CHAPTER 129 Intestinal Tract 487

Cyclic vomiting syndrome (CVS) presents with intermittent

episodes of prolonged nausea and vomiting with periods of
health in between. It can occur at any age but is diagnosed
most frequently in preschool to school-age children. It is
thought to be a migraine variant; many patients have a
positive family history of migraines, and some with CVS will
eventually develop migraine headaches. Triggers to an episode
often include viral illnesses, lack of sleep, stressful or exciting
events (holidays, birthdays, vacations), physical exhaustion,
and menses.
Treatment
For the acute episode, supportive treatment includes hydration;
dark, quiet environment; and antiemetics such as ondansetron.
In addition, abortive therapy using antimigraine medications
such as NSAIDs and triptans can be used. For those with
frequent or prolonged episodes, prophylactic therapy can be
used, such as cyproheptadine, tricyclic antidepressants, beta
blockers, or topiramate.

Clinical Manifestations
Episodes can start at any time but will often start in the early
morning hours. Episodes are similar to each other in timing
and duration. Repetitive vomiting can last hours to days. Patients
can also have abdominal pain, diarrhea, and headaches. Those
affected are typically pale, listless, and prefer to be left alone.
They may have photo- or phonophobia.
Laboratory and Imaging Studies
There are no specific tests for CVS, which is diagnosed based
on the history and the exclusion of other disorders. Diagnoses
that should be considered include malrotation with intermittent
volvulus, uteropelvic junction (UPJ) obstruction, EoE, intra-
cranial mass lesions, and metabolic disorders. Rome III criteria
for diagnosis are outlined in Table 126.5.
CHAPTER 129
Intestinal Tract
MALROTATION
Etiology and Epidemiology
During early fetal life, the midgut is attached to the yolk sac
and loops outward into the umbilical cord. Beginning at around
10 weeks’ gestation, the bowel re-enters the abdomen and rotates
counterclockwise around the superior mesenteric artery until
the cecum arrives in the right lower quadrant. The duodenum
rotates behind the artery and terminates at the ligament of
Treitz in the left upper quadrant. The base of the mesentery
becomes fixed along a broad attachment posteriorly, running
from the cecum to the ligament of Treitz (Fig. 129.1A). When

A B
FIGURE 129.1 (A) Normal rotation of the midgut. Note the long axis of mesenteric attachment
(line). (B) Midgut malrotation. Note the narrow mesentery, which predisposes to volvulus, and the
presence of Ladd bands extending across the duodenum from the abnormally elevated cecum. (From
Donellan WJ, ed. Abdominal Surgery of Infancy and Childhood. Luxembourg: Harwood Academic;
1996:43/6, 43/8.)
488 SECTION 17 DIGESTIVE SYSTEM
rotation is incomplete or otherwise abnormal, “malrotation”
is present. Incomplete rotation occurs when the cecum stops
near the right upper quadrant and the duodenum fails to move
behind the mesenteric artery; this results in an extremely narrow
mesenteric root (see Fig. 129.1B) that makes the child susceptible
to midgut volvulus, causing intestinal obstruction or mesenteric
artery occlusion and intestinal infarction (Fig. 129.2). It is also
common for abnormal mesenteric attachments (Ladd bands)
to extend from the cecum across the duodenum, causing partial
obstruction.
Clinical Manifestations
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Abdominal Pain
Vomiting
Gastrointestinal Bleeding
About 60% of children with malrotation present with symptoms
of bilious vomiting during the first month of life. The remaining
40% presents later in infancy or childhood. The emesis initially
may be due to obstruction by Ladd bands without volvulus.
When midgut volvulus occurs, the venous drainage of the gut
is impaired; congestion results in ischemia, pain, tenderness,
and often bloody emesis and stools. The bowel undergoes
ischemic necrosis, and the child may appear septic. Physicians
must be alert to the possibility of volvulus in patients with
vomiting and fussiness or abdominal pain.
Laboratory and Imaging Studies
Plain abdominal x-rays generally show evidence of obstruction.
Abdominal ultrasound may show evidence of malrotation. An
upper gastrointestinal (GI) series shows the absence of a typical
duodenal “C-loop,” with the duodenum instead remaining on
the right side of the abdomen. Abnormal placement of the
cecum on follow-through (or by contrast enema) confirms the
diagnosis. Laboratory studies are nonspecific, showing evidence
of dehydration, electrolyte loss, or evidence of sepsis. A decreas-
ing platelet count is a common indicator of bowel ischemia.
FIGURE 129.2 Malrotation with volvulus. Midgut is twisted around
the mesentery, with an area of darker, ischemic intestine visible.
(Courtesy Robert Soper, MD.)
Treatment
Treatment is surgical. The bowel is untwisted, and Ladd bands
and other abnormal membranous attachments are divided. The
mesentery is spread out and flattened against the posterior wall
of the abdomen by moving the cecum to the left side of the
abdomen. Sutures may be used to hold the bowel in position,
but postoperative adhesions tend to hold the mesentery in
place, resulting in a broad attachment and eliminating the risk
of recurrent volvulus. Necrotic bowel is resected and, at times,
results in short gut syndrome.
INTESTINAL ATRESIA
Etiology and Epidemiology
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Abdominal Pain
Vomiting
Congenital partial or complete blockage of the intestine is a
developmental defect that occurs in about 1 in 1,500 live births.
Atresia occurs in several forms (Fig. 129.3). One or more
segments of bowel may be missing completely, there may be
varying degrees of obstruction caused by webs or stenosis, or
there may be obliteration of the lumen in cordlike bowel
remnants. The end result is obstruction with upstream dilation
of the bowel and small, disused intestine distally. When obstruc-
tion is complete or high grade, bilious vomiting and abdominal
distention are present in the newborn period. In lesser cases,
as in “windsock” types of intestinal webs, the obstruction is
partial, and symptoms are more subtle. Duodenal atresia is
associated with other anomalies in more than half of infants.
Down syndrome is the most common associated disorder but
can also be associated with biliary, cardiac, renal, or vertebral
anomalies. Jejunal and ileal atresia can be seen in meconium
ileus secondary to cystic fibrosis.
Clinical Manifestations
Intestinal atresia presents with a history of polyhydramnios,
abdominal distention, and bilious vomiting in the neonatal
period. If intestinal perforation is present, peritonitis and sepsis
may develop.
Laboratory and Imaging Studies
Plain abdominal x-rays may localize the area of atresia and
identify evidence of perforation, such as free air or calcifications
typical of meconium peritonitis. Duodenal atresia appears as
a double-bubble sign (gas in the stomach and enlarged proximal
duodenum), with no gas distally. Atresias of the distal intestine
are characterized by longer segments of dilated, air-filled bowel.
Contrast studies are helpful if plain films are not sufficient.
Atresia may be a complication of meconium ileus associated
with cystic fibrosis. Laboratory evaluation for cystic fibrosis
(see Chapter 137) is indicated in cases of small bowel atresia.
A complete blood count, serum electrolytes, liver functions,
and amylase should be measured to identify dehydration,
pancreatitis, and other complications.
 CHAPTER 129 Intestinal Tract 489

A B

C D

E
FIGURE 129.3 Types of intestinal atresia. (A) Internal web; (B) cordlike remnant connecting proximal
and distal bowel; (C) interrupted bowel with V-shaped mesenteric defect; (D) “apple peel” atresia
with surviving bowel spiraling around a marginal artery; (E) multiple atresias. (From Grosfeld JL,
Ballantine TVN, Shoemaker R. Operative management of intestinal atresia based on pathologic findings.
J Pediatr Surg. 1979;14:368–375.)

Treatment closure, which sometimes must be performed in stages to fit

The treatment of intestinal atresia is surgical, but surgery must
be preceded by adequate hemodynamic stabilization of the
patient. Intravenous (IV) fluids, nasogastric suction, and broad-
spectrum antibiotics should be given.
OTHER CONGENITAL DISORDERS
Gastroschisis is an abdominal wall defect, not involving the
umbilicus, through which intestinal contents have herniated.
In contrast to omphalocele, the bowel is not covered by peri-
toneum or amniotic membrane. As a result, prolonged contact
with the amniotic fluid typically causes a thick, exudative
covering (a “peel”) on the exposed bowel. Gastroschisis is not
associated with extraintestinal anomalies, but segments of
intestinal atresia are common. After surgical reduction of the
defect, return of normal bowel function may be slow and requires
prolonged parenteral nutrition for infants with long atretic
segments (short-bowel syndrome) and infants with a thick peel.
Omphalocele is an abdominal wall defect through the
umbilicus caused by failure of the intestine to return to
the abdomen during fetal life. The bowel remains within the
umbilical cord and is covered by peritoneum and amniotic
membranes. This defect is associated with other congenital
anomalies, especially cardiac defects, Beckwith-Wiedemann
syndrome, and intestinal complications. Treatment is surgical
the bowel into a congenitally small abdominal cavity.
Anorectal malformations, including imperforate anus and
its variants, are embryological defects recognized at birth by the
absence of a normal anal opening. Evaluation of these infants
should include observation for emergence of meconium from the
urethra or fistulas on the perineum. A urinary catheter should be
placed if urinary distention is present. In low lesions, a fistulous
opening that drains meconium is present on the perineum.
Low lesions commonly are associated with fistulization between
the bowel and bladder, vagina, or urethra. Lateral plain x-rays
show the level of the defect and show gas in the bladder caused
by a fistula. Initial treatment is a colostomy to divert the fecal
flow, with subsequent reconstruction. The internal sphincter
muscle is functionally absent in high lesions, and continence
after repair is difficult to achieve. All children with imperfo-
rate anus require magnetic resonance imaging (MRI) of the
lumbosacral spinal cord because of high incidence of tethered
spinal cord. Urological dysfunction is common and should be
evaluated.
Hirschsprung disease is a motility defect caused by failure
of ganglion cell precursors to migrate into the distal bowel
during fetal life. The aganglionic distal segment does not exhibit
normal motility and is functionally obstructed secondary to
spasm. In 75% of cases, the involved segment is limited to the
rectosigmoid; total colonic involvement is seen in 8%. Rarely,
490 SECTION 17 DIGESTIVE SYSTEM

