First Aid for the Pediatrics Clerkship, 3 Ed.

Gastrointestinal Disease

 

ESOPHAGEAL ATRESIA

Image

A full-term infant was noted to have copious oral secretions requiring frequent suctioning to prevent choking. Attempts to place a nasogastric tube were unsuccessful, with the tube curling in the esophagus. X-ray is shown in the figure. What is the likely diagnosis and management of this condition?

The nasogastric tube with the tip in the proximal esophagus and failure to advance further signifies an esophageal atresia. The most common type is where the proximal esophagus ends in a blind pouch (as in this case) and there is a distal tracheoesophageal fistula. Also evident are ribs and vertebral anomalies in this case. This could be part of VATER (vertebral anomalies, anal atresia, tracheoesophageal anomalies, renal anomalies) syndrome. Infant was noted to have a single right kidney on renal ultrasound. Management includes surgical repair of the tracheoesophageal fistula.


Image

Esophageal atresia can be associated with the VACTERL sequence:

Vertebral

Anorectal

Cardiac

Tracheal

Esophageal

Renal

Limb anomalies


DEFINITION

Image The esophagus ends blindly ∼ 10-12 cm from the nares.

Image Occurs in 1/3000-1/4500 live births.

Image In 85% of cases the distal esophagus communicates with the posterior trachea (distal tracheoesophageal fistula [TEF]).

SIGNS AND SYMPTOMS

Image History of maternal polyhydramnios.

Image Newborn with Image oral secretions.

Image Choking, cyanosis, coughing during feeding (more commonly aspiration of pharyngeal secretions).

Image Esophageal atresia with fistula.

Image Aspiration of gastric contents via distal fistula—life threatening (chemical pneumonitis).

Image Tympanitic distended abdomen.

Image Esophageal atresia without fistula.

Image Recurrent coughing with aspiration pneumonia (delayed diagnosis).

Image Aspiration of pharyngeal secretions common.

Image Airless abdomen on abdominal x-ray.


Image

Suspect esophageal atresia in a neonate with drooling and excessive oral secretions.


DIAGNOSIS

Image Usually made at delivery.

Image Unable to pass nasogastric tube (NGT) into stomach (see coiled NGT on chest x-ray).

Image May also use contrast radiology, video esophagram, or bronchoscopy.

Image Chest x-ray (CXR) demonstrates air in upper esophagus (see Figure 11-1).


Image

Inability to pass a rigid nasogastric tube from the mouth to the stomach is diagnostic of esophageal atresia.


TREATMENT

Surgical repair (may be done in stages).

Image

FIGURE 11-1. Esophageal atresia.

Radiograph demonstrating air in the upper esophagus (arrow) and GI tract, consistent with esophageal atresia.

ESOPHAGEAL FOREIGN BODY

Image Most commonly due to swallowing of radiopaque objects: Coins, pins, pills, screws, and batteries.

Image Preexisting abnormalities (ie, tracheoesophageal repair) result in Image risk of having foreign body impaction at site of abnormality.

Image Site of impaction:

Image 70%: Thoracic inlet (between clavicles on CXR).

Image 15%: Midesophagus.

Image 15%: Lower esophageal sphincter (LES).


Image

The most common site of esophageal impaction is at the thoracic inlet.


SIGNS AND SYMPTOMS

Image Gagging/choking.

Image Difficulty with secretions.

Image Dysphagia/food refusal.

Image Throat pain or chest pain.

Image Emesis/hematemesis.

DIAGNOSIS

Image History, sometime witnessed event.

Image X-ray (AP/lateral CXR, see Figure 11-2).

TREATMENT

Image Objects found within the esophagus are generally considered impacted.

Image Generally require endoscopic treatment if symptomatic or fail to pass to stomach (below diaphragm on x-ray) within a few hours.

Image

FIGURE 11-2. Esophageal foreign body.

A coin in the esophagus will be seen flat or en face on an AP radiograph, and on its edge on a lateral view. (Photo courtesy of Dr. Julia Rosekrans.)

Image Impacted objects, pointed objects, and batteries must be removed immediately.

Image Important to assess time of ingestion; > 24 hours can Image erosion or necrosis of esophageal wall.


