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CHAPTER I
INTRODUCTION
Congenital anomalies and preterm birth are important causes of childhood death,
chronic illness, and disability in many countries. In 2010 the World Health Assembly
adopted a resolution calling all Member States to promote primary prevention and the
health of children with congenital anomalies by:
developing and strengthening registration and surveillance systems
developing expertise and building capacity
strengthening research and studies on aetiology, diagnosis and prevention
promoting international cooperation.
Causes of 3.1 million neonatal deaths in 193 countries in 2010
Source: Adapted from WHO. Born too soon. The global action report on preterm birth.
Geneva, World Health Organization, 2012
Definition
Congenital anomalies are also known as birth defects, congenital disorders or congenital
malformations. Congenital anomalies can be defined as structural or functional
anomalies, including metabolic disorders, which are present at the time of birth.
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Causes and risk factors
Approximately 50% of all congenital anomalies, however, cannot be assigned to a
specific cause. However some causes or risk factors have been associated to congenitalanomalies.
1. Socioeconomic factors
Although it may be an indirect determinant, congenital anomalies are more frequent
among resource constrained families and countries. It is estimated that about 94%
of serious birth defects occur in middle- and low-income countries, where mothers
are more susceptible to macronutrient and micronutrient malnutrition and may have
increased exposure to any agent or factor that induces or increases the incidence of
abnormal prenatal development, particularly infection and alcohol. Advanced
maternal age also increases the risk of some chromosomal abnormalities including
Down syndrome.
2. Genetic factors
Consanguinity (relationship by blood) increases the prevalence of rare genetic
congenital anomalies and nearly doubles the risk for neonatal and childhood death,
intellectual disability and serious birth anomalies in first cousin unions. Some
ethnic communities, e.g. Ashkenazi Jews or Finns, have comparatively high
prevalence of rare genetic mutations, leading to a higher risk of congenital
anomalies.
3. Infections
Maternal infections such as syphilis and rubella are a significant cause of birth
defects in low- and middle-income countries.
4. Maternal nutritional status
Iodine deficiency, folate insufficiency, overweight, or conditions like diabetes
mellitus are linked to some congenital anomalies. For example folate insufficiency
increases the risk of having a baby with neural tube defects.
5. Environmental factorsMaternal exposure to pesticides, medicinal and recreational drugs, alcohol, tobacco,
certain chemicals, high doses of vitamin A during the early pregnancy, and high
doses of radiation increase the risk of having a baby with congenital anomalies.
Working or living near or in waste sites, smelters, or mines may also be a risk
factor.
Prevention
Preventive public health measures administered through pre- and peri-conception and
prenatal health care services decrease the frequency of certain congenital anomalies.Primary prevention of congenital anomalies involves:
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1. Improving the diet of women throughout their reproductive years, ensuring an
adequate dietary intake of vitamins and minerals such as folic acid and iodine,
and restricting harmful substances, particularly the abuse of alcohol. Controlling
pre-conceptional and gestational diabetes through counselling, weight
management, diet and the administration of insulin when needed.
2. Avoiding exposure to hazardous environmental substances (e.g. heavy metals,
pesticides, some medicinal drugs) during pregnancy.
3. Improving vaccination coverage, especially with rubella virus, for children and
women. This can be prevented through childhood vaccination. The rubella
vaccine can also be given at least 1 month prior to pregnancy to women who are
not already immune.
4. Increasing and strengthening education to health staff and others interested in
promoting birth defects prevention.
Detection
Pre- and peri-conceptional care includes basic reproductive health practices as well as
medical genetic screening. Screening can be conducted during the following three
periods:
Preconception screening is used to identify persons at risk for specific disorders or at
risk for passing one on to their children. The strategy includes the use of family histories
and carrier screening, and is particularly valuable in countries where consanguineousmarriage is common.
Antenatal screening includes screening for advanced maternal age, Rhesus blood group
incompatibility, and carrier screening. Ultrasound can be used to detect Down syndrome
during the first trimester and serious fetal anomalies during the second trimester;
maternal serum screening can also be used for detection of Down syndrome and neural
tube defects during the first and second trimesters.
Newborn screening includes clinical examination and screening for haematological,
metabolic, and hormonal disorders. Screening for deafness and heart defects as well asearly detection of birth defects can facilitate life-saving treatments and prevent the
progression towards some physical, intellectual, visual or auditory disabilities.
Treatment and care
In countries with well-established health services, structural birth defects can be
corrected with paediatric surgery and early treatment can be administered to children
with functional problems such as thalassaemia (inherited recessive blood disorders),
sickle cell disorders and congenital hypothyroidism.
CHAPTER II
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CONTENT
2.1 HIRCHSPRUNG DISEASE
Background
Hirschsprung disease is a developmental disorder of the enteric nervous system and is
characterized by an absence of ganglion cells in the distal colon resulting in a functional
obstruction.
Hirschsprung disease. Contrast enema demonstrating transition zone in the rectosigmoid
region.
Although this condition was described by Ruysch in 1691 and popularized by
Hirschsprung in 1886, the pathophysiology was not clearly determined until the middle
of the 20th century, when Whitehouse and Kernohan described the aganglionosis of the
distal intestine as the cause of obstruction in their series of patients.
In 1949, Swenson described the first consistent definitive procedure for Hirschsprung
disease, rectosigmoidectomy with coloanal anastomosis. Since then, other operations
have been described, including the Duhamel and Soave techniques. More recently,
advances in surgical technique, including minimally invasive procedures, and earlier
diagnosis have resulted in decreased morbidity and mortality for patients with
Hirschsprung disease.
Most cases of Hirschsprung disease are now diagnosed in the newborn period.
Hirschsprung disease should be considered in any newborn who fails to pass meconium
within 24-48 hours after birth. Although contrast enema is useful in establishing the
diagnosis, full-thickness rectal biopsy remains the criterion standard. Once the diagnosis
is confirmed, the basic treatment is to remove the poorly functioning aganglionic bowel
and to create an anastomosis to the distal rectum with the healthy innervated bowel
(with or without an initial diversion).
Pathophysiology
Congenital aganglionosis of the distal bowel defines Hirschsprung disease.
Aganglionosis begins with the anus, which is always involved, and continuesproximally for a variable distance. Both the myenteric (Auerbach) plexus and the
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submucosal (Meissner) plexus are absent, resulting in reduced bowel peristalsis and
function. The precise mechanism underlying the development of Hirschsprung disease
is unknown.
Enteric ganglion cells are derived from the neural crest. During normal
development, neuroblasts will be found in the small intestine by the 7th week ofgestation and will reach the colon by the 12th week of gestation. One possible etiology
for Hirschsprung disease is a defect in the migration of these neuroblasts down their
path to the distal intestine. Alternatively, normal migration may occur with a failure of
neuroblasts to survive, proliferate, or differentiate in the distal aganglionic segment.
Abnormal distribution in affected intestine of components required for neuronal growth
and development, such as fibronectin, laminin, neural cell adhesion molecule (NCAM),
and neurotrophic factors, may be responsible for this theory.
Additionally, the observation that the smooth muscle cells of aganglionic colon
are electrically inactive when undergoing electrophysiologic studies also points to a
myogenic component in the development of Hirschsprung disease. Finally,abnormalities in the interstitial cells of Cajal, pacemaker cells connecting enteric nerves
and intestinal smooth muscle, have also been postulated as an important contributing
factor.
Three neuronal plexus innervate the intestine: the submucosal (ie, Meissner)
plexus, the intermuscular (ie, Auerbach) plexus, and the smaller mucosal plexus. All of
these plexus are finely integrated and involved in all aspects of bowel function,
including absorption, secretion, motility, and blood flow.
Normal motility is primarily under the control of intrinsic neurons. Bowel
function is adequate, despite a loss of extrinsic innervation. These ganglia control bothcontraction and relaxation of smooth muscle, with relaxation predominating. Extrinsic
control is mainly through the cholinergic and adrenergic fibers. The cholinergic fibers
cause contraction, and the adrenergic fibers mainly cause inhibition.
In patients with Hirschsprung disease, ganglion cells are absent, leading to a
marked increase in extrinsic intestinal innervation. The innervation of both the
cholinergic system and the adrenergic system is 2-3 times that of normal innervation.