long segments of small bowel also are aganglionic. “Ultrashort” ethnic populations. Genetic factors play a role in susceptibility,
segment involves only a few centimeters of distal rectum. About with significantly higher risk if there is a family history of IBD.
95% of normal infants pass stool spontaneously by 24 hours of Having a first-degree relative with IBD increases the risk about
age; 95% of infants with Hirschsprung disease do not. Symptoms 30-fold. Susceptibility has been linked to some human leukocyte
of distal bowel obstruction occur with distention and bilious antigen (HLA) subtypes, and linkage analysis has identified
vomiting. If the diagnosis is not made quickly, enterocolitis multiple other susceptibility loci on several chromosomes.
can result, associated with a high rate of mortality. Diagnosis Environmental factors (not yet identified) also seem to play a
is based on examination and one or more diagnostic studies. role because there is often nonconcordance among monozygotic
Abdominal distention is present in most cases. Digital rectal twins. Dietary and infectious triggers have been proposed but
examination reveals an empty rectum that clenches around not yet proven. Smoking increases the risk as well as the severity
the examiner’s finger, giving the impression of an elongated of CD and decreases the risk for UC.
sphincter. When the finger is withdrawn, a powerful gush of Clinical manifestations depend on the region of involve-
retained stool is often expelled. A deep rectal biopsy specimen ment. UC involves only the colon, whereas CD can include the
obtained surgically or by using a suction biopsy instrument is entire gut from mouth to anus. Colitis from either condition
required for diagnosis. When no ganglion cells are shown in results in diarrhea; blood and mucus in the stool; urgency; and
the submucosal plexus, accompanied by nerve trunk hyper- tenesmus, a sensation of incomplete emptying after defecation.
plasia, the diagnosis is certain. Barium enema and anorectal When colitis is severe, the child often awakens from sleep to
manometry may be used before biopsy, but false-negative and pass stool. Toxic megacolon is a life-threatening complication
false-positive results can occur. Therapy is surgical. When the characterized by fever, abdominal distention and pain, massively
bowel is markedly distended or inflamed, an initial colostomy dilated colon, anemia, and low serum albumin owing to fecal
usually is performed above the aganglionic segment, followed protein losses. Symptoms of colitis always are present in UC and
weeks later by one of several definitive repair procedures. The usually suggest the diagnosis early in its course. Extraintestinal
transanal pull-through excises the aganglionic bowel and creates manifestations of UC occur in a few patients and may include
a primary colorectal anastomosis without laparotomy. This primary sclerosing cholangitis, arthritis, uveitis, and pyoderma
procedure can be considered in patients with uncomplicated gangrenosum (Table 129.1).
involvement limited to the rectosigmoid region. Symptoms can be subtle in CD. Small bowel involvement
Meckel diverticulum is a remnant of the fetal omphalo- in CD is associated with loss of appetite, crampy postprandial
mesenteric duct and is an outpouching of the distal ileum pain, poor growth, delayed puberty, fever, anemia, and lethargy.
present in 1-2% of the population. Although most diverticula Symptoms may be present for some time before the diagnosis
are asymptomatic throughout life, some cause massive, painless is made. Severe CD with fibrosis may cause partial or complete
GI bleeding. Ectopic gastric tissue within the diverticulum causes
ulceration of mucosa in the adjacent ileum. Meckel diverticulum
may be a lead point for intussusception or may enable twisting TABLE 129.1 Comparison of Crohn Disease and
(volvulus) of neighboring bowel around its vascular supply. Ulcerative Colitis
Diverticulitis mimics appendicitis. Diagnosis may be made in
most cases by technetium scan (Meckel scan), which labels the CROHN ULCERATIVE
FEATURE DISEASE COLITIS
acid-producing mucosa. Because not all diverticula are seen,
ultrasound, barium enteroclysis, or video capsule endoscopy Malaise, fever, weight loss Common Sometimes
may be useful. When the level of suspicion is high, surgical Rectal bleeding Sometimes Usual
or laparoscopic investigation is warranted. The treatment is Abdominal mass Common Rare
surgical excision.
Abdominal pain Common Common
Perianal disease Common Rare
INFLAMMATORY BOWEL DISEASE
Ileal involvement Common None (backwash
Epidemiology and Etiology ileitis)
Strictures Common Unusual
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Abdominal Pain Skip lesions Common Not present

Diarrhea Transmural involvement Usual Not present
Fever and Rash Crypt abscesses Variable Usual
Pubertal Delay
Intestinal granulomas Common Rarely present
Risk of cancer* Increased Greatly increased
The peak incidence of inflammatory bowel disease (IBD) in Erythema nodosum Common Less common
children is in the second decade of life. IBD includes Crohn
Mouth ulceration Common Rare
disease (CD), which can involve any part of the gut, and
ulcerative colitis (UC), which affects only the colon. The Osteopenia at onset Yes No
incidence of IBD is increasing, especially in industrialized Autoimmune hepatitis Rare Yes
countries, for reasons that are unclear. It is more common in
Sclerosing cholangitis Rare Yes
northern latitudes. IBD is uncommon in tropical and Third
World countries. It is more common in Jewish than in other *Colonic cancer, cholangiocarcinoma, lymphoma in Crohn disease.
 CHAPTER 129 Intestinal Tract 491

small bowel obstruction. Perineal abnormalities, including skin calprotectin or positive lactoferrin testing indicates intestinal
tags and fistulas, are another feature distinguishing CD from inflammation. These tests have a high negative predictive value
UC. Other extraintestinal manifestations of CD include arthritis, but are not specific to IBD.
erythema nodosum, and uveitis or iritis. In patients with suspected IBD, upper endoscopy and
colonoscopy are recommended. Colonoscopic findings in UC
include diffuse carpeting of the distal or entire colon with tiny
Laboratory and Imaging Studies ulcers and loss of haustral folds. Within the involved segment,
Blood tests should include complete blood count, albumin, no skip areas are present. In CD, ulcerations tend to be much
erythrocyte sedimentation rate, and C-reactive protein (Table larger and deeper with a linear, branching, or aphthous
129.2). Anemia and elevated platelet counts are typical. Testing appearance; skip areas are usually present. Upper endoscopy
for abnormal serum antibodies can be helpful in diagnosing cannot evaluate the jejunum and ileum, but is more sensitive
IBD and in discriminating between the colitis of CD and UC. than contrast studies in identifying proximal CD involvement.
Serological testing for IBD may be considered but is not recom- Other methods to detect small bowel involvement include video
mended for screening due to poor sensitivity. Elevated fecal capsule endoscopy; upper GI series with small bowel follow
through; computed tomography (CT) scanning, which can detect
small bowel disease as well as abscesses; and MR enterography,
which has the advantage of no radiation and good sensitivity
TABLE 129.2 Diagnostic Studies for Inflammatory Bowel for finding active bowel disease.
Disease
STUDIES INTERPRETATION Treatment
BLOOD TESTS Ulcerative Colitis
CBC with WBC Anemia, elevated platelets suggest IBD UC is treated with the aminosalicylate drugs, which deliver
differential
5-aminosalicylic acid (5-ASA) to the distal gut. Because it is
ESR Elevated in many, but not all, IBD patients rapidly absorbed, pure 5-ASA (mesalamine) must be specially
C-reactive protein Elevated in many, but not all, IBD patients packaged in coated capsules or pills or taken as a suppository
to be effective in the colon. Other aminosalicylates (sulfasalazine,
Albumin May be low in IBD due to fecal loss
olsalazine, and balsalazide) use 5-ASA covalently linked to a
ASCA Found in about 50% of CD patients and carrier molecule. Sulfasalazine is the least expensive, but side
few UC patients
effects resulting from its sulfapyridine component are common.
Atypical p-ANCA Found in most UC patients and few CD When aminosalicylates alone cannot control the disease, steroid
patients therapy may be required to induce remission. Whenever possible,
Anti-OmpC Found in some UC and CD patients, rare steroids should not be used for long-term therapy. An immu-
in non-IBD nosuppressive drug, such as 6-mercaptopurine or azathioprine,
Anti-C Bir1 Found in about 50% of CD patients is useful to spare excessive steroid use in difficult cases. More
STOOL STUDIES potent immunosuppressives, such as cyclosporine or anti–tumor
necrosis factor (TNF) agents such as infliximab, may be used
Fecal calprotectin Elevated in IBD and can differentiate from
and lactoferrin functional disorders
as rescue therapy when other treatments fail. Surgical colectomy
with ileoanal anastomosis is an option for unresponsive severe
IMAGING STUDIES disease or electively to end chronic symptoms and to reduce
Upper GI series with Evaluate for ileal and jejunal CD the risk of colon cancer, which is increased in patients with
SBFT UC.
CT scan Used to detect abscess, small bowel
involvement Crohn Disease
Magnetic resonance Used to detect bowel thickening, Inflammation in CD typically responds less well to amino-
enterography inflammation, and strictures as well as salicylates; oral or IV steroids are more important in inducing
abscesses and fistulas remission. To avoid the need for repetitive steroid therapy,
ENDOSCOPY immunosuppressive drugs, usually either azathioprine,
Upper endoscopy Evaluate for CD of esophagus, stomach, 6-mercaptopurine, or methotrexate, are often started soon after
and duodenum; obtain tissue for diagnosis. CD that is difficult to control may be treated with
histological diagnosis agents that block the action of TNFα such as infliximab or
Colonoscopy Show presence or absence of colitis and adalimumab. Other antibodies that inhibit white blood cell
terminal ileal CD; obtain tissue for (WBC) migration or action, such as vedolizumab, also show
histology promise. Exclusive enteral nutrition can be an effective therapy
Video capsule Emerging role in diagnosis of small bowel for CD. Patients take formula as their sole source of nutrition
endoscopy CD, more sensitive than upper GI series for months as a steroid-sparing therapy. Other diets such as
with SBFT the specific carbohydrate diet continue to be studied as a possible
Anti-OmpC, Antibody to outer membrane protein C; ASCA, anti–Saccharomyces therapy. As with UC, surgery is sometimes necessary, usually
cerevisiae antibody; atypical p-ANCA, atypical perinuclear staining by antineutrophil because of obstructive symptoms, abscess, or severe, unremitting
cytoplasmic antibody; CBC, complete blood count; CD, Crohn disease; CT, symptoms. Because surgery is not curative in CD, its use must
computed tomography; ESR, erythrocyte sedimentation rate; GI, gastrointestinal;
IBD, inflammatory bowel disease; SBFT, small bowel follow-through; UC, ulcerative be limited, and the length of bowel resection must be
colitis; WBC, white blood cell. minimized.
492 SECTION 17 DIGESTIVE SYSTEM
CELIAC DISEASE
Etiology and Epidemiology
Celiac disease is an injury to the mucosa of the small intestine
caused by the ingestion of gluten (a protein component) from
wheat, rye, barley, and related grains. In its severe form, celiac
disease causes malabsorption and malnutrition. The availability
of more sensitive and specific serological testing has revealed
many patients with few or no GI symptoms who have early,
attenuated, or latent disease. Incidence of celiac disease is
estimated at 1%, but only a small proportion has been diagnosed.
The disease is seen in association with type 1 diabetes, thyroiditis,
Turner syndrome, and trisomy 21.
Clinical Manifestations
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Diarrhea
Pubertal Delay
Failure to Thrive
Symptoms can begin at any age when gluten-containing foods
are given. Diarrhea, abdominal bloating, failure to thrive,
irritability, decreased appetite, and ascites caused by hypopro-
teinemia are classic. Children may be minimally symptomatic
or may be severely malnourished. Constipation is found in a
few patients, probably because of reduced intake. A careful
inspection of the child’s growth curve and evaluation for reduced
subcutaneous fat and abdominal distention are crucial. Celiac
disease should be considered in any child with chronic abdomi-
nal complaints, short stature, poor weight gain, or delayed
puberty. Extraintestinal manifestations include osteopenia,
arthritis or arthralgias, ataxia, dental enamel defects, elevated
liver enzymes, dermatitis herpetiformis, and erythema nodosum.
Laboratory and Imaging Studies
Serological markers include IgA antiendomysial antibody and
IgA tissue transglutaminase antibody. Because IgA deficiency
is common in celiac disease, total serum IgA also must be
measured to document the accuracy of these tests. In the absence
of IgA deficiency, either test yields a sensitivity and specificity
of 95%. An endoscopic small bowel biopsy is essential to
confirm the diagnosis and should be performed while the patient
is still ingesting gluten. The biopsy specimen shows various
degrees of villous atrophy (short or absent villi), mucosal
inflammation, crypt hyperplasia, and increased numbers of
intraepithelial lymphocytes. When there is any question about
response to treatment, a repeat biopsy specimen may be obtained
several months later. Other laboratory studies should be per-
formed to rule out complications, including complete blood
count, calcium, phosphate, vitamin D, iron, total protein and
albumin, and liver function tests. Mild elevations of the trans-
aminases are common and should normalize with dietary
therapy.
Treatment
Treatment consists of complete elimination of gluten from the
diet. Consultation with a dietitian experienced in celiac disease
is helpful, as is membership in a celiac disease support group.
Lists of prepared foods that contain hidden gluten are particu-
larly important for patients to use. Starchy foods that are safe
include rice, soy, tapioca, buckwheat, potatoes, and (pure) oats.
Many resources also are available via the Internet to help families
cope with the large changes in diet that are required. Most
patients respond clinically within a few weeks with weight gain,
improved appetite, and improved sense of well-being. Histologi-
cal improvement lags behind clinical response, requiring several
months to normalize.
MILK AND SOY PROTEIN INTOLERANCE
(ALLERGIC COLITIS)
See Chapter 34.
INTUSSUSCEPTION
Etiology and Epidemiology
Intussusception is the “telescoping” of a segment of proximal
bowel (the intussusceptum) into downstream bowel (the intus-
suscipiens). Most cases occur in infants 1-2 years old; in this
age group, nearly all cases are idiopathic. Viral-induced lymphoid
hyperplasia may produce a lead point in these children. In
older children, the proportion of cases caused by a pathological
lead point increases. In young children, ileocolonic intussuscep-
tion is common; the ileum invaginates into the colon, beginning
at or near the ileocecal valve. When pathological lead points
are present, the intussusception may be ileoileal, jejunoileal,
or jejunojejunal.
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Abdominal Pain
Gastrointestinal Bleeding
Irritable Infant
An infant with intussusception has sudden onset of crampy
abdominal pain; the infant’s knees draw up, and the infant cries
out and exhibits pallor with a colicky pattern occurring every
15-20 minutes. Feedings are refused. As the intussusception
progresses and obstruction becomes prolonged, bilious vomiting
becomes prominent and the dilated, fatigued intestine generates
less pressure and less pain. As the intussuscepted bowel is pulled
further and further into the downstream intestine by motility,
the mesentery is pulled with it and becomes stretched and
compressed. The venous outflow from the intussusceptum is
obstructed, leading to edema, weeping of fluid, and congestion
with bleeding. Third space fluid losses and “currant jelly” stools
result. Another unexpected feature of intussusception is lethargy.
Between episodes of pain, the infant is glassy-eyed and groggy
and appears to have been sedated. A sausage-shaped mass caused
by the swollen, intussuscepted bowel may be palpable in the
right upper quadrant or epigastrium.
Laboratory and Imaging Studies
The diagnosis depends on the direct demonstration of bowel-
within-bowel. A simple way of showing this is by abdominal