Image

Button batteries may rapidly cause local necrosis.


GASTROESOPHAGEAL REFLUX DISEASE (GERD)

Image

An 8-month-old preterm infant has been hospitalized for 4 months in the neontal care unit. In the past 2 weeks, the nurses have noted that he is regurgitating several times an hour. He makes chewing movements preceding these episodes of regurgitation. Think: Rumination.

Gastroesophageal reflux (GER) is common in preterm infants. Transient relaxation of the lower esophageal sphincter is the most common mechanism implicated. Signs and symptoms include apnea, chronic lung disease, poor weight gain, and behavioral symptoms. Frequent regurgitation and feeding difficulties may occur.

DEFINITION

Image Passive reflux of gastric contents due to incompetent lower esophageal sphincter (LES).

Image Approximately 1 in 300 children suffer from significant reflux and complication.

Image Functional gastroesophageal reflux is most common.

RISK FACTORS

Image Prematurity.

Image Neurologic disorders.

Image Incompetence of LES due to prematurity, asthma.

Image Medications (theophylline, calcium channel blockers or β-blockers).


Image

GERD is the etiology for Sandifer syndrome (reflux, back arching, stiffness, and torticollis). Sandifer syndrome is most often confused with a neurologic or apparent life-threatening event.


SIGNS AND SYMPTOMS

Image Excessive spitting up in the first week of life (in 85% of affected).

Image Symptomatic by 6 weeks (10%).

Image Symptoms resolve without treatment by age 2 (60%).

Image Forceful vomiting (occasional).

Image Aspiration pneumonia (30%).

Image Chronic cough, wheezing, and recurrent pneumonia (later childhood).

Image Rarely may cause laryngospasm, apnea, and bradycardia.

Image Regurgitation.

DIAGNOSIS

Image Clinical assessment in mild cases.

Image Esophageal pH probe studies and barium esophagography in severe cases.

Image Esophagoscopy with biopsy for diagnosis of esophagitis.

TREATMENT

Image Positioning following feeds—keep infant upright up to an hour after feeds.

Image In older children, mealtime more than 2 hours before sleep and sleeping with head elevated.

Image Thickening formula with rice cereal.

Image Medications:

Image Antacids, histamine-2 (H2) blockers (ranitidine) and proton pump inhibitors (PPIs; omeprazole).

Image Motility agents such as metoclopramide and erythromycin (stimulate gastric emptying).

Image Surgery—Nissen fundoplication.

PEPTIC ULCER

DEFINITION

Includes primary and secondary (related to stress).

SIGNS AND SYMPTOMS

Image Primary—pain, vomiting, and acute and chronic gastrointestinal (GI) blood loss.

Image First month of life: GI hemorrhage and perforation.

Image Neonatal–2 months: Recurrent vomiting, slow growth, and GI hemorrhage.

Image Preschool: Periumbilical and postprandial pain (with vomiting and hemorrhage).

Image > 6 years: Epigastric abdominal pain, acute/chronic GI blood loss with anemia.

Image Secondary:

Image Stress ulcers secondary to sepsis, respiratory or cardiac insufficiency, trauma, or dehydration in infants.

Image Related to trauma or other life-threatening events (older children).

Image Stress ulcers and erosions associated with burns (Curling ulcers).

Image Ulcers following head trauma or surgery usually Cushing ulcers.

Image Drug related—nonsteroidal anti-inflammatory drugs (NSAIDs) or steroids.

Image Infectious—Helicobacter pylori.

DIAGNOSIS

Image Upper GI endoscopy.

Image Barium meal not sensitive.

Image Plain x-rays may diagnose perforation of acute ulcers.

Image Angiography can demonstrate bleeding site.

Image H pylori testing (hydrogen breath test, stool antigen).

TREATMENT

Image Antibiotics for eradication of H pylori: Triple therapy—PPI + 2 antibiotics (amoxicillin, clarithromycin, PPI).

Image Antacids, sucralfate, and misoprostol.

Image H2 blockers and PPIs.

Image Give prophylaxis for peptic ulcer when child is NPO or is receiving steroids.

Image Endoscopic cautery.

Image Surgery (vagotomy, pyloroplasty, or antrectomy) for extreme cases.