The adrenergic (excitatory) system is thought to predominate over the cholinergic
(inhibitory) system, leading to an increase in smooth muscle tone. With the loss of the
intrinsic enteric inhibitory nerves, the increased tone is unopposed and leads to an
imbalance of smooth muscle contractility, uncoordinated peristalsis, and a functionalobstruction
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Epidemiology
Frequency
Hirschsprung disease occurs at an approximate rate of 1 case per 5400-7200 newborns.
Mortality/Morbidity
Approximately 20% of infants will have one or more associated abnormality involving
the neurological, cardiovascular, urological, or gastrointestinal system.
Hirschsprung disease has been found to be associated with the following:
Down syndrome
Neurocristopathy syndromes
Waardenburg-Shah syndrome
Yemenite deaf-blind syndrome
Piebaldism
Goldberg-Shprintzen syndrome
Multiple endocrine neoplasia type II
Congenital central hypoventilation syndrome
Untreated aganglionic megacolon in infancy may result in a mortality rate of as much as
80%. Operative mortality rates for any of the interventional procedures are very low.
Even in cases of treated Hirschsprung disease, the mortality rate may be as high as 30%as a result of enterocolitis.
Possible complications of surgery include anastomotic leak (5%), anastomotic stricture
(5-10%), intestinal obstruction (5%), pelvic abscess (5%), and wound infection (10%).
Long-term complications include ongoing obstructive symptoms, incontinence, chronic
constipation, enterocolitis, and late mortality, mostly affecting patients with long-
segment disease. Although many patients will encounter one or more of these problems
postoperatively, long-term follow-up studies have shown that greater than 90% of most
children experience significant improvement and will do relatively well. Patients with an
associated syndrome and those with long-segment disease have been found to have
poorer outcomes.
Race
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Hirschsprung disease has no racial predilection.
Sex
Hirschsprung disease occurs more often in males than in females, with a male-to-female
ratio of approximately 4:1. However, with long-segment disease, the incidence increasesin females.
Age
Hirschsprung disease is uncommon in premature infants.
The age at which Hirschsprung disease is diagnosed has progressively decreased over
the past century. In the early 1900s, the median age at diagnosis was 2-3 years; from
the 1950s to 1970s, the median age was 2-6 months.
Currently, approximately 90% of patients with Hirschsprung disease are diagnosed in
the newborn period
History
Approximately 10% of patients have a positive family history. This is more common in
patients with longer segment disease.
Hirschsprung disease should be considered in any newborn with delayed passage of
meconium or in any child with a history of chronic constipation since birth. Other
symptoms include bowel obstruction with bilious vomiting, abdominal distention, poor
feeding, and failure to thrive.
Prenatal ultrasound demonstrating bowel obstruction is rare, except in cases of total
colonic involvement.Older children with Hirschsprung disease have usually had chronic constipation since
birth. They may also show evidence of poor weight gain.
Older presentation is more common in breastfed infants who will typically develop
constipation around the time of weaning.
Despite significant constipation and abdominal distension, children with Hirschsprung
disease rarely develop encopresis. In contrast, children with functional constipation or
stool-withholding behaviors more commonly develop encopresis.
About 10% of children may present with diarrhea caused by enterocolitis, which is
thought to be related to stasis and bacterial overgrowth. This may progress to colonic
perforation, causing life-threatening sepsis.
In a study of 259 consecutive patients, Menezes et al reported that 57% of patients
presented with intestinal obstruction, 30% with constipation, 11% with enterocolitis,
and 2% with intestinal perforation.
Physical
Physical examination in the newborn period is usually not diagnostic, but it may reveal
a distended abdomen and/or spasm of the anus.
A low imperforate anus with a perineal opening may have a similar presentation to that
of a patient with Hirschsprung disease. Careful physical examination differentiates the
two.
In older children, however, a distended abdomen resulting from an inability to releaseflatus is not uncommon.
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Differential Diagnoses
Constipation
Hypothyroidism
Ileus
Intestinal Motility Disorders
Intestinal Pseudo-obstruction: Surgical Perspective
Irritable Bowel Syndrome
Megacolon, Acute
Megacolon, Chronic
Megacolon, Toxic
Workup
1. Laboratory Studies
Chemistry panel: For most patients, electrolyte and renal panel findings arewithin reference ranges. Children presenting with diarrhea may have findings
consistent with dehydration. Test results may aid in directing fluid and
electrolyte management.
CBC count: This test is obtained to ensure that the preoperative hematocrit and
platelet count are suitable for surgery. In most cases, values are within reference
ranges.
Coagulation studies: These studies are obtained to ensure that clotting disorders
are corrected before surgery. Again, values are expected to be within reference
ranges.
2. Imaging Studies
Plain abdominal radiographs may show distended bowel loops with a paucity of air in
the rectum.
Barium enema
o Avoid washing out the distal colon with enemas before obtaining the contrast
enema because this may distort a low transition zone.
o The catheter is placed just inside the anus, without inflation of the balloon, to
avoid distortion of a low transition zone and the risk of perforation.
o Radiographs are taken immediately after hand injection of contrast and again 24
hours later.
o A narrowed distal colon with proximal dilation is the classic finding of
Hirschsprung disease after a barium enema. However, findings in neonates (ie,
babies aged < 1 mo) are difficult to interpret and will fail to demonstrate this
transition zone approximately 25% of the time.
o Another radiographic finding suggestive of Hirschsprung disease is the retention
of contrast for longer than 24 hours after the barium enema has been performed.
3. Other Tests
Anorectal manometry
o Anorectal manometry detects the relaxation reflex of the internal sphincter
after distension of the rectal lumen. This normal inhibitory reflex is thought
to be absent in patients with Hirschsprung disease.
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o Swenson initially used this test. In the 1960s, it was refined but has fallen
into disfavor because of its many limitations. A normal physiological state is
required, and sedation is also usually necessary. Although some authors find
this test quite useful, false-positive results have been reported in up to 62%
of cases, and false-negative results have been reported in up to 24% of cases.
o Because of these limitations and questionable reliability, anorectalmanometry is not commonly used in the United States.
Because cardiac malformation (2-5%) and trisomy 21 (5-15%) are associated with
congenital aganglionosis, cardiac evaluation and genetic testing may be warranted.
Rectal biopsy
o The definitive diagnosis of Hirschsprung disease is confirmed by rectal
biopsy, ie, findings that indicate an absence of ganglion cells.
o The definitive method for obtaining tissue for pathologic examination is by a
full-thickness rectal biopsy.
o The specimen must be obtained at least 1.5 cm above the dentate line
because aganglionosis may normally be present below this level.
o Disadvantages include the potential for bleeding and scarring and the usual
need forgeneral anesthesia during full-thickness biopsy procedures.
Simple suction rectal biopsy
o More recently, simple suction rectal biopsy has been used to obtain tissue for
histologic examination.
o Rectal mucosa and submucosa are sucked into the suction device, and a self-
contained cylindrical knife cuts off the tissue.
o The distinct advantage of the suction biopsy is that it can be easily performed
at the bedside.
o However, pathologically diagnosing Hirschsprung disease from samplesobtained by suction biopsies is considerably more difficult than
pathologically diagnosing Hirschsprung disease from samples obtained by a
full-thickness biopsy.
o Ease of diagnosis has been improved with the use of acetylcholinesterase
staining, which intensely stains the hypertrophied nerve fibers throughout the
lamina propria and muscularis propria.
4. Histologic Findings
Both the myenteric (Auerbach) plexus and the submucosal (Meissner) plexus are
absent from the muscular layer of the bowel wall. Hypertrophied nerve trunksenhanced with acetylcholinesterase stain are also observed throughout the lamina
propria and muscularis propria. More recently, immunohistochemistry with
calretinin has also been used for histologic examination of aganglionic bowel, and
preliminary studies have suggested that it might be more accurate than
acetylcholinesterase in detecting aganglionosis
Guinard-Samuel et al evaluated the diagnostic value of calretinin immunochemistry
for Hirschsprung disease in 131 pediatric rectal biopsies. Of 131 biopsies, 130 were
accurately diagnosed based on calretinin staining. When an additional 12 cases
were considered doubtful based on the standard evaluation method, they were
accurately diagnosed with calretinin immunochemistry. One false-negative casewas that of Hirschsprung disease with a calretinin-positive biopsy. The
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investigators found calretinin superior to acetylcholinesterase to complete
histology.
