation.
by the circular folds of the mucosa (Fig. 104-2). There is sig- Usually the prolapse cannot be provoked when the child is
nificant controversy as to whether rectal prolapse in children brought to consultation. Rectal examination is indicated to
is partial or complete. 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 war-
PATHOGENESIS AND DIAGNOSIS
ranted at least when a prolapse is associated with rectal ulcer,
The vast majority of patients suffering from rectal prolapse do suggesting intussuscepting prolapse of the sigmoid colon or
not have any predisposing factors. The children suffering from accompanying enterocele.
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
TREATMENT
rectal prolapse.30
Several organic conditions predispose to rectal prolapse. In acute prolapse, reduction may occur spontaneously on
Cystic fibrosis is associated with rectal prolapse.73 More than standing up. If not, the prolapse must be reduced as soon
a fifth of the patients with cystic fibrosis develop rectal pro- as possible. The parents often rush the child to a hospital
lapse.74,75 The neuropathic causes of complete rectal prolapse when the prolapse appears for the first time. The tip of the her-
excluding myelomeningocele are rare. Nevertheless, paralysis niated bowel can usually be gently pushed into the anus.
of the levator ani with raised intra-abdominal pressure leads to If edema has formed, a gentle squeezing pressure may be
procidentia and prolapse. In ectopia vesicae there is wide required. Reduction technique must be taught to the parents.
separation of the symphysis pubis and the puborectalis mus- There is spontaneous cure in most cases of recurrent pro-
cle, and this wide hiatus predisposes to prolapse of the pelvic lapse.78 In many cases the prolapse reduces spontaneously.
organs including the rectum. Besides severe malnutrition, In cases without spontaneous reduction the parents can
connective tissue diseases (e.g., Ehler-Danlos) and behavioral reduce the prolapse gently if appropriately instructed. Accom-
disorders (e.g., Asperger) predispose to rectal prolapse. panying constipation is treated with laxatives when present.
Iatrogenic full-thickness rectal prolapse may occur follow- Local transanal treatments such as injections of the prolapse,
ing pull-through operations for high anorectal anomalies. multiple linear thermocauterization to the mucosa, excision of
Much more common is mucosal prolapse that is usually not 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 laparo-
scopic suspension of the rectum to anterior sacrum with rou-
tine 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,80–83
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.
FIGURE 104-2 Rectal prolapse in a 2-year-old boy. In patients with mucosal prolapse treatment involves excision
 CHAPTER 104 OTHER DISORDERS OF THE ANUS AND RECTUM, ANORECTAL FUNCTION 1317

of the mucosal ectopia and reconstruction of a skin-lined anal stools streaked with bright-red blood. Anal fissure is often
canal with a local skin flap. Patients with a complete prolapse but not necessarily associated with constipation, which is
require a repeat posterior reconstruction of the levator funnel caused by fear of painful defecation.
and external sphincter complex, as well as rectal suspension. 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 diag-
nostic modalities are necessary. The most common location
Anal Fissure of idiopathic anal fissure is posterior midline, but especially
------------------------------------------------------------------------------------------------------------------------------------------------
in infants it may be found anywhere in the anal circumference.
Anal fissure is a longitudinal tear or ulcer in the distal anal In female infants a common site of anal fissure is the anterior
canal epithelium extending to the anal verge. Most acute midline. A sentinel pile or skin tag at the area of the fissure
fissures heal spontaneously within a few weeks, but a pro- is associated with chronic or subchronic fissure. Atypical
portion become chronic. Anal fissure is the most common fissures may be multiple and often off the midline and are
cause of hematochezia in childhood, and it is one of the most commonly large and irregular. Atypical appearance of fissure
common lesions to consider in the differential diagnosis of should initiate further investigations including biopsy,
anal pain. Anal fissures are common, although their exact cultures, and colonoscopy to rule out Crohn disease, immu-
incidence in children is unknown. nodeficiency states, tuberculosis, venereal infection, and
malignancies.