ultrasound. If the ultrasound is positive, or if good visualization
has not been achieved, a pneumatic or contrast enema under
fluoroscopy is indicated. This is a potentially useful way to both
identify and treat intussusception. Air and barium can show the
intussusception quickly and, when administered with controlled
pressure, usually can reduce it completely. The success rate for
pneumatic reduction is higher than for hydrostatic reduction
with barium and approaches 90%, if done when symptoms
have been present for less than 24 hours. The pneumatic enema
has the additional advantages over barium of not preventing
subsequent radiologic studies and having no risk of causing
barium peritonitis if perforation occurs. Nonoperative reduction
should not be attempted if the patient is unstable or has evidence
of pre-existing perforation or peritonitis.
Treatment
Therapy must begin with placement of an IV catheter and a
nasogastric tube. Before radiologic intervention is attempted,
the child must have adequate fluid resuscitation to correct the
often severe dehydration caused by vomiting and third space
losses. Ultrasound may be performed before the fluid resuscita-
tion is complete. Surgical consultation should be obtained early
as the surgeon may prefer to be present during nonoperative
reduction. If pneumatic or hydrostatic reduction is successful,
the child should be admitted to the hospital for overnight
observation of possible recurrence (risk is 5-10%). If reduction
is not complete, emergency surgery is required. The surgeon
attempts gentle manual reduction but may need to resect the
involved bowel after failed radiologic reduction because of
severe edema, perforation, a pathological lead point (polyp,
Meckel diverticulum), or necrosis.
APPENDICITIS
Etiology and Epidemiology
Appendicitis is the most common surgical emergency in child-
hood. The prevalence of appendicitis varies by age with the
peak in the second decade. Appendicitis begins with obstruction
of the lumen, most commonly by fecal matter (fecalith), but
appendiceal obstruction also can occur secondary to hyperplasia
of lymphoid tissue associated with viral infections or, rarely,
the presence of neoplastic tissue, such as an appendiceal car-
cinoid tumor. Trapped bacteria proliferate and begin to invade
the appendiceal wall, inducing inflammation and secretion.
The obstructed appendix becomes engorged, its blood supply
is compromised, and it finally ruptures. The entire process is
rapid, with appendiceal rupture usually occurring within 48
hours of the onset of symptoms.
Clinical Manifestations
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Abdominal Pain
Vomiting
Classic appendicitis begins with visceral pain, localized to the
periumbilical region. Nausea and vomiting occur soon after,
triggered by the appendiceal distention. As the inflammation
begins to irritate the parietal peritoneum adjacent to the
CHAPTER 129 Intestinal Tract 493
appendix, somatic pain fibers are activated, and the pain
localizes to the right lower quadrant. Examination of the patient
reveals a tender right lower quadrant. Voluntary guarding is
present initially, progressing to rigidity, then to rebound tender-
ness with rupture and peritonitis. These classic findings may
not be present, especially in young children or if the appendix
is retrocecal, covered by omentum, or in another unusual
location. Clinical prediction rules have been developed for the
diagnosis of appendicitis. The Alvarado/MANTRELS rule is
scored by 1 point for each of the following: migration of pain
to the right lower quadrant, anorexia, nausea/vomiting, rebound
pain, temperature of at least 37.3°C, and WBC shift to greater
than 75% neutrophils; 2 points are given for each of tenderness
in the right lower quadrant and leukocytosis greater than
10,000/μL. Children with a score of 4 or less are unlikely to
have appendicitis; a score of 7 or greater increases the likelihood
that the patient has appendicitis. When classic history and
physical examination findings are present, the patient is taken
to the operating room. When doubt exists, imaging is helpful
to rule out complications (right lower quadrant abscess, liver
disease) and other disorders, such as mesenteric adenitis and
ovarian or fallopian tube disorders. If the evaluation is negative
and some doubt remains, the child should be admitted to the
hospital for close observation and serial examinations.
Laboratory and Imaging Studies
The history and examination are often enough to make the
diagnosis, but laboratory and imaging studies are helpful when
the diagnosis is uncertain (Table 129.3). A WBC count greater
than 10,000/mm3 is found in 89% of patients with appendicitis
and 93% with perforated appendicitis. This criterion is met by
62% of abdominal pain patients without appendicitis. Urinalysis
is done to rule out urinary tract infection, and x-rays of the
chest or the kidney-ureter-bladder (KUB) rule out lower lobe
pneumonia masquerading as abdominal pain. Amylase, lipase,
and liver enzymes are done to look for pancreatic or liver and
gallbladder disease. The plain abdominal x-ray may reveal a
calcified fecalith, which strongly suggests the diagnosis. When
these studies are inconclusive, imaging is indicated with an
abdominal ultrasound or CT scan, which may reveal the presence
of an enlarged, thick-walled appendix with surrounding fluid.
A diameter of more than 6 mm is considered diagnostic.
TABLE 129.3 Diagnostic Studies in Suspected
Appendicitis
INITIAL LABORATORY TESTING
CBC with differential
Urinalysis
Amylase and lipase
ALT, AST, GGT
Flat and upright abdominal radiographs (KUB)
FOLLOW-UP STUDIES*
Abdominal ultrasound
CT scan of abdomen
*Perform when diagnosis remains in doubt.
ALT, Alanine aminotransferase; AST, aspartate aminotransferase; CBC, complete
blood count; CT, computed tomography; GGT, γ-glutamyltransferase; KUB,
kidney-ureter-bladder.
494 SECTION 17 DIGESTIVE SYSTEM
Treatment
Treatment of appendicitis is usually surgical. Laparoscopic
appendectomy is curative if performed before perforation. With
perforation, a course of postoperative IV antibiotics is required.
Broad-spectrum coverage is necessary to cover the mixed bowel
flora. In low-risk patients with nonperforated appendicitis, some
centers have a nonsurgical approach and use high dose broad-
spectrum intravenous antibiotics in a hospital setting.
CHAPTER 130
Liver Disease
CHOLESTASIS
Etiology and Epidemiology
Cholestasis is defined as reduced bile flow and is characterized
by elevation of the conjugated, or direct, bilirubin fraction.
This condition must be distinguished from physiological
neonatal jaundice, in which the direct bilirubin is never elevated
(see Chapter 62). Neonatal jaundice that is secondary to
unconjugated hyperbilirubinemia is the result of immature
hepatocellular excretory function or hemolysis, which increases
the production of bilirubin. When direct bilirubin is elevated,
many potentially serious disorders must be considered (Fig.
130.1, Table 130.1). Emphasis must be placed on the rapid
diagnosis of treatable and potentially imminently lethal disor-
ders, especially biliary atresia and metabolic disorders, such
as galactosemia or tyrosinemia.
Clinical Manifestations
Decision-Making Algorithm
Available @ StudentConsult.com
Jaundice
The jaundice of extrahepatic biliary atresia (biliary atresia)
usually is not evident immediately at birth, but develops in the
first week or two of life. The reason is that extrahepatic bile
ducts are usually present at birth but are then destroyed by an
idiopathic inflammatory process. Aside from jaundice, these
infants do not initially appear ill. The liver injury progresses
rapidly to cirrhosis; symptoms of portal hypertension with
splenomegaly, ascites, muscle wasting, and poor weight gain
are evident by a few months of age. If surgical drainage is not
performed successfully early in the course (ideally by 2 months),
progression to liver failure is inevitable.
Neonatal hepatitis is characterized by an ill-appearing
infant with an enlarged liver and jaundice. There is no specific
diagnostic test. If liver biopsy is performed, the presence of
hepatocyte giant cells is characteristic. Cytomegalovirus, herpes
simplex virus, and syphilis must be ruled out. Hepatobiliary
scintigraphy typically shows slow hepatic uptake with eventual
excretion of isotope into the intestine. These infants have a
good prognosis overall, with spontaneous resolution occurring
in most.
α1-Antitrypsin deficiency presents with clinical find-
ings indistinguishable from neonatal hepatitis. Only about
10-20% of all infants with the genetic defect exhibit neonatal
cholestasis. Of these affected infants, about 20-30% develop
chronic liver disease, which may result in cirrhosis and liver
failure. Life-threatening α1-antitrypsin deficiency occurs
in only 3-5% of affected pediatric patients. α1-Antitrypsin
deficiency is the leading metabolic disorder requiring liver
transplantation.
Alagille syndrome is characterized by chronic cholestasis
with the unique liver biopsy finding of paucity of bile ducts in
the portal triads. Associated abnormalities in some (syndromic)
types include peripheral pulmonic stenosis or other cardiac
anomalies; hypertelorism; unusual facies with deep-set eyes,
prominent forehead, and a pointed chin; butterfly vertebrae;
and a defect of the ocular limbus (posterior embryotoxon).
Cholestasis is variable but is usually lifelong and associated
with hypercholesterolemia and severe pruritus. Progression
to end-stage liver disease is uncommon. Liver transplanta-
tion sometimes is performed electively to relieve severe and
uncontrollable pruritus.
Laboratory and Imaging Studies
The laboratory approach to diagnosis of a neonate with cho-
lestatic jaundice is presented in Table 130.2. Noninvasive studies
may aid a rapid diagnosis. Early imaging studies are performed
to evaluate for biliary obstruction and other anatomical lesions
that may be surgically treatable. When necessary to rule out
biliary atresia or to obtain prognostic information, liver biopsy
is a final option (Fig. 130.2).
Treatment
Treatment of extrahepatic biliary atresia is the surgical Kasai
procedure, in which the fibrotic extrahepatic bile duct remnant
is removed and replaced with a roux-en-Y loop of jejunum.
This operation must be performed before 3 months of age
to have the best chance of success. Even so, the success rate
is low; many children require liver transplantation. Some
metabolic causes of neonatal cholestasis are treatable by dietary
manipulation (galactosemia) or medication (tyrosinemia); all
affected patients require supportive care. This includes fat-
soluble vitamin supplements (vitamins A, D, E, and K) and
formula containing medium-chain triglycerides, which can be
absorbed without bile salt–induced micelles. Choleretic agents,
such as ursodeoxycholic acid, may improve bile flow in some
conditions.
VIRAL HEPATITIS
See Chapter 113.
FULMINANT LIVER FAILURE
Etiology and Epidemiology
Fulminant liver failure is defined as severe liver disease
with onset of hepatic encephalopathy within 8 weeks after
initial symptoms, in the absence of chronic liver disease.
Etiology includes viral hepatitis, metabolic disorders,
autoimmune hepatitis, ischemia, neoplastic disease, and toxins
(Table 130.3).
 JAUNDICE