Image

Antimicrobials: 14 days PPIs: 1 month


COLIC

DEFINITION

Image Rule of 3's: Crying > 3 hours/day, > 3 days/week for > 3 weeks between the ages of 3 weeks and 3 months.

Image Frequent complex of paroxysmal abdominal pain, severe crying.

Image Usually in infants < 3 months old.

Image Etiology unknown. Can be related to under- or overfeeding, milk protein allergy, parental stress, and smoking.

Image Colic is a diagnosis of exclusion. First look for other causes (hair in eye, corneal abrasion, strangulated hernia, otitis media, sepsis, etc.).


Image

A head-to-toe examination is essential.

Physical examination MUST be normal.


SIGNS AND SYMPTOMS

Image Sudden-onset loud crying (paroxysms may persist for several hours).

Image Facial flushing.

Image Circumoral pallor.

Image Distended, tense abdomen.

Image Legs drawn up on abdomen.

Image Feet often cold.

Image Temporary relief apparent with passage of feces or flatus.

TREATMENT

Image No single treatment provides satisfactory relief.

Image Careful exam is important to rule out other causes.

Image Improve feeding techniques (burping).

Image Avoid over- or underfeeding.

Image Resolves spontaneously with time.


Image

Parents and caretakers of children with colic are often very stressed out, putting the child at risk for child abuse.


PYLORIC STENOSIS

Image

A 4-week-old male infant has a 5-day history of vomiting after feedings. Physical exam shows a hungry infant with prominent peristaltic waves in the epigastrium. Laboratory evaluation revealed the following: Na 129, Cl 92, HCO3 28, K 3.1, BUN 24). Think: Hypertrophic pyloric stenosis.

Pyloric stenosis is the most common cause of intestinal obstruction in infants. It is more common in males (M:F 4:1). It usually presents during the third to fifth week of life. Initial symptom is nonbilious vomiting. Classic sign of olive mass is not as common since increasing awareness has resulted in ultrasound imaging and early diagnosis. Criteria for diagnosis include pyloric muscle thickness > 4 mm and length of pyloric canal > 14 mm. Hypochloremic, hypokalemic metabolic alkalosis is the classic electrolyte abnormality.

DEFINITION

Image Most common etiology is idiopathic.

Image Not usually present at birth.

Image Associated with exogenous administration of erythromycin, eosinophilic gastroenteritis, epidermolysis bullosa, trisomy 18, and Turner syndrome.

Image First-born male.

SIGNS AND SYMPTOMS

Image Typical: Projectile vomiting, palpable mass and peristalsis—not always present.

Image Nonbilious vomiting (projectile or not).

Image Usually progressive, after feeding.

Image Usually after 3 weeks of age, may be as late as 5 months.

Image Hypochloremic, hypokalemic metabolic alkalosis (rare these days due to earlier diagnosis).

Image Palpable pyloric olive-shaped mass in midepigastrium (difficult to find).

Image Visible peristalsis: Left to right.

DIAGNOSIS

Image Ultrasound (90% sensitivity).

Image Elongated pyloric channel (> 14 mm).

Image Thickened pyloric wall (> 4 mm).

Image Radiographic contrast series (Figure 11-3).

Image String sign: From elongated pyloric channel.

Image Shoulder sign: Bulge of pyloric muscle into the antrum.

Image Double tract sign: Parallel streaks of barium in the narrow channel.

TREATMENT

Image Surgery: Pyloromyotomy is curative.

Image Must correct existing dehydration and acid-base abnormalities prior to surgery.

Image

FIGURE 11-3. Abdominal x-ray on the left demonstrates a dilated air-filled stomach with normal caliber bowel, consistent with gastric outlet obstruction.

Barium meal figure on the right confirms diagnosis of pyloric stenosis. The dilated duodenal bulb is the “olive” felt on physical exam. Note how there is a paucity of contrast traveling through the duodenum. (Photo courtesy of Drs. Julia Rosekrans and James E. Colletti.)

DUODENAL ATRESIA

DEFINITION

Image Failure to recanalize lumen after solid phase of intestinal development.

Image Several forms.