PATHOGENESIS
TREATMENT
Pathogenesis of idiopathic anal fissure is still incompletely
understood, and it may differ in adults and children.86 Anal Most idiopathic anal fissures in children heal without any
fissures in childhood are often associated with secondary specific treatment in a few months.89,90 Only symptomatic
constipation due to painful passage of stools. The classic con- fissures require treatment. If fissure is associated with consti-
cept of mechanical tear caused by hard stools as a primary pation and/or painful defecation, stool softening with dietary
causative factor may be too simple and outdated. However, de- modification and bulk laxatives is indicated. Lubricants ease
liberate avoiding of defecation does cause rectal distension painful passage of stools. The goal is to interrupt the vicious
and leads to decreased rectal sensation, which in turn, results circle of painful defecation, fecal retention, hard stools, and
in infrequent, bulky, and hard stools that prevent healing of prevention of healing of fissure. As expected, most fissures re-
fissure. Fear of painful defecation may lead to fecal retention spond promptly to stools softening and heal in several
and gives rise to a vicious circle. weeks.89 Hematochezia stops when fissure heals. Occasion-
There is a widely accepted theory on the pathogenesis of ally a child presents with typical history after the symptoms
anal fissure in adults.86,87 According to this theory increased have disappeared and the fissure has healed. Initially, these
internal sphincter pressure and muscle spasm lead to im- patients may be treated expectantly unless no abnormal
paired tissue perfusion and finally epithelial ulceration. Spasm clinical signs are present and hematochezia has not recurred.
of internal anal sphincter is so severe that the pain caused by Botulinum toxin injection into sphincter muscles in order
fissure is thought to be due to ischemia. The most common to overcome increased pressure is a novel treatment for
site of idiopathic anal fissure is posterior midline, which is less chronic fissures. Quick and effective healing has also been
vascularized than other areas of the anal canal. Anal canal rest- reported in children.91 We use botulinum toxin injections into
ing pressure is increased in patients with anal fissure. Decrease the internal part of the sphincter complex with a dose of
of anal canal pressure after surgical or pharmacologic sphinc- 15-25 U, depending on the patient’s age, into each of the four
ter relaxation is accompanied with improved perfusion of quadrants. Usually healing occurs in several weeks and injec-
anoderm and healing of chronic fissures. Currently, it is un- tions may be repeated in refractory cases. After encouraging
known whether this theory also applies to pediatric patients. initial results in adults, several recent randomized placebo-
In children a vast majority of idiopathic anal fissures heal controlled trials have assessed efficiency of topical glyceryl
without any specific therapy. This may be due to relatively trinitrate in anal fissure in children.89,90,92,93 Two studies
better tissue perfusion of the anal canal, greater regenerative reported faster healing of fissures and relief of symptoms in
capacity in general, or different pathogenesis in children than children treated with glyceryl trinitrate,90,93 whereas no ben-
in adults. An unhealed fissure may become inflamed due to efit was found in one.89 Few children experienced temporary
bacterial infection and chemical and mechanical irritation. incontinence, and none reported headache during glyceryl
As a result of long-standing inflammation, chronic anal fissure trinitrate treatment.89,90,93 Taken together, topical glyceryl
may have hypertrophied anal papilla proximally and a sentinel trinitrate for anal fissures is only marginally better than
skin tag distally. This kind of chronic anal fissure is only rarely placebo.92
seen in children and should raise the suspicion of underlying Surgical therapies reported for treatment of anal fissure
Crohn disease.88 in children include fissurectomy, anal dilatation under general
anesthesia, and lateral internal sphincterotomy.94,95 Lateral
DIAGNOSIS subcutaneous sphincterotomy also appears to be an effective
procedure in children.94 Fissure cure rates (80%) after fissur-
Anal fissure may occur in any age. Typical age of presentation ectomy combined with laxatives are comparable with simple
is around 2 years. Most often anal fissures present with bright laxative therapy.89,95 Anal dilatation causes unpredictable
red rectal bleeding that may be associated with painful defe- degree of sphincter damage and should be avoided. In adult
cation. The child may cry with bowel movements and have patients, lateral sphincterotomy is associated with an
1318 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 sphinc-
terotomy should be reserved for those rare children whose
anal fissure has progressed to a real chronic fissure after treat-
ment 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 FIGURE 104-4 Typical perianal abscess in a male infant.