Unconjugated Hyperbilirubinemia Conjugated Hyperbilirubinemia

Hemolysis and Reticulocytosis No Hemolysis Obstructive Infectious Metabolic Toxic Idiopathic Autoimmune
Positive Coombs Negative Coombs Gilbert syndrome Alagille syndrome Hepatitis A, B, C, Progressive familial Total parenteral Idiopathic neonatal Autoimmune
test test Physiological Nonsyndromic D, E, G intrahepatic nutrition hepatitis chronic hepatitis
ABO and Rh RBC enzyme jaundice of the paucity of Cytomegalovirus cholestasis Acetaminophen Familial benign Sclerosing
incompatibility defect (G6PD newborn intrahepatic bile Herpes simplex Wilson disease Ethanol recurrent cholangitis
Autoimmune, deficiency) Breast milk ducts 1, 2, 6 α1-Antitrypsin Salicylates cholestasis Graft-versus-host
systemic lupus Hemoglobinopathy jaundice Biliary atresia Epstein-Barr virus deficiency Iron Cholestasis with disease
erythematosus (sickle cell Crigler-Najjar Choledochal cyst Coxsackievirus Galactosemia Halothane lymphedema
Drug-induced and anemia) syndrome Cholelithiasis ECHO virus Tyrosinemia (Aagenaes
Isoniazid
idiopathic RBC membrane Hypothyroidism Tumor/neoplasia Fructosemia syndrome)
Measles Valproic acid
acquired defect (hereditary Pyloric stenosis Bile duct stenosis Niemann-Pick Cholestasis with
Varicella Venoocclusive
hemolytic spherocytosis) Internal disease hypopituitarism
Spontaneous bile Syncytial giant cell disease
anemia Hemolytic-uremic hemorrhage Familial
duct perforation (paramyxovirus) Gaucher disease (cyclophosphamide)
syndrome erythrophagocytic
Bile-mucus plug Human parvovirus Zellweger syndrome Herbal teas
Wilson disease lymphohistiocytosis
Congenital hepatic B19 Wolman disease Volatile hydrocarbons Shock
fibrosis Toxoplasmosis Cystic fibrosis Bacillus cereus toxin
Syphilis Neonatal iron Phenytoin
Leptospirosis storage disease Estradiol
Bacterial sepsis/ Indian childhood Methyldopa
urinary tract cirrhosis
infection Defects in bile acid
(especially gram- synthesis
negative)
Cholecystitis
Curtis–Fitz-Hugh
syndrome
CHAPTER

FIGURE 130.1 Differential diagnosis of jaundice in childhood. G6PD, Glucose-6-phosphate dehydrogenase; RBC, red blood cell.
130 Liver Disease
495
496 SECTION 17 DIGESTIVE SYSTEM

TABLE 130.1 Differential Diagnosis of Conjugated Hyperbilirubinemia in Infants

OBSTRUCTIVE/ANATOMICAL DISORDERS Farber disease

Biliary atresia Niemann-Pick disease
Choledochal cyst Beta-oxidation defects
Caroli disease (cystic dilatation of intrahepatic ducts) Gaucher disease
Congenital hepatic fibrosis DISORDERS OF BILE ACID SYNTHESIS AND METABOLISM
Neonatal sclerosing cholangitis Primary Enzyme Deficiencies
Bile duct stenosis 3β-Hydroxy-Δ5-C27-steroid dehydrogenase/isomerase
Spontaneous bile duct perforation Δ4-3-Oxosteroid 5β-reductase
Anomalous choledocho-pancreatico-ductal junction Oxysterol 7α-hydroxylase
Cholelithiasis Secondary
Inspissated bile or mucous Zellweger syndrome (cerebrohepatorenal syndrome)
Mass or neoplasia Infantile Refsum disease
INFECTIONS Smith-Lemli-Opitz syndrome
Bacterial (gram negative) sepsis Other enzymopathies
Urinary tract infection Mitochondrial disorders (respiratory chain)
Listeriosis Intrahepatic Cholestasis
Syphilis Alagille syndrome (arteriohepatic dysplasia)
Toxoplasmosis Nonsyndromic paucity of intrahepatic bile ducts
Tuberculosis Progressive familial intrahepatic cholestasis (PFIC)
Cytomegalovirus Type 1: Byler disease
Herpesvirus (herpes simplex, herpes zoster, human herpesvirus 6) Type 2: Defect in the bile salt export pump
Rubella virus Type 3: Defect in canalicular phospholipid transporter
Hepatitis B virus Benign recurrent intrahepatic cholestasis
Human immunodeficiency virus (HIV) Greenland familial cholestasis (Nielsen syndrome)
Coxsackievirus North American Indian cirrhosis
Echovirus Hereditary cholestasis with lymphedema (Aagenaes syndrome)
Parvovirus B19 Toxin- or Drug-Related
Adenovirus Cholestasis associated with total parenteral nutrition
Measles Chloral hydrate
METABOLIC DISORDERS Home remedies/herbal medicines
α1-Antitrypsin deficiency Venoocclusive disease
Cystic fibrosis Miscellaneous
Citrin deficiency Idiopathic neonatal hepatitis
Neonatal hemochromatosis (neonatal iron storage disease) Autoimmune hemolytic anemia with giant cell hepatitis
ENDOCRINE DISORDERS Shock or hypoperfusion (including cardiac disease)
Panhypopituitarism Intestinal obstruction
Hypothyroidism Langerhans cell histiocytosis
DISORDERS OF CARBOHYDRATE METABOLISM Neonatal lupus erythematosus
Galactosemia Dubin-Johnson syndrome
Hereditary fructose intolerance (fructosemia) North American Indian childhood cirrhosis
Glycogen storage disease type IV Trisomies (18, 21)
DISORDERS OF AMINO ACID METABOLISM Congenital disorders of glycosylation
Tyrosinemia Kabuki syndrome
Hypermethioninemia Donahue syndrome (leprechaunism)
DISORDERS OF LIPID METABOLISM Arthrogryposis, cholestatic pigmentary disease, renal dysfunction
syndrome
Wolman disease
Familial hemophagocytic lymphohistiocytosis
Cholesterol ester storage disease
Modified from Balistreri WF. Liver disease in infancy and childhood. In: Schiff ER, Sorrell MF, Maddrey WC, eds. Schiff’s Diseases of the Liver. 8th ed. Philadelphia:
Lippincott-Raven; 1999:1370; Suchy FJ. Approach to the infant with cholestasis. In: Suchy FJ, Sokol RJ, Balistreri WF, eds. Liver Disease in Children. 2nd ed. Philadelphia:
Lippincott Williams & Wilkins; 2001:188.
 CHAPTER 130 Liver Disease 497