TREATMENT
Medical Care
The general goals of medical care are 3-fold: (1) to treat the complications of
unrecognized or untreated Hirschsprung disease, (2) to institute temporary measures
until definitive reconstructive surgery can take place, and (3) to manage bowel
function after reconstructive surgery.
o Management of complications of recognized aganglionosis is directed toward
reestablishing normal fluid and electrolyte balance, preventing bowel
overdistension (with possible perforation), and managing complications, such as
sepsis. Thus, intravenous hydration, nasogastric decompression, and, as indicated,
administration of intravenous antibiotics remain the cornerstones of initial medical
management.o Because cardiac malformation (2-5%) and trisomy 21 (5-15%) are associated with
congenital aganglionosis, cardiac evaluation and genetic testing may be
warranted.
o Colonic lavage, consisting of mechanical irrigation with a large-bore rectal tube
and large volumes of irrigant, may be required.
o Balanced salt solutions may help prevent electrolyte imbalances.
o Nasogastric decompression, intravenous fluids, antibiotics, and colonic lavage
may also need to be used in postoperative patients who develop enterocolitis as a
complication. Sodium cromoglycate, a mast cell stabilizer, has been reported to be
of benefit in these patients as well.o Routine colonic irrigation and prophylactic antibiotic therapy have been proposed
as a means of decreasing the risk of enterocolitis.
o Injecting the nonrelaxing internal sphincter mechanism with botulinum toxin
(BOTOX) has been shown to induce more normal patterns of bowel movements
in postoperative patients with enterocolitis.
Surgical Care
Surgical management of Hirschsprung disease begins with the initial diagnosis,
which often requires a full-thickness rectal biopsy. Traditionally, treatment also
includes creating a diverting colostomy at the time of diagnosis, and, once the child
grows and weighs more than 10 kg, the definitive repair is performed.
This standard of treatment was developed in the 1950s after reports of relatively
high leak and stricture rates with the single stage procedure were initially described
by Swenson. However, with the advent of safer anesthesia and more advanced
hemodynamic monitoring, a primary pull-through procedure without a diverting
colostomy is increasingly being performed. Contraindications to a one-stage
procedure include massively dilated proximal bowel, severe enterocolitis,
perforation, malnutrition, and inability to accurately determine the transition zone
by frozen section.
For neonates who are first treated with a diverting colostomy, the transition zone isidentified and the colostomy is placed proximal to this area. The presence of
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ganglion cells at the colostomy site must be unequivocally confirmed by a frozen-
section biopsy. Either a loop or end stoma is appropriate, usually based on the
surgeon's preference.
A number of definitive procedures have been used, all of which have demonstrated
excellent results in experienced hands. The 3 most commonly performed repairs arethe Swenson, Duhamel, and Soave procedures. Regardless of the pull-through
procedure chosen, cleaning the colon before definitive repair is necessary.
Swenson procedure
The Swenson procedure was the original pull-through procedure used to
treat Hirschsprung disease
The aganglionic segment is resected down to the sigmoid colon and the
remaining rectum, and an oblique anastomosis is performed between the
normal colon and the low rectum.
Duhamel procedure
The Duhamel procedure was first described in 1956 as a modification to the
Swenson procedure.
Key points are that a retrorectal approach is used and a significant portion
of aganglionic rectum is retained.
The aganglionic bowel is resected down to the rectum, and the rectum is
oversewn. The proximal bowel is then brought through the retrorectal space
(between the rectum and sacrum), and an end-to-side anastomosis is
performed on the remaining rectum.
Soave (endorectal) procedure
The Soave procedure was introduced in the 1960s and consists of removing
the mucosa and submucosa of the rectum and pulling the ganglionic bowelthrough the aganglionic muscular cuff of the rectum.
The original operation did not include a formal anastomosis, relying on scar
tissue formation between the pull-through segment and the surrounding
aganglionic bowel. The procedure has since been modified by Boley to
include a primary anastomosis at the anus.
Anorectal myomectomy
For children (and occasionally adults) with ultrashort-segment
Hirschsprung disease, removing a strip of posterior midline rectal wall is an
alternative surgical option.
The procedure removes a 1-cm wide strip of extramucosal rectal wallbeginning immediately proximal to the dentate line and extending to the
normal ganglionic rectum proximally.
The mucosa and submucosa are preserved and closed.
Procedures for long-segment Hirschsprung disease
Patients with total colonic involvement require modified procedures to
bypass the aganglionic colon yet preserve the absorptive surface area and
allow for proper growth and nutritional support.
Most procedures include a side-to-side anastomosis of the
ganglionic/propulsive small bowel to a short segment of the
aganglionic/absorptive colon.
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Whether a short right colonic patch or a small bowel-to-rectal wall
Duhamel anastomosis is created is perhaps less important than maintaining
a short patch length (< 10 cm).
Long-segment anastomoses, such as the Martin procedure, are no longer
advocated.
A laparoscopic approach to the surgical treatment of Hirschsprung disease wasfirst described in 1999 by Georgeson.The transition zone is first identified
laparoscopically, followed by mobilization of the rectum below the peritoneal
reflection. A transanal mucosal dissection is performed, followed by prolapsing
of the rectum through the anus and anastomosis. Functional outcomes appear to
be equivalent to open techniques based on short-term results.
Transanal pull-through in which no intra-abdominal dissection is performed has
also been described.The entire procedure is performed from below in a manner
similar to perineal rectosigmoidectomy. The transition zone is identified and
anastomosis is performed. Similar to the laparoscopic approach, outcomes have
been similar to open single stage approaches with the benefits of minimalanalgesia and shortened hospital stays.
However, a retrospective study among 41 patients, comparing the transanal
pull-through approach to the transabdominal approach, demonstrated a
significantly higher rate of incontinence with the transanal approach.Whether or
not these findings will be reproducible in larger, prospective trials remains to be
determined.
The possibility of stem cell transplantation into the aganglionic gut and the
reactivation of dormant stem cells in the gut to regenerate the enteric nervous
system are being actively investigated. Experiments have demonstrated that
neural crest stem cells (NCSC) are present, even in the adult gut, and are
capable of proliferation and differentiation. In addition, researchers have beenable to inject neural crest stem cells and later identify them in the native rectum.
Whether or not injected stem cells or reactivated native progenitor cells will
have the capability to recreate a functional enteric nervous system remains to be
elucidated.
Diet
The patient should have nothing by mouth before the operation.
Institute tube feeding or formula/breast milk once bowel function resumes.
High-fiber diets and diets containing fresh fruits and vegetables may optimize
postoperative bowel function in certain patients.Activity
Limit physical activity for about 6 weeks to allow the wound to heal properly (applies
more to older children).
Medication
The goals of pharmacotherapy are to eradicate infection, to reduce morbidity, and to
prevent complications.
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Antibiotics
Empiric antimicrobial therapy must be comprehensive and cover all likely pathogens in
the context of this clinical setting. Antibiotic selection should be guided by blood
culture sensitivity whenever feasible.
o Ampicilin
Bactericidal activity against susceptible organisms. Alternative to amoxicillin
when unable to take medication orally.
o Gentamicin
Aminoglycoside antibiotic for gram-negative coverage. Used in combination
with both an agent against gram-positive organisms and one that covers
anaerobes. Not the DOC. Consider if penicillins or other less-toxic drugs are
contraindicated, when clinically indicated, and in mixed infections caused by
susceptible staphylococci and gram-negative organisms.
Dosing regimens are numerous; adjust dose based on CrCl and changes in
volume of distribution. May be administered IV/IM.
o Metronidazole
Imidazole ring-based antibiotic active against various anaerobic bacteria and
protozoa. Used in combination with other antimicrobial agents (except for
Clostridium difficile enterocolitis).
Toxins
Induce more normal patterns of bowel movements in postoperative patients with
enterocolitis.
o Onabotulinum toxin(BOTOX)
Binds to receptor sites on motor nerve terminals and inhibits release of
acetylcholine, which in turn inhibits transmission of impulses in neuromuscular
tissue.
Further Inpatient Care
If a diverting colostomy is created in a newborn, he or she must remain in the hospital
until the ostomy is functioning and feeding goals are obtained. Feedings are usually
initiated 24-48 hours after the creation of the colostomy.