SIGNS AND SYMPTOMS

Image Bilious vomiting without abdominal distention (first day of life). Onset of vomiting within hours of birth.

Image Can be nonbilious if the defect is proximal to the ampulla of Vater.

Image Scaphoid abdomen.

Image Placement of orogastric tube typically yields a significant amount of bile-stained fluid.

Image History of polyhydramnios in 50% of pregnancies.

Image Down syndrome seen in 20-30% of cases.

Image Associated anomalies include malrotation, esophageal atresia, and congenital heart disease.

DIAGNOSIS

Image Clinical.

Image X-ray findings: Double-bubble sign (air bubbles in the stomach and duodenum) proximal to the site of atresia (Figure 11-4).

Image

FIGURE 11-4. Duodenal atresia.

Gas-filled and dilated stomach show the classic “double-bubble” appearance of duodenal atresia. Note no distal gas is present. (Reproduced, with permission, from Rudolph CD, et al (eds). Rudolph's Pediatrics, 21st ed. New York: McGraw-Hill, 2002: 1403.)

TREATMENT

Image Initially, nasogastric and orogastric decompression with intravenous (IV) fluid replacement.

Image Treat life-threatening anomalies.

Image Surgery.

Image Duodenoduodenostomy.

VOLVULUS

DEFINITION

Image Gastric and intestinal:

Image Gastric: Sudden onset of severe epigastric pain; intractable retching with emesis.

Image Intestinal: Associated with malrotation (Figure 11-5).

Image Volvulus occurs as a consequence of intestinal malrotation—obstruction is complete, and compromise to the blood supply of the midgut has started.

RISK FACTORS

Image Embryological abnormalities: Arrest of development at any stage during embryological development of GI tract can Image changes in anatomical position of organs and narrowing of mesenteric base, resulting in Image risk for volvulus.

Image Male-to-female presentation: 2:1.

Image

FIGURE 11-5. Volvulus.

First AP view done 6 weeks prior to the second AP and corresponding lateral view. Note the markedly dilated stomach above the normal level of the left hemidiaphragm in the thoracic cavity. Also present is a large left-sided diaphragmatic hernia. (Photo courtesy of Dr. Julia Rosekrans.)

SIGNS AND SYMPTOMS

Image Vomiting in infancy.

Image Emesis (commonly bilious).

Image Abdominal pain Image acute abdomen.

Image Early satiety.

Image Blood-stained stools.

Image Distention.

Image A neonate with bilious vomiting must be considered at risk for having a midgut volvulus.

DIAGNOSIS

Image Plain abdominal films: Characteristic bird-beak appearance.

Image May also see air-fluid level without beak.

TREATMENT

Image Treatment is surgical correction.

Image Gastric: Emergent surgery.

Image Intestinal: Surgery or endoscopy.

COMPLICATIONS

Image Perforation

Image Peritonitis

INTUSSUSCEPTION

Image

A 9-month-old female infant was brought to the ED due to vomiting and crying. She had a “cold” 3 days ago. On arrival she was sleepy but arousable. When she woke up, she cried and vomited. Physical examination revealed distended abdomen with an ill-defined mass in the right upper abdomen. What is the cause of her symptoms? Intussusception.

How she should be treated? A contrast enema should be performed to reduce the intussusception. It is both diagnostic and therapeutic. It should be performed in consultation with a pediatric surgeon caring for the child and a pediatric radiologist interpreting the study. It is the most common cause of intestinal obstruction between 5 months and 6 years of age. Most children with intussusception are under 1 year of age. The classic triad of intermittent, colicky abdominal pain; vomiting; and bloody, mucous stools occurs in only 20-40%.

DEFINITION

Invagination of one portion of the bowel into itself. The proximal portion is usually drawn into the distal portion by peristalsis.

EPIDEMIOLOGY

Image Incidence: 1-4 in 1000 live births.

Image Male-to-female ratio: 2:1 to 4:1.

Image Peak incidence: 5-12 months.

Image Age range: 2 months to 5 years.

Image Most common cause of acute intestinal obstruction under 2 years of age.

Image Most common site is ileocolic (90%).


Image

Intussusception is the most common cause of bowel obstruction in children ages 2 months to 5 years.


ETIOLOGY

Image Most common etiology is idiopathic.