TABLE 130.2 Laboratory and Imaging Evaluation of

hypoalbuminemia and disordered regulation of fluid and
Neonatal Cholestasis electrolyte homeostasis. Increased risk of infection occurs and
may cause death. Esophageal varices may cause significant
EVALUATION RATIONALE hemorrhage, whereas hypersplenism from portal hypertension
INITIAL TESTS may produce thrombocytopenia.
Total and direct bilirubin Elevated direct fraction
confirms cholestasis
Laboratory and Imaging Studies
AST, ALT Hepatocellular injury
Coagulation tests and serum albumin are used to follow hepatic
GGT Biliary obstruction/injury synthetic function. These tests are confounded by administration
RBC galactose-1-phosphate Galactosemia of blood products and clotting factors. Vitamin K should be
uridyltransferase administered to maximize the liver’s ability to synthesize factors
α1-Antitrypsin level α1-Antitrypsin deficiency II, VII, IX, and X. In addition to monitoring prothrombin time
and partial thromboplastin time, many centers measure factor
Urinalysis and urine culture Urinary tract infection can cause
cholestasis in neonates V serially as a sensitive index of synthetic function. Renal
function tests, electrolytes, serum ammonia, blood counts, and
Blood culture Sepsis can cause cholestasis
urinalysis also should be followed. In the setting of acute liver
Serum amino acids Aminoacidopathies failure, liver biopsy may be indicated to ascertain the nature
Urine organic acids Organic acidurias and degree of injury and estimate the likelihood of recovery.
Very-long-chain fatty acids Zellweger syndrome,
In the presence of coagulopathy, biopsy must be done using a
peroxisomal disorders transjugular or surgical approach.
Carnitine profile Mitochondrial and fatty acid
oxidation disorders
Treatment
Sweat chloride or CF mutation Cystic fibrosis
analysis
Because of the life-threatening and complex nature of this
condition, management must be carried out in an intensive
Urine culture for Congenital cytomegalovirus care unit at a liver transplant center. Treatment of acute liver
cytomegalovirus infection
failure is supportive; the definitive lifesaving therapy is liver
INITIAL IMAGING STUDY transplantation. Supportive measures are listed in Table 130.5.
Abdominal ultrasound Choledochal cyst, gallstones, Efforts are made to treat metabolic derangements, avoid
mass lesion, Caroli disease hypoglycemia, support respiration, minimize hepatic encepha-
SECONDARY IMAGING STUDY lopathy, and support renal function.
Hepatobiliary scintigraphy Evaluate for biliary atresia
Pathology CHRONIC LIVER DISEASE
Percutaneous liver biopsy Biliary atresia, idiopathic giant Etiology and Epidemiology
cell hepatitis, α1-antitrypsin Chronic liver disease in childhood is characterized by the
deficiency development of cirrhosis and its complications, and by progres-
ALT, Alanine aminotransferase; AST, aspartate aminotransferase; CF, cystic fibrosis; sive hepatic failure. Causative conditions may be congenital or
GGT, γ-glutamyltransferase; RBC, red blood cell. acquired. Major congenital disorders leading to chronic disease
include biliary atresia, tyrosinemia, untreated galactosemia,
and α1-antitrypsin deficiency. In older children, hepatitis B or
C virus, autoimmune hepatitis, Wilson disease, primary scleros-
Clinical Manifestations ing cholangitis, cystic fibrosis, and biliary obstruction secondary
to choledochal cyst are leading causes.
Decision-Making Algorithm
Available @ StudentConsult.com
Clinical Manifestations
Hepatomegaly
Decision-Making Algorithms
Available @ StudentConsult.com
Liver failure is a multisystem disorder with complex interactions Gastrointestinal Bleeding
among the liver, kidneys, vascular structures, gut, central nervous Jaundice
system (CNS), and immune function. Hepatic encephalopathy Abdominal Masses
is characterized by varying degrees of impairment (Table 130.4). Bleeding
Respiratory compromise occurs as severity of the failure
increases and requires early institution of ventilatory support.
Hypoglycemia resulting from impaired glycogenolysis and
gluconeogenesis must be prevented. Renal function is impaired, Chronic liver disease is characterized by the consequences of
and frank renal failure, or hepatorenal syndrome, may occur. portal hypertension, impaired hepatocellular function, and
This syndrome is characterized by low urine output, azotemia, cholestasis. Portal hypertension caused by cirrhosis results in
and low urine sodium content. Ascites develops secondary to risk of gastrointestinal bleeding, ascites, and reduced hepatic
498 SECTION 17 DIGESTIVE SYSTEM
Laboratory studies
No diagnosis
Abdominal ultrasound
No biliary
Biliary cyst lesions seen
or obstruction
Hepatobiliary scan
No excretion Excretion into bowel
Liver biopsy
Evidence of
biliary atresia
Surgery
FIGURE 130.2 Flow chart for evaluation of neonatal cholestasis.
blood flow. Blood entering the portal vein from the splenic
and mesenteric veins is diverted to collateral circulation that
bypasses the liver, enlarging these previously tiny vessels in the
esophagus, stomach, and abdomen. Esophageal varices are
particularly prone to bleed, but bleeding also can occur from
hemorrhoidal veins, engorged gastric mucosa, and gastric
varices. Ascites develops as a result of weeping of a high-pressure
ultrafiltrate from the surfaces of the viscera and is at risk of
becoming infected (spontaneous bacterial peritonitis); ascites
can often be massive and interfere with patient comfort and
respiration. The spleen enlarges secondary to impaired splenic
vein outflow, causing excessive scavenging of platelets and white
blood cells; this increases the patient’s susceptibility to bleeding
and infection.
Impaired hepatocellular function is associated with coagulopa-
thy unresponsive to vitamin K, low serum albumin, elevated
ammonia, and hepatic encephalopathy. The diversion of portal
blood away from the liver via collateral circulation worsens this
process. Malaise develops and contributes to poor nutrition,
leading to muscle wasting and other consequences.
Chronic cholestasis causes debilitating pruritus and deepening
jaundice. The reduced excretion of bile acids impairs absorption
of fat calories and fat-soluble vitamins, which contributes to
the poor nutritional state. Deficiency of vitamin K impairs
production of clotting factors II, VII, IX, and X and increases
the risk of bleeding. Vitamin E deficiency leads to hematological
and neurological consequences unless corrected.
Specific diagnosis
Specific therapy
(if available), or
Supportive care
No evidence of
biliary atresia
Laboratory and Imaging Studies
Laboratory studies include specific tests for diagnosis of the
underlying illness and testing to monitor the status of the patient.
Children presenting for the first time with evidence of chronic
liver disease should have a standard investigation (Table 130.6).
Monitoring should include coagulation tests, electrolytes and
renal function testing, complete blood count with platelet count,
transaminases, alkaline phosphatase, and γ-glutamyltransferase
at appropriate intervals. Frequency of testing should be tailored
to the pace of the patient’s illness. Ascites fluid can be tested
for infection by culture and cell count and generally is found
to have an albumin concentration lower than that of serum.
Treatment
Treatment of chronic liver disease is complex. Supportive care
for each of the many problems encountered in these patients
is outlined in Table 130.7. Ultimately, survival depends on the
availability of a donor liver and the patient’s candidacy for
transplantation. When transplantation is not possible or is
delayed, palliative procedures, such as portosystemic shunts,
can be considered. The transjugular intrahepatic portosystemic
shunt is an expandable stent placed between the hepatic vein
and a branch of the portal vein within the hepatic parenchyma.
This procedure is performed using catheters inserted via the
jugular vein and is entirely nonsurgical. All portosystemic shunts
carry increased risk of hepatic encephalopathy.
 CHAPTER 130 Liver Disease 499

TABLE 130.3 Causes of Fulminant Liver Failure in TABLE 130.4 Stages of Hepatic Encephalopathy
Childhood
STAGE I
METABOLIC Alert and awake
Neonatal hemochromatosis
Agitated and distractible
Electron chain transport and other mitochondrial defects
Infants and young children—irritable and fussy
Disorders of fatty acid oxidation
Normal reflexes
Galactosemia
Tremor, poor handwriting
Tyrosinemia
Obeys age-appropriate commands
Hereditary fructose intolerance
STAGE II
Bile acid synthesis disorders
Confused and lethargic
Wilson disease
Combative or inappropriate euphoria
CARDIOVASCULAR Hyperactive reflexes
Shock, hypotension
Asterixis present
Congestive heart failure
Purposeful movements, but may not obey commands
Budd-Chiari syndrome
STAGE III
INFECTIOUS Stuporous but arousable
Hepatitis virus A, B
Sleepy
Echovirus
Incoherent speech
Coxsackievirus
Motor response to pain
Adenovirus
Hyperreflexic
Parvovirus
Hyperventilation
Cytomegalovirus
Asterixis present
Sepsis
STAGE IV
Herpes simplex
Unconscious, not arousable
NEOPLASTIC Unresponsive or responds nonpurposefully to pain
Acute leukemia
Reflexes hyperactive
Lymphoproliferative disease
Irregular respirations
TOXIC Pupil response sluggish
Acetaminophen
STAGE V
Valproic acid
Unconscious
Phenytoin
Hypoactive reflexes
Isoniazid
Flaccid muscle tone
Halothane
Apneic
Amanita mushrooms
Pupils fixed
IMMUNOLOGICAL
Autoimmune hepatitis
Familial hemophagocytic lymphohistiocytosis
Wilson disease is characterized by abnormal storage of copper in
the liver, leading to hepatocellular injury, CNS dysfunction, and
hemolytic anemia. It is an autosomal recessive trait caused by
mutations in the ATP7B gene. The encoded protein of this gene
functions as an ATP-driven copper pump. The diagnosis is made
SELECTED CHRONIC HEPATIC DISORDERS by identifying depressed serum levels of ceruloplasmin, elevated
Wilson Disease 24-hour urine copper excretion, the presence of Kayser-Fleischer
rings in the iris, evidence of hemolysis, and elevated hepatic
Decision-Making Algorithms copper content. In any single patient, one or more of these
Available @ StudentConsult.com measures may be normal. Clinical presentation also varies, but
Jaundice seldom occurs before age 3 years. Neurological abnormalities
Hepatomegaly may predominate, including tremor, decline in school perfor-
Involuntary Movements mance, worsening handwriting, and psychiatric disturbances.
Hypocalcemia Anemia may be the first noted symptom. Hepatic presentations
include appearance of jaundice, spider hemangiomas, portal
500 SECTION 17 DIGESTIVE SYSTEM