After the definitive pull-through procedure is performed, the patient is hospitalized until
full feedings are possible and evidence of the return of bowel function is obtained.
Patients are to take nothing by mouth, with intravenous fluid hydration until they pass
flatus or have a bowel movement. Once this occurs, clear liquids may be started, and the
diet may be advanced until feeding goals are obtained. Intravenous antibiotics are also
continued until evidence of proper bowel function is observed.
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Further Outpatient Care
After a definitive pull-through procedure is performed, normal growth and
development should ensue.
Patients should be monitored for normal bowel habits. Patients with no other
underlying disorders and no postoperative complications should develop normal
bowel habits. However, such habits may not develop until the patient is older.
Inpatient & Outpatient Medications
Immediately after the diverting colostomy is created or a definitive pull-through
procedure is performed, patients should usually remain on broad-spectrum
intravenous antibiotics (eg, ampicillin, gentamicin, metronidazole) until bowel
function has returned and feeding goals are achieved.
Once a definitive pull-through procedure is performed and normal bowel function is
obtained, no additional medication is required.
Transfer
Neonates and older children thought to have Hirschsprung disease should be treatedin a center where pediatric specialists are available to make the diagnosis and to
provide definitive care.
Prevention
Hirschsprung disease cannot be prevented; however, heightened clinical awareness
prevents a delay in diagnosis.
Complications
Potential complications for the complex operations associated with Hirschsprung
disease encompass the entire spectrum of GI surgical complications.
Although the incidence rates of these complications are roughly the same when
surgeons with experience perform the procedures versus when surgeons with lessexperience perform them, each procedure has been associated with a specific level
of difficulty.
Complications may include an increased incidence of postoperative enterocolitis
with the Swenson procedure, constipation following the Duhamel repair, and
diarrhea and incontinence with the Soave pull-through procedure.
In general, the complications are anastomotic leakage and stricture formation (5-
15%), intestinal obstruction (5%), pelvic abscess (5%), wound infection (10%), and
wound dehiscence and incomplete resection requiring re-operation (5%). Patients
with 2-staged operations may also develop stomal complications, such as prolapse
or stricture.
Later complications associated with surgical management of Hirschsprung disease
include enterocolitis, continued obstructive symptoms, incontinence, chronic
constipation (6-10%), and late mortality, mostly affecting patients with long-
segment disease (1-5%). Rectovesical fistulas have also been reported in the
literature.
Enterocolitis accounts for significant morbidity and mortality in patients with
Hirschsprung disease.
Enterocolitis results from an inflammatory process of the mucosa of the colon or
small intestine. As the disease progresses, the lumen of the intestine becomes filled
with fibrinous exudate and is at increased risk for perforation. This process may
occur in both the aganglionic and ganglionic portion of the bowel.
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Patients typically present with explosive diarrhea, abdominal distention, fever,
vomiting, and lethargy.
Approximately 10-30% of patients with Hirschsprung disease develop enterocolitis.
Long-segment disease is associated with an increased incidence of enterocolitis.
Moreover, the risk of developing enterocolitis remains despite surgical correction.
Treatment consists of intravenous antibiotics and aggressive colonic irrigations.Some authorities advocate decompression of the bowel, especially in patients with
long-segment disease, with an enterostomy placed proximally to the transition zone.
Patients may present postoperatively with abdominal distension, vomiting, or
constipation indicative of ongoing obstruction.
Mechanical obstruction can be easily diagnosed with digital rectal exam and barium
enema. Serial dilatations or even revision of the pull-through may be required.
Persistent aganglionosis occurs rarely and may be due to pathologic error,
inadequate resection, or loss of ganglion cells after the pull-through. If a rectal
biopsy does not show ganglion cells, revision of the pull-through must be done.
Motility disorders may be associated with Hirschsprung disease. Workup may
include contrast studies, manometry, and biopsy to evaluate for intestinal neuronal
dysplasia.
Internal sphincter achalasia may result in persistent obstruction. This can be treated
with internal sphincterotomy, intrasphincteric botulinum toxin, or nitroglycerin
paste. Most cases will resolve by the age of 5 years.
Functional megacolon may be present due to stool-holding behavior. Bowel
management regimens may be implemented with cecostomy and antegrade enemas
reserved for refractory cases.
Incontinence may be the result of abnormal sphincter function, decreased sensation,
or overflow incontinence secondary to constipation.In general, anorectal
manometry and ultrasound should aid in differentiating between these diagnoses.Prognosis
The long-term outcome after definitive repair of Hirschsprung disease is difficult to
determine because of conflicting reports in the literature. Some investigators report
a high degree of satisfaction, while others report a significant incidence of
constipation and incontinence.
Unfortunately, approximately 1% of patients with Hirschsprung disease require a
permanent colostomy to correct incontinence.
As expected, patients with associated trisomy 21 tend to have poorer clinical
outcomes.
In general, more than 90% of patients with Hirschsprung disease have satisfactory
outcomes, although many patients may have disturbances of bowel function for
several years before developing normal continence
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2.2 INTUSSUSCEPTION
Background
Intussusception is a process in which a segment of intestine invaginates into the
adjoining intestinal lumen, causing bowel obstruction. A common cause of abdominal
pain in children, intussusception is suggested readily in pediatric practice based on a
classic triad of signs and symptoms: vomiting, abdominal pain, and passage of blood per
rectum.
Intussusception presents in 2 variants: idiopathic intussusception, which usually starts at
the ileocolic junction and affects infants and toddlers, and enteroenteral intussusception
(jejunojejunal, jejunoileal, ileoileal), which occurs in older children. The latter is
associated with special medical situations (eg, Henoch-Schnlein purpura [HSP], cystic
fibrosis, hematologic dyscrasias) or may be secondary to a lead point and occasionally
occur in the postoperative period. Intussusception is demonstrated in the images below.
Etiology and Pathophysiology
The pathogenesis of idiopathic intussusception is not well established. It is believed to
be secondary to an imbalance in the longitudinal forces along the intestinal wall. In
enteroenteral intussusception, this imbalance can be caused by a mass acting as a lead
point or by a disorganized pattern of peristalsis (eg, an ileus in the postoperative period).
As a result of imbalance in the forces of the intestinal wall, an area of the intestine
invaginates into the lumen of adjacent bowel. The invaginating portion of the intestine
(ie, the intussusceptum) completely telescopes into the receiving portion of the
intestine (ie, the intussuscipiens). This process continues and more proximal areas
follow, allowing the intussusceptum to proceed along the lumen of the intussuscipiens.
If the mesentery of the intussusceptum is lax and the progression is rapid, the
intussusceptum can proceed to the distal colon or sigmoid and even prolapse out the
anus. The mesentery of the intussusceptum is invaginated with the intestine, leading to
the classic pathophysiologic process of any bowel obstruction.
Early in this process, lymphatic return is impeded; then, with increased pressure within
the wall of the intussusceptum, venous drainage is impaired. If the obstructive process
continues, the pressure reaches a point at which arterial inflow is inhibited, and
infarction ensues. The intestinal mucosa is extremely sensitive to ischemia because it is
farthest away from the arterial supply. Ischemic mucosa sloughs off, leading to the
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heme-positive stools and subsequently to the classic "currant jelly stool" (a mixture of
sloughed mucosa, blood, and mucus). If untreated, transmural gangrene and perforation
of the leading edge of the intussusceptum occur.
Lead Points
In approximately 2-12% of children with intussusception, a surgical lead point is found.
Occurrence of surgical lead points increases with age and indicates that the probability
of nonoperative reduction is highly unlikely. Examples of lead points are as follows:
Meckel diverticulum
Enlarged mesenteric lymph node
Benign or malignant tumors of the mesentery or of the intestine, including
lymphoma, polyps, ganglioneuroma, and hamartomas associated with Peutz-
Jeghers syndrome
Mesenteric or duplication cysts
Submucosal hematomas, which can occur in patients with HSP and coagulation
dyscrasias
Ectopic pancreatic and gastric rests
Inverted appendiceal stumps
Sutures and staples along an anastomosis
Intestinal hematomas secondary to abdominal trauma
Foreign body Hemangioma
Kaposi sarcoma
Post-transplantation lymphoproliferative disorder (PTLD)
Henoch-Schnlein purpura
Children with HSP often present with abdominal pain secondary to vasculitis in the
mesenteric, pancreatic, and intestinal circulation. If pain precedes cutaneous
manifestations, differentiating HSP from appendicitis, gastroenteritis, intussusception,
or other causes of abdominal pain is difficult.