Image Other causes:

Image Viral (enterovirus in summer, rotavirus in winter).

Image A “lead point” (or focus) is thought to be present in older children 2-10% of the time. These lead points can be caused by Meckel's diverticulum, polyp, lymphoma, Henoch-Schönlein purpura, cystic fibrosis.

SIGNS AND SYMPTOMS

Image Classic triad:

Image Intermittent colicky abdominal pain.

Image Bilious vomiting.

Image Currant jelly stool (late finding).

Image Neurologic signs:

Image Lethargy

Image Shocklike state

Image Seizure activity

Image Apnea

Image Right upper quadrant mass:

Image Sausage shaped.

Image III defined.

Image Dance's sign: Absence of bowel in right lower quadrant.


Image

Intussusception

Image Classic triad is present in only 20% of cases.

Image Absence of currant jelly stool does not exclude the diagnosis.

Image Neurologic signs may delay the diagnosis.


DIAGNOSIS

Image Abdominal x-ray:

Image X-ray is neither specific nor sensitive. Can be completely normal.

Image Paucity of bowel gas (Figure 11-6).

Image Loss of visualization of the tip of liver.

Image “Target sign”: Two concentric circles of fat density.

Image Ultrasound:

Image Test of choice.

Image “Target” or “donut” sign: Single hypoechoic ring with hyperechoic center.

Image “Pseudokidney” sign: Superimposed hypoechoic (edematous walls of bowel) and hyperechoic (areas of compressed mucosa) layers.

Image Barium enema:

Image Not useful for ileoileal intussusceptions.

Image May note cervix-like mass.

Image Coiled spring appearance on the evacuation film.

Image Contraindications: Peritonitis, perforation, profound shock/hemodynamic instability.

Image Air enema:

Image Air enema is preferred (safe, with a lower absorbed radiation).

Image Often provides the same diagnostic and therapeutic benefit of a barium enema without the barium.

TREATMENT

Image Correct dehydration.

Image NG tube for decompression.

Image Hydrostatic reduction.

Image Barium/air enema (see Figure 11-7).

Image Surgical reduction:

Image Failed reduction by enema.

Image Clinical signs of perforation or peritonitis.

Image Recurrence:

Image With radiologic reduction: 7-10%.

Image With surgical reduction: 2-5%.


Image

Contrast enema for intussusception can be both diagnostic and therapeutic. Rule of threes:

Image Barium column should not exceed a height of 3 feet.

Image No more than 3 attempts.

Image Only 3 minutes/attempt.


Image

FIGURE 11-6. Intussusception.

Note the paucity of bowel gas in film A. Air enema partially reduces it in film B and then completely reduced it in film C.

Image

FIGURE 11 -7. Abdominal x-ray following barium enema in a 2-month-old boy, consistent with intussusception.

Note paucity of gas in right upper quadrant and near obscuring of liver tip.

MECKEL'S DIVERTICULUM

DEFINITION

Persistence of the omphalomesenteric (vitelline) duct (should disappear by seventh week of gestation).

SIGNS AND SYMPTOMS

Image Usually in first 2 years:

Image Intermittent painless rectal bleeding (hematochezia—most common presenting sign).

Image Intestinal obstruction.

Image Diverticulitis.

Image Occurs on the antimesenteric border of the ileum, usually 40-60 cm proximal to the ileocecal valve.


Image

MeckeVs Rules of 2

Image 2% of populnfion

Image 2 inches long

Image 2 feet from the ileocecal valve

Image Patient is usually under 2 years of age

Image 2% are symptomatic


DIAGNOSIS

Image Meckel's scan (scintigraphy) has 85% sensitivity and 95% specificity. Uptake can be enhanced with cimetidine, glucagons, or gastrin.

Image Most common heterotopic mucosa is gastric.


Image

Meckel's diverticulum may mimic acute appendicitis and also act as lead point for intussusception.


TREATMENT

Surgical: Diverticular resection with transverse closure of the enterotomy.

APPENDICITIS

DEFINITION

Image Acute inflammation and infection of the vermiform appendix.

Image Most common cause for emergent surgery in childhood.

Image Perforation rates are greatest in youngest children (can't localize symptoms).