TABLE 130.5 Treatment of Fulminant Liver Failure

hypertension and its consequences, and fulminant hepatic failure.
Treatment consists of administration of copper-chelating drugs
Hepatic Avoid sedatives (penicillamine or trientine), with monitoring of urine copper
encephalopathy Lactulose via nasogastric tube—start with excretion at intervals. Zinc salts often replace chelating agents
1-2 mL/kg/day, adjust dose to yield several after chelation therapy has successfully reduced excessive body
loose stools per day copper stores. Adequate therapy must be continued for life to
Rifaximin or neomycin prevent liver and CNS deterioration.
Enemas if constipated
Mechanical ventilation if stage III or IV
Autoimmune Hepatitis
Coagulopathy Fresh frozen plasma only if active bleeding,
monitor coagulation studies frequently Immune-mediated liver injury may be primary or occur
Platelet transfusions as required in association with other autoimmune disorders, such as
inflammatory bowel disease or systemic lupus erythematosus.
Hypoglycemia Intravenous glucose supplied with ≥10%
dextrose solution, electrolytes as appropriate Diagnosis is made on the basis of elevated serum total IgG
and the presence of an autoantibody, most commonly anti-
Ascites Restrict fluid intake to 50-60% maintenance
nuclear, anti–smooth muscle, or anti–liver-kidney microsomal
Restrict sodium intake to 0.5-1 mEq/kg/day antibody. Liver biopsy specimen shows the presence of a plasma
Monitor central venous pressure to maintain cell–rich portal infiltrate with piecemeal necrosis. Treatment
adequate intravascular volume (avoid renal
failure)
consists of corticosteroids initially, usually with the addition
of an immunosuppressive drug after remission is achieved.
Renal failure Maintain adequate intravascular volume, give Steroids are tapered gradually as tolerated to minimize
albumin if low
glucocorticoid side effects. Many patients require lifelong
Diuretics
immunosuppressive therapy, but some may be able to stop
Vasoconstrictors medications after several years under careful monitoring for
Dialysis or hemofiltration recurrence.
Exchange transfusion
Liver transplantation

TABLE 130.6 Laboratory and Imaging Investigation of Chronic Liver Disease

METABOLIC TESTING AST, ALT, GGT, alkaline phosphatase

Serum α1-antitrypsin level Total and direct bilirubin
α1-Antitrypsin phenotype if low serum level Serum cholylglycine or bile acids
Serum ceruloplasmin Serum cholesterol
Sweat chloride, CF gene tests if CF suspected Ultrasound examination of liver and bile ducts
Testing for other specific conditions as indicated by clinical/ Doppler ultrasound of hepatic vessels*
laboratory findings
Magnetic resonance cholangiography*
VIRAL HEPATITIS
Magnetic resonance angiography of hepatic vessels*
HBsAg
Percutaneous or endoscopic cholangiography*
Hepatitis B viral DNA, HBeAg if HBsAg positive
Liver biopsy*
Hepatitis C antibody
ANATOMICAL EVALUATION
Hepatitis C antibody confirmatory test if positive
Ultrasound of liver, pancreas, and biliary tree
Hepatitis C viral RNA, genotype if antibody confirmed
Consider magnetic resonance cholangiography or ERCP if
AUTOIMMUNE HEPATITIS evidence of biliary process
Antinuclear antibody Liver biopsy—as required for diagnosis or prognosis
Liver-kidney microsomal antibody TESTS TO EVALUATE NUTRITIONAL STATUS
Anti–smooth muscle antibody Height, weight, skinfold thickness
Antineutrophil cytoplasmic antibody 25-Hydroxyvitamin D level
Total serum IgG (usually elevated) Vitamin A level
TESTS TO EVALUATE LIVER FUNCTION AND INJURY Vitamin E level
Prothrombin time and partial thromboplastin time Prothrombin time and partial thromboplastin time before and
after vitamin K administration
Serum ammonia
Serum albumin and prealbumin
CBC with platelet count
Serum albumin
*Perform when indicated to obtain specific anatomical information.
ALT, Alanine aminotransferase; AST, aspartate aminotransferase; CBC, complete blood count; CF, cystic fibrosis; ERCP, endoscopic retrograde cholangiopancreatography;
GGT, γ-glutamyltransferase; HBeAg, hepatitis B early antigen; HBsAg, hepatitis B surface antigen; Ig, immunoglobulin.
 CHAPTER 131 Pancreatic Disease 501

TABLE 130.7 Management of Chronic Liver Disease

PROBLEM CLINICAL MANIFESTATIONS DIAGNOSTIC TESTING TREATMENT

Gastrointestinal Hematemesis, rectal bleeding,
variceal bleeding* melena, anemia
Ascites Abdominal distention, shifting
dullness and fluid wave,
respiratory compromise,
spontaneous bacterial peritonitis
Nutritional Muscle wasting, fat-soluble
compromise vitamin deficiencies, poor or
absent weight gain, fatigue
Hepatic Irritability, confusion, lethargy,
encephalopathy somnolence, coma
*May also have peptic ulcerations.
CBC, Complete blood count; TIPSS, transjugular intrahepatic portosystemic shunt; WBC, white blood cell.
CBC, coagulation tests, Doppler
ultrasound, magnetic resonance
angiography, endoscopy
Abdominal ultrasound, diagnostic
paracentesis; measure ascites fluid
albumin (and serum albumin), cell
count, WBC differential, culture fluid in
blood culture bottles
Coagulation studies, serum albumin,
25-hydroxyvitamin D level, vitamin E
level, vitamin A level
Serum ammonia
Somatostatin (octreotide) infusion,
variceal band ligation or sclerotherapy,
propranolol to reduce portal pressure,
acid-blocker therapy, TIPSS or surgical
portosystemic shunt if transplant not
possible
Restrict sodium intake to 0.5-1 mEq/kg/
day, restrict fluids, monitor renal
function, treat peritonitis and portal
hypertension
Central portosystemic shunt may be
required
Fat-soluble vitamin supplements:
vitamins A, D, E, and K; use water-
soluble form of vitamins. Supplemental
feedings—nasogastric or parenteral if
necessary
Lactulose orally or via nasogastric tube,
avoid narcotics and sedatives, liver
transplantation

Nonalcoholic Fatty Liver Disease Clinical Manifestations

Nonalcoholic fatty liver disease is characterized by the presence
of macrovesicular fatty change in hepatocytes on biopsy. Varying
degrees of inflammation and portal fibrosis may be present.
This disorder occurs in obese children, sometimes in association
with insulin-resistant (type 2) diabetes and hyperlipidemia.
Children with marked obesity, with or without type 2 diabetes,
who have elevated liver enzymes and no other identifiable liver
disease are likely to have this condition. Nonalcoholic fatty
liver disease can progress to significant fibrosis. Treatment is
with weight loss and exercise. Vitamin E may have some benefit.
Efforts should be made to control blood glucose and hyper-
lipidemia and promote weight loss. In general, the rate of
progression to end-stage liver disease is slow.
CHAPTER131
Pancreatic Disease
PANCREATIC INSUFFICIENCY
Etiology and Epidemiology
The cause of inadequate pancreatic digestive function in 95%
of cases is cystic fibrosis (see Chapter 137). The defect in
CFTR chloride channel function results in thick secretions
in the lungs, intestines, pancreas, and bile ducts. In the
pancreas, there is destruction of pancreatic function, often
before birth. Some mutations result in less severe defects in
CFTR function and later onset of lung disease and pancreatic
insufficiency. Less common causes of pancreatic insufficiency
are Shwachman-Diamond syndrome and Pearson syndrome
in developed countries and severe malnutrition in developing
countries.
Decision-Making Algorithm
Available @ StudentConsult.com
Failure to Thrive
Children with pancreatic exocrine insufficiency have many
bulky, foul-smelling stools each day, usually with visible oil or
fat. They typically have voracious appetites because of massive
malabsorption of calories from fat, complex carbohydrates,
and proteins. Failure to thrive is uniformly present if diagnosis
and treatment are not accomplished rapidly. It is important to
distinguish children with malabsorption due to pancreatic
disease from children with intestinal disorders that interfere
with digestion or absorption. Appropriate testing should be
performed to rule out conditions such as celiac disease and
inflammatory bowel disease if any doubt about the state of
pancreatic sufficiency exists.
Laboratory and Imaging Studies
Testing of pancreatic function is difficult. Direct measurement
of enzyme concentrations in aspirated pancreatic juice is not
routine and is technically difficult. Stools can be tested for the
presence of maldigested fat, which usually indicates poor fat
digestion. Measuring fecal fat can give either a qualitative
assessment of fat absorption (fecal Sudan stain) or a semiquan-
titative measurement (72-hour fecal fat determination) of fat
maldigestion. Another way to assess pancreatic function is to
test for the presence of pancreatic enzymes in the stool. Of
these, measuring fecal elastase-1 by immunoassay seems to
be the most accurate method of assessment. Depressed fecal
elastase-1 concentration correlates well with the presence of
pancreatic insufficiency.
502 SECTION 17 DIGESTIVE SYSTEM