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Occasionally, children with HSP develop submucosal hematomas, which can act as lead
points and cause small bowel intussusception. Elucidating the cause of the pain is
essential in any child in whom HSP is suspected.
Since the intussusception associated with HSP is usually enteroenteral (small bowel to
small bowel), these patients require surgery rather than an enema.
During the initial investigation, obtain supine and upright plain radiographs of the
abdomen to identify the small bowel obstruction associated with intussusception. If
radiographic findings are normal, assume the patient with HSP has mesenteric vasculitis
and treat with steroids.
Hemophilia and other coagulation disorders
Patients with hemophilia and other bleeding disorders may develop intestinal
submucosal hematomas, leading to intussusception. Differential diagnosis includes
retroperitoneal hemorrhage in addition to other usual causes of abdominal pain.
Radiographs of the abdomen should reveal a pattern of small bowel obstruction if
intussusception is present. In the absence of intussusception, treatment is supportive
with correction of coagulopathy.
Postoperative intussusceptions
Intussusception is a rare postoperative complication, occurring in 0.08-0.5% of
laparotomies. It can take place independently of the site of the operation. The likely
mechanism is due to a difference in activity between segments of the intestine
recovering from an ileus, which produces the intussusception. Intussusception is
suggested in any postoperative patient who has a sudden onset of a small bowel
obstruction after a period of ileus, usually within the first 2 weeks after surgery.Intestinal obstruction secondary to adhesions usually occurs more than 2 weeks after the
operation. The treatment is prompt operative reduction.
Indwelling catheters
Very rarely, indwelling jejunal catheters can lead to intussusception by acting as a lead
point, which is especially true if the tip of the catheter has been manipulated or cut so
that its surface is not smooth. The clinical picture is that of a small bowel obstruction.
Diagnosis can be facilitated by injecting contrast proximal to the catheter and then
through the tip of the catheter. Surgery is required to remove the tip of the catheter and
to reduce the intussusception.
Cystic fibrosis
Intussusception occurs in approximately 1% of patients with cystic fibrosis.
Intussusception is assumed to be precipitated by the thick, inspissated stool material that
adheres to the mucosa and acts as a lead point. Often, the course is indolent and chronic.
Differential diagnosis includes distal intestinal obstruction syndrome and appendicitis.
The majority of these patients require operative reduction.
Other causes
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Electrolyte derangements associated with various medical conditions can produce
aberrant intestinal motility, leading to enteroenteral intussusception.
Experimental studies in animals showed that abnormal intestinal release of nitric oxide,
an inhibitory neurotransmitter, caused relaxation of the ileocecal valve, predisposing to
ileocecal intussusception.
Other studies have demonstrated that certain antibiotics causeileal lymphoid hyperplasia and intestinal dysmotility, with resultant intussusception.
A viral etiology has also been implicated. A seasonal variation in the incidence of
intussusception that corresponds to the peaks in frequency of gastroenteritis (spring and
summer) and respiratory illnesses (midwinter) has been described. Lappalainen et al
have studied prospectively the role of viral infections in the pathogenesis of
intussusception. They concluded that the simultaneous presence of human herpesvirus-6
and adenovirus infections appeared to correlate with risk for intussusception.
An association was found between the administration of a rotavirus vaccine
(RotaShield) and the development of intussusception. RotaShield has since beenremoved from the market. These patients were younger than usual for idiopathic
intussusception and were more likely to require operative reduction. It was hypothesized
that the vaccine caused reactive lymphoid hyperplasia, which acted as a lead point.
In February 2006, a new rotavirus vaccine [RotaTeq] was approved by the US Food and
Drug Administration [FDA]. RotaTeq did not show an increased risk for intussusception
compared with placebo in clinical trials.A study that involved more than 63,000 patients
who received Rotarix or placebo at ages 2 and 4 months reported a decreased risk for
intussusception in those patients receiving Rotarix.
Analysis of data from the Kids Inpatient Database in the United States has shown alower than expected rate of hospital discharges for intussusception in infants since the
reintroduction of the rotavirus vaccine in 2006.
Familial occurrence of intussusception has been reported in a few cases. Intussusception
in dizygotic twins has also been described; however, these reports are extremely rare.
Idiopathic
In most infants and toddlers with intussusception, the etiology is unclear. This group is
believed to have idiopathic intussusception. One theory to explain the possible etiology
of idiopathic intussusception is that it occurs because of an enlarged Peyer patch; this
hypothesis is derived from 3 observations: (1) often, the illness is preceded by an upper
respiratory infection, (2) the ileocolic region has the highest concentration of lymph
nodes in the mesentery, and (3) enlarged lymph nodes are often observed in patients
who require surgery. Whether the enlarged Peyer patch is a reaction to the
intussusception or a cause of it is unclear.
Epidemiology
A wide geographic variation in incidence of intussusception among countries and cities
within countries makes determining a true prevalence of the disease difficult. Studies on
the absolute prevalence of intussusception in the United States are not available. Its
estimated incidence is approximately 1 case per 2000 live births. In Great Britain,incidence varies from 1.6-4 cases per 1000 live births.
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Overall, the male-to-female ratio is approximately 3:1. With advancing age, gender
difference becomes marked; in patients older than 4 years, the male-to-female ratio is
8:1.
Two thirds of children with intussusception are younger than 1 year; most commonly,
intussusception occurs in infants aged 5-10 months. Intussusception is the mostcommon cause of intestinal obstruction in patients aged 5 months to 3 years.
Intussusception can account for as many as 25% of abdominal surgical emergencies in
children younger than 5 years, exceeding the incidence of appendicitis. Although
extremely rare, intussusception has been reported in the neonatal period.
Prognosis
The prognosis in patients with intussusception is excellent if the condition is diagnosed
and treated early; otherwise, severe complications and death may occur.
The recurrence rate of intussusception after nonoperative reduction is usually less than10% but has been reported to be as high as 15%.Most intussusceptions recur within 72
hours of the initial event; however, recurrences have been reported as long as 36 months
later. More than 1 recurrence suggests the presence of a lead point. A recurrence is
usually heralded by the onset of the same symptoms as appeared during the initial event.
Provide similar treatment for a recurrence unless the suggestion of a lead point is very
strong (in which case, surgical exploration should be contemplated).
The recurrence rates after air enema and barium enema are 4% and 10%, respectively.
Recurrences respond to nonoperative reduction in almost 95% of cases.
Complications associated with intussusception, which rarely occur when the diagnosis isprompt, include the following:
Perforation during nonoperative reduction
Wound infection
Internal hernias and adhesions causing intestinal obstruction
Sepsis from undetected peritonitis (major complication from a missed diagnosis)
Intestinal hemorrhage
Necrosis and bowel perforation
Recurrence
With early diagnosis, appropriate fluid resuscitation, and therapy, the mortality ratefrom intussusception in children is less than 1%. If left untreated, this condition is
uniformly fatal in 2-5 days.
History
The constellation of signs and symptoms of intussusception represents one of the
most classic presentations of any pediatric illness; however, the classic triad of
vomiting, abdominal pain, and passage of blood per rectum occurs in only one third of
patients. The patient is usually an infant who presents with vomiting, abdominal pain,
passage of blood and mucus, lethargy, and a palpable abdominal mass. These symptoms
are often preceded by an upper respiratory infection.
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In rare circumstances, the parents report 1 or more previous attacks of abdominal pain
within 10 days to 6 months prior to the current episode. These patients are more likely
to have a surgical lead point causing recurrent attacks of intussusception with
spontaneous reduction.
Pain in intussusception is colicky, severe, and intermittent. The parents or caregiversdescribe the child as drawing the legs up to the abdomen and kicking the legs in the air.
In between attacks, the child appears calm and relieved.
Initially, vomiting is nonbilious and reflexive, but when the intestinal obstruction
occurs, vomiting becomes bilious. Any child with bilious vomiting is assumed to have a
condition that must be treated surgically until proven otherwise.