Image Occurs secondary to obstruction of lumen of appendix.

Image Three phases:

1.     Luminal obstruction, venous congestion progresses to mucosal ischemia, necrosis, and ulceration.

2.     Bacterial invasion with inflammatory infiltrate through all layers.

3.     Necrosis of wall results in perforation and contamination.

SIGNS AND SYMPTOMS

Image Classically: Pain, vomiting, and fever.

Image Initially, periumbilical pain; emesis infrequent.

Image Anorexia.

Image Low-grade fever.

Image Diarrhea infrequent.

Image Pain radiates to right lower quadrant.

Image Perforation rate > 65% after 48 hours.

Image Rectal exam may reveal localized mass or tenderness.

DIAGNOSIS

Image History and physical exam is key to rule out alternatives first.

Image Pain usually occurs before vomiting, diarrhea, or anorexia.

Image Atypical presentations are common—risk for misdiagnosis.

Image Most common misdiagnosis: Gastroenteritis.

Image Labs helpful to rule other diagnosis but no laboratory test specific for appendicitis.

Image Computed tomographic (CT) scan (Figure 11-8) indicated for patients in whom diagnosis is equivocal—not a requirement for all patients.

Image Higher rate of ruptured appendix on presentation in young children.

TREATMENT

Image Surgery as soon as diagnosis made.

Image Antibiotics are controversial in nonperforated appendicitis.

Image Broad-spectrum antibiotics needed for cases of perforation (ampicillin, gentamicin, clindamycin, or metronidazole × 7 days).

Image Laparoscopic removal associated with shortened hospital stay (nonperforated appendicitis).

Image

FIGURE 11-8. Abdominal CT of a 10-year-old girl demonstrating enlargement of the appendix, some periappendiceal fluid, and an appendicolith (arrow), consistent with acute appendicitis.

CONSTIPATION

Image

A 4-year-old girl has not had a bowel movement for a week, and this has been a recurring problem. Various laxatives and enemas have been tried in the past. Prior to toilet training, the girl had one bowel movement a day. Physical examination is normal except for the presence of stool in the sigmoid colon and hard stool on rectal examination. After removing the impaction, the next appropriate step in management would be to administer mineral oil or other stool softener.

Constipation is a common problem in children. It is the most common cause of abdominal pain in children. Functional constipation is more common in children, and organic causes are common in neonates. The physical examination often reveals a large volume of stool palpated in the suprapubic region. The finding of rectal impaction may establish the diagnosis.

DEFINITION/SIGNS AND SYMPTOMS

Image Common cause of abdominal pain in children.

Image Passage of bulky or hard stool at infrequent intervals.

Image During the neonatal period usually caused by Hirschsprung, intestinal pseudo-obstruction, or hypothyroidism.

Image Other causes include organic and inorganic (eg, cow's milk protein intolerance, drugs).

Image May be metabolic (dehydration, hypothyroidism, hypokalemia, hypercalcemia, psychiatric).

TREATMENT

Image Image oral fluid and fiber intake.

Image Stool softeners (eg, mineral oil).

Image Glycerin suppositories.

Image Cathartics such as senna or docusate.

Image Nonabsorbable osmotic agents (polyethylene glycol) and milk of magnesia for short periods only if necessary—can cause electrolyte imbalances.

HIRSCHSPRUNG'S MEGACOLON

Image

A full-term male infant was noted to have progressive abdominal distention on the second day of life, with no stool since birth. He was feeding well on demand whether mother's milk or infant formula. He was otherwise healthy, active, and had no signs of infection. Abdominal x-ray and barium enema are shown in the figure. What is the diagnosis and management of this infant?

Abdominal x-ray is consistent with distended loops of bowel with no evidence of free air. Contrast enema is notable for a narrowed segment of the colon leading to a very distended loop. The diagnosis is likely Hirschsprung disease, as there is a narrowed transitional zone followed by distended loop as described. Hirschsprung disease results from absence of ganglion cells in the bowel wall and resultant narrowed segment of the bowel. The proximal normal bowel progressively dilates due to accumulated food. Definitive diagnosis is made by rectal biopsy, which demonstrates absent ganglion cells.