Treatment TABLE 131.1 Causes of Acute Pancreatitis in Children

Replacement of missing pancreatic enzymes is the best available OBSTRUCTIVE

therapy. Pancreatic enzymes are available as capsules containing Cholelithiasis and biliary sludge
enteric-coated microspheres. The coating on these spheres is
Choledochal cyst
designed to protect the enzymes from gastric acid degradation.
For children unable to swallow capsules, the contents may be Pancreas divisum
sprinkled on a spoonful of soft food, such as applesauce. Exces- Anomalous junction of biliary and pancreatic ducts
sive use of enzymes must be avoided because high doses (usually Annular pancreas
>6,000 U/kg/meal) can cause colonic fibrosis. In infants, typical
dosing is 2,000-4,000 U of lipase/120 mL of formula. In children Ampullary obstruction (mass, inflammation from Crohn disease)
younger than 4 years old, 1,000 U/kg/meal is given. For older Ascaris infection
children, 500 U/kg/meal is usual. This dose may be adjusted MEDICATIONS AND TOXINS
upward as required to control steatorrhea, but a dose of 2,500 U/
L-Asparaginase
kg/meal should not be exceeded. Use of H2-receptor antagonists
or proton pump inhibitors can increase the efficacy of pancreatic Valproic acid
enzymes by enhancing their release from the microspheres and Azathioprine and 6-mercaptopurine
reducing inactivation by acid. Didanosine
Pentamidine
ACUTE PANCREATITIS Tetracycline
Etiology and Epidemiology Opiates
The exocrine pancreas produces numerous proteolytic enzymes, Mesalamine
including trypsin, chymotrypsin, and carboxypeptidase. These
are produced as inactive proenzymes to protect the pancreas Sulfasalazine
from autodigestion. Trypsin is activated after leaving the Alcohol
pancreas by enterokinase, an intestinal brush border enzyme. Cannabis
After activation, trypsin cleaves other proteolytic proenzymes
SYSTEMIC DISEASES
into their active states. Protease inhibitors found in pancreatic
juice inhibit early activation of trypsin; the presence of self- Inflammatory bowel disease
digestion sites on the trypsin molecule allows for feedback Hemolytic uremic syndrome
inactivation. Pancreatitis occurs when digestive enzymes are Diabetic ketoacidosis
activated inside the pancreas, causing injury. Triggers for acute
pancreatitis differ between adults and children. In the adult Collagen vascular disease
patient, most episodes are related to alcohol abuse or gallstones. Kawasaki disease
In children, most cases are idiopathic or due to medications. Shock
Some cases are caused by pancreatic sufficient cystic fibrosis,
Sickle cell disease
hypertriglyceridemia, biliary microlithiasis, trauma, or viral
infection. Collagen vascular disorders and parasite infestations INFECTIOUS
are responsible for the remainder (Table 131.1). Sepsis
Mumps
Clinical Manifestations Coxsackievirus
Cytomegalovirus
Decision-Making Algorithms Varicella-zoster
Available @ StudentConsult.com
Herpes simplex
Abdominal Pain
Mycoplasma
Vomiting
Hyponatremia Ascaris
Hypocalcemia GENETIC
Cystic fibrosis—CFTR mutations
Acute pancreatitis presents with relatively rapid onset of pain, Hereditary pancreatitis—SPINK, PRSS1, and CTRC mutations
usually in the epigastric region. The pain may radiate to the OTHER
back and is nearly always aggravated by eating. The patient Trauma
moves frequently to find a position of comfort. Nausea and
vomiting occur in most cases. Pain is typically continuous and Hyperlipidemia
quite severe, usually requiring narcotics. Severe pancreatitis Hypercalcemia
can lead to hemorrhage, visible as ecchymoses in the flanks Autoimmune
(Grey Turner sign) or periumbilical region (Cullen sign). Rupture
of a minor pancreatic duct can lead to development of a
pancreatic pseudocyst, characterized by persistent severe pain