Parents also report the passage of stools that look like currant jelly. This is a mixture of
mucus, sloughed mucosa, and shed blood. Diarrhea can also be an early sign of
intussusception.
Lethargy is a relatively common presenting symptom with intussusception. The reason
lethargy occurs is unknown, because lethargy has not been described with other forms
of intestinal obstruction. Lethargy can be the sole presenting symptom, which makes the
diagnosis challenging. Patients are found to have an intestinal process late, after
initiation of a septic workup.
In a prospective observational study, Weihmiller et al evaluated several clinical criteria
to risk-stratify children with possible intussusception. This study identified that age
older than 5 months, male sex, and lethargy were 3 important clinical predictors of
intussusception.
Physical Examination
Upon physical examination, the patient is usually chubby and in good health.
Intussusception is uncommon in children who are malnourished. The child is found to
have periods of lethargy alternating with crying spells, and this cycle repeats every 15-
30 minutes. The infant can be pale, diaphoretic, and hypotensive if shock has occurred.
The hallmark physical findings in intussusception are a right hypochondrium sausage-
shaped mass and emptiness in the right lower quadrant (Dance sign). This mass is hard
to detect and is best palpated between spasms of colic, when the infant is quiet.
Abdominal distention frequently is found if obstruction is complete.
If intestinal gangrene and infarction have occurred, peritonitis can be suggested on the
basis of rigidity and involuntary guarding.
Early in the disease process, occult blood in the stools is the first sign of impaired
mucosal blood supply. Later on, frank hematochezia and the classic currant jelly stools
appear. Fever and leukocytosis are late signs and can indicate transmural gangrene and
infarction.
Patients with intussusception often have no classic signs and symptoms, which can lead
to an unfortunate delay in diagnosis and disastrous consequences.
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Maintaining a high index of suspicion for intussusception is essential when evaluating a
child younger than 5 years who presents with abdominal pain or when evaluating a child
with HSP or hematologic dyscrasias.
Diagnostic Considerations
In rare circumstances, intussusception presents with prolapse of the intussusceptum
through the anus. Such prolapse can be confused with rectal prolapse. Careful
examination can differentiate between the 2 presentations, as follows:
The anal crypts are everted with rectal prolapse and not with intussusception
An examining finger can be passed between the prolapse and the anus in patients
with intussusception but not in patients with rectal prolapse
Conditions to consider in the differential diagnosis of intussusception, along with those
in the next section, include the following:
Milk allergy
Incarcerated hernia
Internal hernia
Other, rare causes of intestinal obstruction
Adhesive band
Volvulus
Meckel diverticulum
Any process causing abdominal pain or GI bleeding
Differential Diagnoses
Appendicitis
Blunt Abdominal Trauma in Emergency Medicine
Colic
Cyclic Vomiting Syndrome
Gastroenteritis
Hernias
Testicular Torsion in Emergency Medicine
Volvulus
Workup
Laboratory investigation is usually not helpful in the evaluation of patients with
intussusception, although leukocytosis can be an indication of gangrene if the process is
advanced. With persistent vomiting and sequestration of fluid in the obstructed bowel,
dehydration and electrolyte imbalance occur.
Ultrasonographic imaging has been found to have a high sensitivity and specificity in
the detection of ileocolic intussusception. Abdominal radiographs can also reveal
diagnostic characteristics of intussusception, but their sensitivity and specificity has
been called into question.
If a segment of intestine is resected at the time of operative reduction, intestinal
obstruction with edema, congestion, lymphocytic infiltration, and transmural infarction
are typical findings.
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1. Radiographs
After obtaining a thorough history and performing a careful physical examination,
obtain plain radiographs of the abdomen with the patient in the supine and upright
positions.
Plain abdominal radiography reveals signs that suggest intussusception in only 60% of
cases. (See the images below.) Plain radiograph findings may be normal early in the
course of intussusception.As the disease progresses, the earliest radiographic evidence
includes an absence of air in the right lower and upper quadrants and a right upper
quadrant soft tissue density present in 25-60% of patients.
Abdominal radiograph shows small bowel dilatation and paucity of gas in the right
lower and upper quadrants. Note intussusception in the left upper quadrant on this plain
film of an infant with pain vomiting. Courtesy of Dr. Kelly Marshall, Children's
Healthcare of Atlanta at Scottish Rite.
These findings are followed by an obvious pattern of small bowel obstruction, with
dilatation and air-fluid levels in the small bowel only. If the distention is generalized
and the air-fluid levels are also present in the colon, the findings more likely represent
acute gastroenteritis than intussusception.
A left lateral decubitus view is also helpful.If the view exhibits air in the cecum, the
presence of ileocecal intussusception is highly unlikely.
Limitations of radiography
Morrison et al concluded that, when interpreted by pediatric emergency physicians,
abdominal radiographs have a low sensitivity and specificity for diagnosing
intussusception.In a prospective experimental study, 14 pediatric emergency physicians
interpreted radiographs of 50 cases of intussusception and 50 matched controls; these
interpretations showed a sensitivity of 48% and a specificity of 21%. In 11% of cases,
the abdominal radiographs were incorrectly interpreted as reassuring.
2. Ultrasonography and CT Scanning
Hallmarks of ultrasonography include the target and pseudokidney signs.
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Abdominal ultrasonography reveals the classic target sign of an intussusceptum inside
an intussuscipiens.
One study reported that the overall sensitivity and specificity of ultrasonography for
detecting ileocolic intussusception was 97.9% and 97.8%, respectively. The authors
concluded that ultrasonography should be used as a first-line examination for the
assessment of possible pediatric intussusception.
Ultrasonography eliminates the risk of exposure to ionizing radiation and can help to
depict lead points and residual intussusceptions. It also helps to rule out other possible
causes of abdominal pain. Even so, ultrasonography is highly operator dependent;
therefore, interpret results with caution.
The presence of ascites and long segments of intussusception can be used as
sonographic predictors of failure for nonoperative management. Sonographic detection
of ascites, air, and absence of blood flow in the intestinal wall strongly suggest bowel
gangrene.
Computed tomography (CT) scanning has also been proposed as a useful tool todiagnose intussusception (see the image below); however, CT scan findings are
unreliable, and CT scanning carries risks associated with intravenous contrast
administration, radiation exposure, and sedation.
CT scan reveals the classic ying-yang sign of an intussusceptum inside an
intussuscipiens.
3. Contrast Enema
The traditional and most reliable way to make the diagnosis of intussusception in
children is to obtain a contrast enema (either barium or air). Contrast enema is quick and
reliable and has the potential to be therapeutic.
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Barium enema shows intussusception in the descending colon. Intussusception evident
during air contrast enema prior to reduction. Courtesy of Dr. Kelly Marshall, Children's
Healthcare of Atlanta at Scottish Rite.
Exercise caution when performing contrast enema in children older than 3 years,
because most of these patients have a surgical lead point, usually in the small bowel.
The diagnostic and therapeutic yield of the enema is lower in these patients. Enema is
contraindicated in patients in whom bowel gangrene or perforation is suspected.
Treatment
From a clinical perspective, using a cutoff age of 3 years is helpful for dividing patients
with intussusception into 2 groups. Patients aged 5 months to 3 years who have
intussusception rarely have a lead point (ie, idiopathic intussusception) and are usuallyresponsive to nonoperative reduction. Older children and adults more often have a
surgical lead point to the intussusception and require operative reduction.
A decreased rate of operative intussusception management is noted in specialized
pediatric hospitals compared with nonpediatric hospitals. This is attributed to the
increased experience with and use of the various radiologic reduction techniques.
Intussusception seen in patients older than age 2-3 years may be associated with various
medical conditions or situations. The intussusception in these patients is usually small
bowel to small bowel; therefore, therapeutic enemas are less helpful and are usually
unsuccessful.
A few hours after nonoperative reduction, start the infant on a regular age-appropriate
diet as tolerated. If operative reduction was performed, advance the diet as with any
postoperative patient.
The only limitations on activity after the treatment of intussusception are those imposed
by the postoperative state.
Nonoperative Reduction
Tailor treatment of the child with intussusception to the stage at presentation. For
all children, start intravenous fluid resuscitation and nasogastric decompression assoon as possible.