DEFINITION

Image Abnormal innervation of bowel (ie, absence of ganglion cells in bowel).

Image Image in familial incidence.

Image Occurs in males more than females.

Image Associated with Down syndrome.

SIGNS AND SYMPTOMS

Image Delayed passage of meconium at birth.

Image Image abdominal distention Image Image blood flow Image deterioration of mucosal barrier Image bacterial proliferation Image enterocolitis.

Image Chronic constipation and abdominal distention (older children).

DIAGNOSIS

Image Rectal manometry: Measures pressure of the anal sphincter.

Image Rectal suction biopsy: Must obtain submucosa to evaluate for ganglionic cells.

TREATMENT

Surgery is definitive (usually staged procedures).

IMPERFORATE ANUS

DEFINITION

Image Absence of normal anal opening.

Image Rectum is blind; located 2 cm from perineal skin.

Image Sacrum and sphincter mechanism well developed.

Image Prognosis good.

Image Can be associated with VACTERL anomalies.

SIGNS AND SYMPTOMS

Image First newborn examination in nursery.

Image Failure to pass meconium.

Image Abdominal distention.

DIAGNOSIS

Image Physical examination.

Image Abdominal ultrasonography to examine the genitourinary tract.

Image Sacral radiography

Image Spinal ultrasound: Association with spinal cord abnormalities, particularly spinal cord tethering.


Image

Imperforate anus is frequently associated with Down syndrome and VACTERL.


TREATMENT

Surgery (colostomy in newborn period).

ANAL FISSURE

Image

A well-nourished 3-month-old infant is brought to the ED because of constipation, blood-streaked stools, and excessive crying on defecation. Think: Anal fissure.

Anal fissure is a painful linear tear or crack in the distal anal canal. Constipation may be exacerbated because of fear of pain with defecation. Diagnosis often can be made based on history and physical examination.

DEFINITION

Image Painful linear tears in the anal mucosa below the dentate line induced by constipation or excessive diarrhea.

Image Tear of squamous epithelium of anal canal between anocutaneous junction and dentate line.

Image Often history of constipation is present.

Image Predilection for the posterior midline.

Image Common age: 6-24 months.

SIGNS AND SYMPTOMS

Image Pain with defecation/crying during bowel movement.

Image Image sphincter tone.

Image Visible tear upon gentle lateral retraction of anal tissue.

DIAGNOSIS

Anal inspection.

TREATMENT

Sitz baths, fiber supplements, Image fluid intake.

INFLAMMATORY BOWEL DISEASE

DEFINITION

Idiopathic chronic diseases include Crohn disease and ulcerative colitis (UC).

EPIDEMIOLOGY

Image Common onset in adolescence and young adulthood.

Image Bimodal pattern in patients 15-25 and 50-80 years of age.

Image Genetics: Image concordance with monozygotic twins versus dizygotic (Image for Crohn versus UC).

SIGNS AND SYMPTOMS (TABLE 11-1)

Image Crampy abdominal pain.

Image Extraintestinal manifestations greater in Crohn than UC.

Image Crohn's: Perianal fistula, sclerosing cholangitis, chronic active hepatitis, pyoderma gangrenosum, ankylosing spondylitis, erythema nodosum.

Image UC: Bloody diarrhea, anorexia, weight loss, pyoderma gangrenosum, sclerosing cholangitis, marked by flare-ups.

TREATMENT

Image Crohn: Corticosteroids, aminosalicylates, methotrexate, azathioprine, cyclosporine, metronidazole (for perianal disease), sitz baths, antitumor necrosis factor-α, surgery for complications.

Image UC: Aminosalicylates, oral corticosteroids, colectomy.

TABLE 11 - 1. Crohn Disease versus Ulcerative Colitis

Image

IRRITABLE BOWEL SYNDROME

DEFINITION

Abdominal pain associated with intermittent diarrhea and constipation without organic basis; ∼ 10% in adolescents.

SIGNS AND SYMPTOMS

Image Abdominal pain.

Image Diarrhea alternating with constipation.

DIAGNOSIS

Image Difficult to make, exclude other pathology.

Image Obtain CBC, ESR, stool occult blood.

TREATMENT

Image None specific.

