Refrat Fidel Kelainan Kongenital

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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

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