therapy.97
subcutaneous and straight. It usually traverses from the
Perianal Abscess and Fistula affected crypt through the subcutaneous external sphincter
to the perianal skin. The fistulas are usually distributed evenly
in Ano around the anal circumference. Multiple lesions occur in 15%
------------------------------------------------------------------------------------------------------------------------------------------------
to 20% of cases (Fig. 104-5).103,104
Perianal abscess is not uncommon in small infants. The vast The traditional management of perianal abscess is incision
majority of patients are male.98 A congenital etiology has been and drainage. This is associated with a significant recurrence
suggested for infant anal fistulas.99,100 A proposed relation- rate.104,105 However, at the end of the day most abscesses are
ship to androgens resulting in congenital deep, epithelialized cured by expectant treatment only.104,105 Fistula-in-ano has
crypts may explain the predominant occurrence in male been considered as an indication for surgical treatment. The
infants.100,101 A typical presentation is a perianal abscess in traditional method has been identification of the affected anal
a child younger than 12 months (Fig. 104-4), in the majority crypt and fistulotomy by deroofing of the fistula tract. Recur-
before the age of 6 months. After initial incision the condition rent fistulas occur in 10% to 20% of cases. Recent reports
may progress to or recur as an anal fistula. The incidence of have advocated expectant treatment for asymptomatic
fistula formation in patients with perianal abscess may be as
low as 10% to 20%.102,103 The fistula may present alone with-
out preceding perianal abscess. The fistula is typically

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

FIGURE 104-3 Perianal streptoccoccal dermatitis. 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 cryptoglandu-
lar 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 le-
sions without knowledge of their clinical and biologic proper-
ties. 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
FIGURE 104-6 Hemorrhoids in a 5-year-old boy, without any underlying
vascular malformations, which are nonproliferative lesions conditions. Note the typical adult type piles at 4, 7, and 11 o’clock.
that do not regress. Intestinal bleeding from vascular malfor-
mations in children is rare. The most common sites are distal
colon and rectum.107 The vascular anomalies in the distal from the anal opening. A more common finding, especially
bowel are usually venous malformations and not hemangi- in constipated children, is a prominent venous plexus around
omas as previously thought.108 In the minority of cases the the anal opening. This is a common source of rectal bleeding
vascular lesion is part of a systemic disease such as Klippel- in constipated children. The venous sinuses of this venous
Trenaunay (congenital varicose veins, cutaneous hemangiomas, plexus may rarely thrombose, causing similar symptoms as
and ectatic hypertrophy of the lower limbs) and Osler-Rendu- in adults with acute thrombosis of external hemorrhoids.
Weber (multiple telangiectasia) syndromes. Adult-type hemorrhoids begin to occur in adolescents
A typical symptom of rectal vascular malformations is re- and may be complicated by thrombosis of the external part
current hematochezia that may sometimes be profuse. The pa- of piles.
tient may also present with hemorrhoids. The diagnosis of In otherwise healthy children hemorrhoids do not require
vascular anomalies may be difficult. In the distal bowel endos- surgical therapy. Major bleeding does not occur. Symptomatic
copy may show findings that suggest localized inflammation. patients with portal hypertension may require treatment.
Dilated vessels are rarely visible. MRI and angiography are the Banding or sclerotherapy controls the symptoms in most
best methods to diagnose and localize intestinal vascular le- cases.112
sions. 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 ca-
nal are best treated by endorectal pull-through and colo-anal Solitary Rectal Ulcer
anastomosis.109,110 This sphincter-saving operation eradicates ------------------------------------------------------------------------------------------------------------------------------------------------

bleeding episodes for long periods of time, if not permanently. Solitary rectal ulcer syndrome (SRUS) is a chronic, benign
disorder characterized by hematochezia, mucous discharge, te-
nesmus, and local perianal pain. It is rare in children but should
be kept in mind in patients with local anal symptoms.113,114
Hemorrhoids In children the macroscopic finding at endoscopy is
------------------------------------------------------------------------------------------------------------------------------------------------
a thickened and edematous lesion that may have an ulcerative
Hemorrhoids are uncommon in children unless in those with or polypoid appearance in the anterior rectal wall 2 to 5 cm
portal hypertension. One third of the children with portal hy- above the anal verge. We have encountered 12 cases in the past
pertension have hemorrhoids. Hemorrhoids are more com- 15 years. Some patients have a feeling of incomplete evacuation
mon in patients with extrahepatic portal hypertension than with frequent visits to the toilet associated with chronic
in those with intrahepatic disease.111 Symptomatic hemor- straining at stool. Rectal or internal rectosigmoid prolapse
rhoids, however, are uncommon. Hemorrhoids in children has been reported to occur in a significant percentage of
may be associated with rectal vascular malformations. cases.40 According to our experience, conservative manage-
Clinically detectable internal hemorrhoids with external ment with stool softeners and local steroid suppositories is
extension occur also in otherwise healthy children but are rare successful in most children. Open or laparoscopic recto-
(Fig. 104-6). We have seen approximately one to two healthy pexy113,115 has been suggested to correct the external or inter-
children with internal and external hemorrhoids per year nal rectal prolapse that is often associated with SRUS; three
during the past 15 years. Usually there are no symptoms, of our patients have required rectopexy for recalcitrant
but the child or parents have noticed something to protrude symptoms.