and tenderness and a palpable mass. With necrosis and fluid
collections, patients experiencing severe pancreatitis are prone
to infectious complications, and the clinician must be alert for
fever and signs of sepsis.
Laboratory and Imaging Studies
The diagnosis of acute pancreatitis is based on 2 of the fol-
lowing 3 criteria: abdominal pain consistent with the disease
(severe epigastric pain typically), serum amylase and/or
lipase greater than 3 time the upper limit of normal, and/
or characteristic findings on imaging. Acute pancreatitis can
be difficult to diagnose. Pancreatic enzymes are released into
the blood during pancreatic injury. Nonspecific elevations of
the enzymes are common. As acute pancreatitis progresses, the
amylase level tends to decline faster than lipase, making the
latter a good choice for diagnostic testing late in the course of
the disease.
Because enzyme levels are not 100% sensitive or specific,
imaging studies are important for the diagnosis of pancreatitis.
In acute pancreatitis, edema is present in all but the mildest
cases. Ultrasound is capable of detecting this edema and should
be performed as part of the overall diagnostic approach. If
overlying bowel gas obscures the pancreas, a computed
tomography (CT) scan allows complete visualization of the
gland. CT scans should be done with oral and intravenous
(IV) contrast agents to facilitate interpretation. Ultrasound
and CT also can be used to monitor for the development
of pseudocysts and for evidence of ductal dilation second-
ary to obstruction. The other important reason to perform
imaging studies early in the course of pancreatitis is to rule
out gallstones; the liver, gallbladder, and common bile duct all
should be visualized. Magnetic resonance cholangiopancrea-
tography may be used to detect anatomical variants causing
pancreatitis.
Treatment
There are no proven specific therapies for acute pancreatitis.
If a predisposing etiology is found, such as a drug reaction or
a gallstone obstructing the sphincter of Oddi, this should be
specifically treated. Fluid resuscitation is necessary because of
vomiting and third space losses. Pain relief should be provided.
Oral, nasogastric, or nasojejunal feedings can begin early if
tolerated and may improve outcome. If this is not possible,
parenteral nutrition is an option. Fewer complications and more
rapid recovery occur with enteral feedings compared with
parenteral nutrition. Antibiotics should be considered if the
patient is febrile, has extensive pancreatic necrosis, or has
laboratory evidence of infection. A broad-spectrum antibiotic,
such as imipenem, is considered the best choice.
CHRONIC PANCREATITIS
Etiology and Epidemiology
Chronic pancreatitis is defined as recurrent or persistent
attacks of pancreatitis, which have resulted in irreversible
morphological changes in pancreatic structure. These include
scarring of the ducts with irregular areas of narrowing and
dilation (beading), fibrosis of parenchyma, and loss of acinar
and islet tissue. Pancreatic exocrine insufficiency and diabetes
mellitus may result from unremitting chronic pancreatitis. Most
CHAPTER 131 Pancreatic Disease 503
patients have discrete attacks of acute symptoms occurring
repeatedly, but chronic pain may be present. The causes of
chronic pancreatitis include hereditary pancreatitis and milder
phenotypes of cystic fibrosis associated with pancreatic suf-
ficiency. Familial disease is caused by one of several known
mutations in the trypsinogen gene. These mutations obliter-
ate autodigestion sites on the trypsin molecule, inhibiting
feedback inhibition of trypsin digestion. Genetic testing is
readily available for these mutations. Genetic testing for cystic
fibrosis can be performed, but must include screening for the
less common mutations associated with pancreatic sufficiency.
Sweat chloride testing is less expensive and is abnormal in
most. Less commonly, mutations in the SPINK1 gene, which
codes for pancreatic trypsin inhibitor, and PRSS1, a mutation of
cationic trypsinogen, or CTRC, a mutation in chymotrypsin C
are found.
Clinical Manifestations
Children with chronic pancreatitis initially present with recur-
ring attacks of acute pancreatitis. Injury to the pancreatic ducts
predisposes these children to continued attacks owing to scarring
of small and large pancreatic ducts, stasis of pancreatic secre-
tions, stone formation, and inflammation. Loss of pancreatic
exocrine and endocrine tissue over time can lead to exocrine
and endocrine deficiency. More than 90% of the pancreatic
mass must be destroyed before exocrine deficiency becomes
clinically apparent; this is a late complication that does not
occur in all cases. Chronic pain is a serious problem in most
affected individuals. These patients have many episodes; many
do not require hospitalization.
Laboratory and Imaging Studies
Laboratory diagnosis of chronic pancreatitis is similar to acute
pancreatitis, but with more severe loss of pancreatic tissue, it
becomes less likely that the patient presents with elevation of
amylase or lipase. Monitoring also should include looking for
consequences of chronic injury, including diabetes mellitus
and compromise of the pancreatic and biliary ducts. Pancreatic
and biliary imaging has been accomplished by endoscopic
retrograde cholangiopancreatography (ERCP). ERCP offers
the possibility of therapeutic intervention to remove gall-
stones, dilate strictures, and place stents to enhance flow of
pancreatic juice. Magnetic resonance cholangiopancreatography
is an alternative to ERCP. Plain abdominal x-rays may show
pancreatic calcifications. Diagnostic testing for the etiology
of chronic pancreatitis should include genetic testing for
hereditary pancreatitis and cystic fibrosis and sweat chloride
determination.
Treatment
Treatment is largely supportive. Potential but unproven therapies
include the use of daily pancreatic enzyme supplements,
octreotide (somatostatin) to abort early attacks, low-fat diets,
and daily antioxidant therapy. Care must be taken that extreme
diets do not result in nutritional deprivation. Interventional
ERCP to dilate large strictures and remove stones and surgical
pancreatic drainage procedures to decompress dilated pancreatic
ducts by creating a side-to-side pancreaticojejunostomy may
have some value.
504 SECTION 17 DIGESTIVE SYSTEM
CHAPTER 132
Peritonitis
ETIOLOGY AND EPIDEMIOLOGY
The peritoneum consists of a single layer of mesothelial cells
that covers all intraabdominal organs. The portion that covers
the abdominal wall is derived from the underlying somatic
structures and is innervated by somatic nerves. The portion
covering the viscera is derived from visceral mesoderm and is
innervated by nonmyelinated visceral afferents. Inflammation
of the peritoneum, or peritonitis, usually is caused by infection
but may result from exogenous irritants introduced by penetrat-
ing injuries or surgical procedures, radiation, and endogenous
irritants such as meconium. Infectious peritonitis can be an
acute complication of intestinal inflammation and perforation,
as in appendicitis, or it can occur secondary to contamination
of pre-existing ascites associated with renal, cardiac, or hepatic
disease. In this setting, when there is no other intraabdominal
source, it is referred to as spontaneous bacterial peritonitis.
Spontaneous bacterial peritonitis is usually due to pneumococcus
and less often to Escherichia coli.
CLINICAL MANIFESTATIONS
Decision-Making Algorithm
Available @ StudentConsult.com
Abdominal Pain
Peritonitis is characterized on examination by marked abdominal
tenderness. Rebound tenderness also generally is quite pro-
nounced. The patient tends to move very little owing to intense
peritoneal irritation and pain. Fever is not always present, and
absence of fever should not be regarded as contradictory to
the diagnosis. Patients who are taking corticosteroids for an
underlying condition, such as nephrotic syndrome, are likely
to have little fever and reduced tenderness.
LABORATORY AND IMAGING STUDIES
Blood tests should focus on identifying the nature of the
inflammation and its underlying cause. An elevated white blood
cell count, erythrocyte sedimentation rate, and C-reactive protein
suggest infection. In children older than 5 years, appendicitis
is the leading cause. Total serum protein, albumin, and urinalysis
should be ordered to rule out nephrotic syndrome. Liver function
tests should be performed to rule out chronic liver disease
causing ascites. The best way to diagnose suspected peritonitis
is to sample the peritoneal fluid with a needle or catheter
(paracentesis). Peritoneal fluid in spontaneous bacterial peri-
tonitis has a high neutrophil count of greater than 250 cells/
mm3. Other tests that should be run on the peritoneal fluid
include amylase (to rule out pancreatic ascites), culture, albumin,
and lactate dehydrogenase concentration. For culture, a large
sample of fluid should be placed into aerobic and anaerobic
blood culture bottles immediately on obtaining the sample.
Appendicitis may be identified by ultrasound or computed
tomography (CT) scan. When other intraabdominal emergen-
cies are suspected, such as midgut volvulus, meconium ileus,
peptic disease, or any other condition predisposing to intestinal
perforation, specific testing should be performed.
TREATMENT
Peritonitis caused by an intraabdominal surgical process, such
as appendicitis or a penetrating wound, must be managed
surgically. Spontaneous bacterial peritonitis should be treated
with a broad-spectrum antibiotic with good coverage of resistant
pneumococcus and enteric bacteria. Cefotaxime is generally
effective as initial therapy while awaiting culture and sensitivity
results. Anaerobic coverage with metronidazole should be added
whenever a perforated viscus is suspected.
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abdominal pain in children. Arch Dis Child. 2015;101(7):677–683.
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the primary care setting. Pediatrics. 2014;134(3):626–633.
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disease in children. BMJ. 2015;350:g7703.
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Kulik DM, Uleryk EM, Maguire JL. Does this child have appendicitis? A
systematic review of clinical prediction rules for children with acute
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PEARLS FOR PRACTITIONERS
CHAPTER 126
Digestive System Assessment
Take a careful history and perform a thorough but focused
physical examination, using your findings to form a diag-
nostic hypothesis and plan.
Surgical emergencies, such as bowel obstruction or appen-
dicitis, must be identified rapidly in children with acute
abdominal pain. Common distinguishing characteristics
include pain that is accompanied by vomiting, tenderness,
abdominal wall rigidity, or guarding.
Extraintestinal disorders (lower lobe pneumonia, pyelone-
phritis) may produce abdominal pain.
When evaluating recurrent abdominal pain, a complete
work-up must include not only a medical evaluation, but
also assessment of functional impairment, such as missing
school, and consideration of psychosocial factors influencing
the pain.
Recurrent abdominal pain is seen in 10% of school age
children and is often functional.
For patients with emesis, remember to distinguish between
true vomiting (forceful retching, preceded usually by nausea)
from regurgitation (effortless, usually no nausea) when
considering the differential diagnosis.
Emesis in a neonate suggests a gastrointestinal (GI) obstruc-
tion such as pyloric stenosis or volvulus; an inborn error of
metabolism should be considered in the presence of acidosis,
hypoglycemia, or hyperammonemia.
When treating a patient with significant gastrointestinal
bleeding, focus on fluid resuscitation and tissue oxygenation/
perfusion as your first priority.
Acute diarrhea is often due to viral gastroenteritis (rotavirus,
norovirus). Dysentery often presents with fever, pain, and
diarrhea with blood and mucus.
Painless rectal bleeding in a 2-year-old would suggest a
Meckel diverticulum; older patients may also have a polyp.
CHAPTER 127
Oral Cavity
Many systemic disorders affect the oral cavity, which
careful examination can demonstrate. Examples include
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van Heurn LW, Pakarinen MP, Wester T. Contemporary management of
abdominal surgical emergencies in infants and children. Br J Surg.
2014;101(1):e24–e33.
Verkade HJ, Bezerra JA, Davenport M, et al. Biliary atresia and other
cholestatic childhood diseases: advances and future challenges. J Hepatol.
2016;65(3):631–642.
Peutz-Jeghers syndrome, Crohn disease, gastroesophageal
reflux disease (GERD), Addison disease, and leukemia.
Deciduous teeth erupt in a predictable sequence and age.
Significant delayed eruption may be associated with hypo-
thyroidism, Down syndrome, and other disorders.
Cleft lip and palate are common birth defects; combined
cleft lip and palate is more common in males and isolated
cleft palate is more likely to be associated with other congenital
malformations.
CHAPTER 128
Esophagus and Stomach
As many as half of infants will have physiological reflux.
The majority of infants do not benefit from acid reduction
therapy.
Gastroesophageal reflux disease occurs when there are
complications of reflux such as poor growth, esophagitis,
abdominal or chest pain, or respiratory problems.
Reflux cannot be diagnosed based on imaging as this is only
a snapshot in time. Upper gastrointestinal series evaluates
for anatomical abnormalities.
In an older child who has not improved with lifestyle changes,
a trial with a proton pump inhibitor is recommended.
Eosinophilic esophagitis should be considered in children
with poor feeding or growth, chronic abdominal pain or
vomiting, and in children with dysphagia or recurrent food
impactions.
Diagnosis of eosinophilic esophagitis requires endoscopy
and biopsy. Overlap of findings is seen with gastroesophageal
reflux disease.
Treatment of eosinophilic esophagitis includes dietary changes
or topical glucocorticoid therapy.
The six food elimination diet (cow milk, soy, wheat, egg,
peanuts, fish/shellfish) has been recommended as an approach
to eosinophilic esophagitis (EoE).
A neonate with poor feeding and drooling with a nasogastric
tube on x-ray coiled in the neck most likely has a tracheo-
esophageal fistula.
Button batteries in the esophagus must be removed imme-
diately. Two or more ingested magnets should be removed
as soon as possible due to risk of perforation.
506 SECTION 17 DIGESTIVE SYSTEM
Infants with pyloric stenosis develop hypochloremic,
hypokalemic metabolic alkalosis.
The diagnosis of pyloric stenosis may be made with abdominal
ultrasonography.
Helicobacter pylori cannot be reliably tested by blood tests.
Urea breath hydrogen testing, endoscopy with biopsies, and
fecal antigen testing can be considered.
Cyclic vomiting syndrome is a migraine variant that leads
to repeated bouts of repetitive vomiting over hours to days.
CHAPTER 129
Intestinal Tract
Bile-stained emesis in an infant may suggest a volvulus.
Intestinal malrotation may lead to a volvulus with subsequent
intestinal infarction.
Passage of first meconium after 24 hours of life should raise
suspicion for Hirschsprung disease.
Hirschsprung disease is diagnosed by suction rectal biopsy.
Duodenal atresia is associated with trisomy 21 and prema-
turity. There may also be polyhydramnios.
Suspect Crohn disease in a child with poor growth, delayed
puberty, fatigue, and abdominal pain. Initial testing may
show anemia, thrombocytosis, elevated sedimentation rate
and C-reactive protein, and hypoalbuminemia, but can be
normal.
Fecal calprotectin is an inflammatory marker of intestinal
inflammation. Normal fecal calprotectin makes inflammatory
bowel disease diagnosis unlikely.
Recommended serological testing for celiac disease is the
tissue transglutaminase antibody immunoglobulin A (IgA).
Confirmation of the diagnosis by duodenal biopsy is recom-
mended prior to initiating a gluten-free diet.
Celiac disease is associated with type 1 diabetes, thyroiditis,
Turner syndrome, and trisomy 21.
Intussusception is a common cause of acute colicky abdominal
pain in toddlers; there may also be rectal bleeding and
intestinal obstruction.
The diagnosis of intussusception is suggested by abdominal
ultrasonography but confirmed and treated by barium or
air enema.
Appendicitis can occur at any age but is most common in
adolescents and young adults.
Periumbilical pain followed by nausea followed by right
lower quadrant pain is suggestive of appendicitis.
CHAPTER 130
Liver Disease
Infants with jaundice that persists beyond a few weeks of
life should have both total and direct (conjugated) bilirubin
measured to assure that cholestasis is not missed.
Neonatal giant cell hepatitis may be due to cytomegalovirus
(CMV), herpes simplex, or syphilis.
Alpha 1 antitrypsin deficiency may present like neonatal
hepatitis.
Alagille syndrome presents with chronic cholestasis due to
paucity of bile ducts and is associated with itch, butterfly
vertebra, and ocular posterior embryotoxon.
Cholestasis in infants requires prompt investigation to identify
treatable causes such as biliary atresia, choledochal cyst,
and certain disorders of metabolism.
Work-up of hepatitis in children requires consideration of
more than just the classic hepatitis viruses and should include
evaluation for autoimmune hepatitis, Wilson disease, and
biliary obstruction, as well as measures of liver function.
Wilson disease is associated with low serum ceruloplasmin
and elevated urine copper.
Consultation with a major referral center should be sought
for any child with acute severe hepatitis or chronic
hepatitis.
CHAPTER 131
Pancreatic Disease
Fecal elastase is the preferred test for pancreatic
insufficiency.
Cystic fibrosis is the most common cause of pancreatic
insufficiency in the United States.
The diagnosis of acute pancreatitis is based on symptoms
of severe epigastric abdominal pain and tenderness, increase
of amylase and/or lipase more than three times the upper
limit of normal, and/or imaging findings of pancreatic
inflammation.
Complications of pancreatitis include shock, pancreatic
pseudocyst formation, and pancreatic abscess.
Patients with pancreatitis may feed enterally if tolerated.
In patients with recurrent pancreatitis, consider hereditary
disorders such as cystic fibrosis or familial pancreatitis
involving mutations in CFTR, PRSS1, SPINK1 or CTRC.
CHAPTER 132
Peritonitis
Acute abdominal pain must be investigated rapidly with a
comprehensive history and physical examination.
When peritonitis is suspected, appropriate laboratory and
imaging studies should be ordered to reveal underlying
conditions, such as appendicitis.
Nephrotic syndrome, heart failure, and chronic liver disease
are associated with an increased risk of spontaneous bacterial
peritonitis due to chronic presence of ascites.
Spontaneous bacterial peritonitis is most commonly caused
by Streptococcus pneumoniae or by Escherichia coli.
Paracentesis is required to accurately diagnose
pancreatitis.
Analysis of ascites fluid obtained with a needle should include
culture, cell count with differential, amylase, albumin, and
lactate dehydrogenase.