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The presence of peritonitis and any evidence of perforation revealed on plain
radiographs are the only 2 absolute contraindications to an attempt at nonoperative
reduction with a therapeutic enema. Therapeutic enemas can be hydrostatic, with
either barium or water-soluble contrast, or pneumatic, with air insufflation.
Therapeutic enemas can be performed under fluoroscopic or ultrasonographic
guidance. The technique chosen is not important as long as the radiologistperforming the enema is comfortable with the method. Preferably, the pediatric
surgeon involved is present at the reduction.
Since Harald Hirschsprungs description of a systematic approach to hydrostatic
reduction of intussusception, the reported success rate of this nonoperative
intervention has widely varied (< 40% to >90%). This variability in outcome attests
to the various factors involved in successful hydrostatic reduction. Among these are
factors that are individual to the patient (age, duration of symptoms, presence of
lead points) and others that depend on the technique used. Paramount among the
latter category is the availability of a team of pediatric surgeons and radiologists
with the necessary expertise, determination, and dedication. Even among pediatricradiologists, consensus has been lacking on methodologic issues, including the
choice of reducing agent, the type of catheter, the role of the external manipulation
of the abdomen, the use of medications, and the establishment of guidelines for
pressure limits and number of attempts.
Air enema is the treatment of choice in many institutions. The risk of major
complications with this technique is small. Its success is decreased, as with other
reducing agents, in patients with small bowel intussusceptions and in those with
prolapsing intussusceptions. When performing a therapeutic enema, the
recommended pressure of air insufflation should not exceed 120 cm of water. When
using barium or water-soluble contrast, the column of contrast should not exceed100 cm above the level of the buttocks.
Traditionally, an attempt was not considered successful until the reducing agent,
whether air, barium, or water-soluble contrast, was observed refluxing back into the
terminal ileum, but evidence has shown that this is not entirely necessary. Most
intussusceptions that failed to show reflux into the ileum were due to either an
edematous or competent ileocecal valve. When these patients were explored, they
displayed a completely reduced intussusception. According to this study, a patient
who becomes asymptomatic after nonoperative reduction that fails to show reflux
of the reducing agent into the ileum can safely be observed.
The value of repeated attempts at nonoperative reduction, if the first attempt is
unsuccessful, has not been determined. Some clinicians recommend taking the
patient to surgical care if the first attempt fails, and other clinicians advocate 1 or 2
subsequent attempts within a few minutes to a few hours after the first attempt.
Delay between the reduction attempts may place the patient in the "window" of
spontaneous resolution, which has been reported with an incidence of 5-6%. In
addition, the first attempt can reduce the intussusception partially, making the
intussusceptum less edematous, with improved venous drainage.
Some reports have postulated that reduced bowel edema with improved venous
drainage is one of the reasons why the success rate of hydrostatic reduction
increases with the administration of a second enema. If repeated attempts are
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unsuccessful, any progress in pushing back the intussusceptum toward the ileocecal
valve during operative reduction is advantageous. Delay in performing surgery
because of additional attempts at nonoperative reduction has been demonstrated to
have no adverse effects on the rates of success of operative reduction and patient
morbidity.
When therapeutic enema is successful, the results are immediate and extremely
gratifying. The infant falls asleep almost immediately, and the obstruction is
relieved, allowing the resumption of a normal diet. A short period of overnight
observation usually is warranted before discharge.
Therapeutic enema is of no value in patients with small boweltosmall bowel
intussusception, which usually occurs in older children who have other associated
diseases (eg, HSP, hemophilia, Peutz-Jeghers syndrome, malignancies).
Intussusception in the first month of life is rare. Most of these patients are found to
have a surgical lead point; therefore, enemas are rarely successful and arepotentially dangerous.
Surgical Reduction
If nonoperative reduction is unsuccessful or if obvious perforation is present,
promptly refer the infant for surgical care.
Traditional entry into the abdomen is through a right paraumbilical incision.
Deliver the intussusception into the wound and attempt nonoperative reduction.
Milking the intussusceptum out of the intussuscipiens is important. Sustain gentle
manual pressure rather than pulling out the intussusceptum to avoid risk of
iatrogenic perforation. If operative reduction is successful, appendectomy is often
performed if the blood supply of the appendix is compromised. A cecopexy is not
necessary. Risk of recurrence of the intussusception after operative reduction is less
than 5%.
If manual reduction is not possible or perforation is present, perform a segmental
resection with an end-to-end anastomosis. A diligent search for any lead points is
warranted, especially if the patient is older than 2-3 years.
Laparoscopy has been added to the surgical armamentarium in the treatment of
intussusception.Laparoscopy can be performed in all cases of intussusception.
Reduction of the intussusception, confirmation of radiologic reduction, and
detection of lead points have all been reported.
Laparoscopy is associated with faster recovery times, decreased length of stay,
decreased time to full feeds, and lower requirements of pain medication.
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Laparoscopic view of a jejuno-jejunal intussusception
Inpatient and Discharge Considerations
With toleration of diet, patients treated with nonoperative reduction are usually
discharged 12-18 hours after the therapeutic enema. After operative reduction,
postoperative progress dictates the length of stay.
Some have proposed patient discharge from the emergency department after a short
period of observation. Their recommendation is based on the fact that hospitalized
children after enema-reduced intussusceptions often require minimal interventions
and often have no serious enema-related complications. Obviously, the decision of
where to observe the patient must be made on an individual basis, keeping in mind
the small, but significant, recurrence rate.
Consultations, Monitoring, and Transfer
Involve a pediatric surgeon as early as possible to help coordinate the care and
resuscitation of the child. The availability of a pediatric radiologist enhances the
chances of successful nonoperative reduction.
Patients treated with nonoperative reduction usually do not require any specific
follow-up care unless problems exist. Postoperatively, patients require 1-2 visits to
the pediatric surgeon to check on the progress of healing.
Radiologic reduction is best performed with the surgeon on standby, because
complications may develop and require immediate surgery. This may require
transfer to a facility with a pediatric surgeon. The benefit of transfer must be
weighed against the delay in reduction
Medication
Drug therapy is not currently a component of the standard of care for intussusception.
Medications are limited to those used for pain control after surgery. In the immediate
postoperative period, weight-adjusted intravenous morphine is usually administered. As
the oral diet is resumed, acetaminophen with codeine or ibuprofen is given orally.
Patients with HSP or hemophilia and intussusception require standard therapy for the
individual disease. Some investigators have advocated the use of steroids in
intussusception secondary to HSP and lymphoid hyperplasia, with varied results.
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1. Opioid Analgesics
Class Summary
Opioid analgesics are used to control acute crisis and chronic pain.
An opioid analgesic, morphine interacts with endorphin receptors in the CNS.
Acetaminophen with codeine (Tylenol-3)
This is a mild narcotic analgesic. Provide the family with a small supply for use
when pain severity is greater than what can be managed with acetaminophen alone.
Counsel parents to use only for severe pain, not as the first medication for each
symptom.
2. Nonsteroidal Anti-Inflammatory Drugs
Class Summary
These agents add to the effects of opioids during painful crises and allow use of
lower doses of narcotics.
Ibuprofen is usually the drug of choice for the treatment of mild to moderate pain, if
no contraindications exist. It inhibits inflammatory reactions and pain by decreasing
the activity of the enzyme cyclo-oxygenase, resulting in inhibition of prostaglandin
synthesis.
2.3 ANORECTAL ANOMALIES (IMPERFORATE ANUS)
The normal continence mechanism for bowel control consists of an internal sphincter
composed of smooth muscle and the striated muscle complex from the levator ani and
external sphincter. The striated muscles assume a funnel shape, originating from the
pubis, pelvic rim, and sacrum. These muscles converge at the perineum whileinterdigitating with the internal and external sphincters. Most of the striated muscle
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complex consists of horizontal muscles that contract against the wall of the rectum and
anus while longitudinal muscle fibers run in a cephalocaudal direction and elevate the
anus.
Anomalies of the anus result from abnormal growth and fusion of the embryonic anal
hillocks. The rectum is normally developed, and the sphincter mechanism is usuallyintact. With proper surgical treatment, the sphincter will function normally. Anomalies
of the rectum develop as a result of faulty division of the cloaca into the urogenital sinus
and rectum by the urorectal septum. In these anomalies, the internal sphincter and
striated muscle complex are hypoplastic. Therefore, surgical repair results in varying
degrees of continence.