1320 PART VII ABDOMEN

Infantile Proctocolitis
------------------------------------------------------------------------------------------------------------------------------------------------
Sexual Abuse
------------------------------------------------------------------------------------------------------------------------------------------------

Apart from anal fissure, the most common cause of hemato- Child sexual abuse is a common and worldwide problem. In
chezia in infants younger than 3 months of age is eosinophilic Europe the incidence appears to be 6% to 36% of girls and
proctocolitis. The infantile proctocolitis typically presents at 1% to 15% of boys younger than 16 years.122 Sexual abuse
the age of 3 to 4 weeks with fresh blood streaks mixed in rarely causes death, but its consequences can be serious and
stools. The stools often contain mucus. Usually there are no persist through adulthood. In child sexual abuse the signifi-
other symptoms, and the growth and development of the cance of findings in the vagina and hymen are well recognized.
infant is normal.116 Colonoscopy shows colitis that is often In the context of anal abuse the findings are more contro-
patchy and rarely extends beyond the left colon. Histology versial and difficult to verify.
reveals marked eosinophilic infiltrate. Some patients may also Hobbs and Wynne123 stated that “dilatation and reflex anal
have an elevated eosinophilic count in peripheral blood. dilatation” are not seen in normal children and are signs of
Allergic etiology has been suggested because of these findings abuse. Reflex anal dilatation (even gross) was found on routine
but is found in a minority of cases.117 The condition is self- examination in 28 of 200 children (14%) examined consecu-
limiting, and symptoms usually subside within a few weeks. tively in community health clinics, a pediatric outpatient
Diet change has been also reported to be helpful in reversing clinic, a district hospital, and a rectal clinic.124 Constipation
the symptoms.118 or feces in the rectum, without associated sexual abuse,
may often produce gaping of the anus on separation of the but-
tocks.125 Hobbs and Wynne126 also suggested that an anal fis-
sure was a sign of abuse in 53% of 143 cases quoted. Pierce127
found that the majority of children with strong or definite his-
Proctalgia Fugax tory of anal abuse had anal fissures or scars. However, an anal
------------------------------------------------------------------------------------------------------------------------------------------------
fissure is far too common a finding in routine clinical practice
Proctalgia fugax (PF) is a benign painful rectal condition that to be regarded as a cause for suspicion of sexual abuse.128
is defined as intermittent, recurring, and self-limiting pain Obvious laceration, bruising around the anus or inner thighs,
in the anorectal region in the absence of organic pathology. and scratches, especially with a suspicious or definitive history of
There was also thought to be a male preponderance; however, abuse, are more conclusive. This sort of forensic evidence is
more recently a female preponderance is reported.119 The rarely found in children because there is usually a significant
onset of symptoms is usually at school age or adolescence. time lapse between the abuse and medical examination.
The etiology of proctalgia fugax is unknown. Spasm of the anal If a child displays total passiveness and indifference to
sphincter complex is the most commonly suggested etiologic physical examination, or to inspection and examination of
mechanism. the anus, with no attempt to withdraw or tighten the striated
Rome III criteria define proctalgia fugax as recurrent muscle complex when a rectal examination is attempted, the
episodes of pain that localize to the anus and lower rectum. clinician should be alert to the possibility of sexual abuse.
The episode lasts from seconds to minutes, and there is no Perianal warts caused by the human papillomavirus should
pain between episodes.120 The condition is uncommon in always raise the possibility of sexual interference because this is
children; the authors see approximately one to two new the most likely mode of transmission.129,130 Although many stud-
patients per year with proctalgia fugax. It is essential to rule ies suggest a high association with sexual abuse (60% to 90% of
out organic causes for anorectal pain before diagnosis of proc- cases), recent studies have questioned this association, particu-
talgia fugax is made. Proctalgia fugax in children is a self- larly in infants. Parents of children with condylomata often have
limiting condition that, however, may need treatment if warts on nongenital skin, and vertical transmission between
episodes of pain are frequent and long lasting. mother and child has been well documented. The presence of con-
There no evidence-based management protocol for dyloma acuminata in infants younger than 1 year of age may
proctalgia fugax, but in most cases topical treatment with represent vertical transmission from the mother; older children
glyceryl nitrate cream or oral spasmolytics is helpful. Other must be treated with a high index of suspicion for child abuse.
options are oral clonidine or inhaled salbutamol. In recal-
citrant cases local botulinum toxin injections may be The complete reference list is available online at www.
helpful.121 expertconsult.com.