Classification
Physical examination of the perineum and imaging studies determine the extent of
malformation of the anus or rectum. When an orifice is evident at the perineum or distal
vagina, the anomaly is referred to as a low imperforate anus; the absence of an obvious
orifice at the perineal level suggests a high imperforate anus .In most instances, with
high imperforate anus, there is a communication (fistula) of the rectum with the urethra
or bladder in the male or with the upper vagina in the female. Distinguishing between a
high and low anomaly may be possible radiologically by determining the position of the
rectum in relation to the levator ani or pubococcygeal line.
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Low Anomalies
In low anomalies, the anus may be ectopically placed anterior to its normal position or it
may be in the normal position with a narrow outlet due to stenosis or an anal membrane.There may be no opening in the perineum, but the skin at the anal area is heaped up and
may extend as a band in the perineal raphe completely covering the anal opening. A
small fistula usually extends from the anus anteriorly to open in the raphe of the
perineum, scrotum, or penis in the male or the vulva in the female. These babies often
have well-developed perineal and gluteal musculature and rarely have sacral vertebral
anomalies.
High Anomalies
In high anomalies the rectum may end blindly (10%), but more commonly there is a
fistula to the urethra or bladder in the male or the upper vagina in the female. In thefemale, a very high fistula may extend between the two halves of a bicornuate uterus
directly to the bladder. Patients with high imperforate anus often have deficient pelvic
and gluteal innervation and musculature, a high incidence of sacral anomalies, and a
poor prognosis for continence after surgical repair. The most severe of the high
deformities is a cloacal anomaly in which there is a common channel between the
poorly developed pelvic structures (urogenital sinus and rectum) with a single perineal
opening.
Clinical Findings
Signs
The best means of establishing the type of anorectal anomaly is by physical
examination. In low anomalies, an ectopic opening from the rectum can be detected in
the perineal raphe in males or in the lower vagina, vestibule, or fourchette in females. A
high anomaly exists when no orifice or fistula can be seen upon examination of the
perineum or when meconium is found at the urethral meatus, in the urine, or in the
upper vagina. Absence of external sphincter contraction with cutaneous stimulation of
the anus may also help differentiate between high and low lesions.
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Imaging Studies
No single test is ideal in the evaluation of imperforate anus, so several studies are used
to define the neonatal anatomy. Radiographs are sometimes useful when the clinical
impression is unclear. A lateral film of the pelvis with the baby inverted (Wangensteen
invertogram), once commonly used, is an inaccurate method of establishing the lowerextent of the rectum because swallowed air may not have completely displaced the
meconium from the rectum; or the striated muscle complex may be contracted, which
obliterates the lumen and makes it look as if the gas in the rectum ends high in the
pelvis. With crying or straining, the puborectalis muscle and rectum may actually
descend below the ischium, giving a falsely low estimate of rectal height. Gas in the
bladder clearly indicates a rectourinary fistula. Lower abdominal and perineal
ultrasound, CT, and MRI have been used to define the pelvic anatomy and location in
relation to the rectal musculature. Anomalies of the vertebrae and the urinary tract occur
in two-thirds of all patients with high anomalies and in one-third of male patients with
low anomalies. Vertebral abnormalities in females invariably indicate a high
imperforate anus. Anomalies of the sacrum warrant MRI of the lumbosacral area toidentify spinal cord anomalies such as a tethered filum terminale.
Complications
Associated anomalies occur in up to 70% in those with a high anomaly. Imperforate
anus is associated with the VACTERL syndrome (see Esophageal Anomalies). The
possible constellation of anomalies includes esophageal atresia, anomalies of the
gastrointestinal tract, hemivertebrae or agenesis of one or more sacral vertebrae
(agenesis of S1, S2, or S3 is associated with corresponding neurologic deficits, resulting
in neuropathic bladder and greatly impaired continence), genitourinary anomalies (up to50% incidence with high imperforate anus), and anomalies of the heart and upper
limbs/digits.
Delay in diagnosis of imperforate anus may result in excessively large bowel distention
and perforation. The presence of a rectourinary fistula allows reflux of urine into the
rectum and colon, and absorption of ammonium chloride may cause acidosis. Colon
contents will reflux into the urethra, bladder, and upper tracts, producing recurrent
pyelonephritis.
Treatment
The three main goals of treatment are (1) to allow passage of stool (ie, relieve
obstruction), (2) to place the rectal pouch on the perineum in good position, and (3) to
close the fistula.
Low Anomalies
Low anomalies are usually repaired from the perineal approach in the newborn
period using a muscle stimulator to precisely determine the location of the sphincter
complex. The anteriorly placed anal opening is completely mobilized and
transferred to the normal position. After healing, the anal opening must be dilated
daily for 35 months to prevent stricture formation and to allow for growth.
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High Anomalies
Traditionally, a high deformity was treated by a three-stage repair consisting of
colostomy and mucous fistula formation, a posterior sagittal anorectoplasty 46
weeks later, and closure of the colostomy several months after that. Recently, the
staged approach has been challenged and a one-stage repair has been performed byboth posterior sagittal and a laparoscopic approaches. Because the anal sphincters
are poorly developedespecially the internal sphinctercontinence is most
dependent upon a functioning striated muscle complex, which requires conscious
voluntary contraction. Care must be taken to preserve the afferent and efferent
nerves of the defecation reflex arc as well as the existing sphincter muscles. In all
cases, the surgically created anus must be dilated for several months to prevent
circumferential cicatrix formation.
Prognosis
Surgical complications include damage to the nervi erigentes, resulting in poor bladder
and bowel control and failure of erection. Division of a rectourethral fistula some
distance from the urethra produces a blind pouch prone to recurrent infection and stone
formation, while cutting the fistula too short may result in urethral stricture. Erroneously
attempting to repair a high anomaly from the perineal approach may leave a persistent
rectourinary fistula. An abdominoperineal pull-through procedure performed for a low
anomaly invariably produces an incontinent patient who might otherwise have had an
excellent prognosis. Injury to the vas deferens and ureter is possible during repair of
high anomalies.
Patients with imperforate anus tend to have varying degrees of constipation as aninherent part of the defect, believed to be due to poor inherent motility of the
rectosigmoid. Patients with low anomalies usually have good sphincter function.
Children with high anomalies do not have an internal sphincter that provides
continuous, unconscious, and unfatiguing control against soiling. However, in the
absence of a lower spine anomaly, perception of rectal fullness, ability to distinguish
between flatus and stool, and conscious voluntary control of rectal discharge by
contraction of the striated muscle complex can be achieved. When the stools become
liquid, sphincter control is usually impaired in patients with high anomalies.
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2.4 OMPHALOCELE
Omphalokel is derived from the Greek language meaning Omphalos = umbilical cord
and cele means hernia forms. Omphalokel interpreted as a central defect in the
abdominal wall at the umbilicus ring area (umbilical ring) or umbilical ring so that there
is a herniation of the abdominal organs of the abdominal cavity but it is still covered by
a bag or membrane. Membrane consists of a layer of amnion and peritoneum.
This is a midline abdominal wall defect noted in 1:5000 live births. The abdominal
viscera (commonly liver and bowel) are contained within a sac composed of peritoneum
and amnion from which the umbilical cord arises at the apex and center. When the
defect is less than 4 cm, it is termed a hernia of the umbilical cord; when greater than 10
cm, it is termed a giant omphalocele. Associated abnormalities occur in 3070% of
infants and include, in descending order of frequency, chromosomal abnormalities
(trisomy 13, 18, 21), congenital heart disease (tetralogy of Fallot, atrial septal defect),
Beckwith-Wiedemann syndrome (large-for-gestational-age baby; hyperinsulinism;visceromegaly of kidneys, adrenal glands, and pancreas; macroglossia, hepatorenal
tumors, cloacal extrophy), pentalogy of Cantrell, and prune belly syndrome (absent
abdominal wall muscles, genitourinary abnormalities, cryptorchidism). Small
omphaloceles are most often linked to chromosomal defects and Beckwith-Wiedemann
syndrome, especially when the liver is not in the hernia sac.
Embryology
At the beginning of the 3rd week emrio development, the digestive tract is divided into
foregut, midgut and hindgut. This growth is closely linked with the folds embryos
(embryonic fold) that play a role in the formation of the abdominal wall. The em