Image Supportive with reinforcement and reassurance.

Image Address any underlying psychosocial stressors.

ACUTE GASTROENTERITIS AND DIARRHEA

DEFINITION

Image Diarrhea is the excessive loss of fluid and electrolytes in stool, usually secondary to disturbed intestinal solute transport. Technically limited to lower GI tract.

Image Gastroenteritis is an inflammation of the entire (upper and lower) GI tract, and thus involves both vomiting and diarrhea.

EPIDEMIOLOGY

Image Image susceptibility seen in young age, immunodeficiency, malnutrition, travel, lack of breast-feeding, and contaminated food or water.

Image Most common cause of diarrhea in children is viral: (1) rotavirus, (2) enteric adenovirus, (3) Norwalk virus.

Image Bacterial: (1) Campylobacter, (2) Salmonella and Shigella species and enterohemorrhagic Escherichia coli.

Image Children in developing countries often also get infected by bacterial and parasitic pathogens:

Image Enterotoxigenic E coli number one in developing countries.

Image Parasitic causes: (1) Giardia and (2) Cryptosporidium.


Image

Acute diarrhea is usually caused by infectious agents, whereas chronic persistent diarrhea may be secondary to infectious agents, infection of immunocompromised host, or residual symptoms due to intestinal damage.


SIGNS AND SYMPTOMS

Image Important to obtain information regarding frequency and volume.

Image General patient appearance important (well appearing versus ill appearing).

Image Associated findings include cramps, emesis, malaise, and fever.

Image May see systemic manifestations, GI tract involvement, or extraintestinal infections.

Image Extraintestinal findings include vulvovaginitis, urinary tract infection (UTI), and keratoconjunctivitis.

Image Systemic manifestations: Fever, malaise, and seizures.

Image Inflammatory diarrhea: Fever, severe abdominal pain, tenesmus. May have blood/mucus in stool.

Image Noninflammatory diarrhea: Emesis, fever usually absent, crampy abdominal pain, watery diarrhea.


Image

Image Diarrhea and emesis—noninflammatory

Image Diarrhea and fever—inflammatory process

Image Diarrhea and tenesmus—large colon involvement


DIAGNOSIS

Image Examine stool for mucus, blood, and leukocytes (colitis).

Image Fecal leukocyte: Presence of invasive cytotoxin organisms (Shigella, Salmonella).

Image Patients with enterohemorrhagic E coli and Entamoeba histolytica: Minimal to no fecal leukocytes.

Image Obtain stool cultures early.

Image Clostridium difficile toxins: Test if recent antibiotic use.

Image Proctosigmoidoscopy: Diagnosis of inflammatory enteritis.

TREATMENT

Image Rehydration.

Image Oral electrolyte solutions (eg, Pedialyte®).

Image Oral hydration for all but severely dehydrated (IV hydration).

Image Rapid rehydration with replacement of ongoing losses during first 4-6 hours.

Image Do not use soda, fruit juices, gelatin, or tea. High osmolality may exacerbate diarrhea.

Image Start food with BRAT diet.

Image Antidiarrheal compounds are not indicated for use in children.

Image See Table 11-2 for antibiotic treatment of enteropathogens (wait for diagnosis via stool culture, empiric antibiotics generally not indicated).


Image

Diarrhea is a characteristic finding in children poisoned with bacterial toxin of Escherichia coli, Salmonella, Staphylococcus aureus, and Vibrio parahemolyticus, but not Clostridium botulinum.


PREVENTION

Image Hospitalized patients should be placed under contact precautions (hand washing, gloves, gowns, etc.).


Image

BRAT Diet for Diarrhea

Bananas

Rice

Applesauce

Toast


TABLE 11 - 2. Antimicrobial Treatment for Bacterial Enteropathogens

Image


Image

Do not treat E coli O157:H7 with antibiotics, as there is a higher incidence of hemolytic uremic syndrome with treatment.


Image Education.

Image Exclude infected children from child care centers.

Image Report cases of bacterial diarrhea to local health department.

Image Vaccines for cholera and Salmonella typhi are available.

INTESTINAL WORMS

See Table 11-3 for common intestinal worm infestations.

TABLE 11 - 3. Common Intestinal Worms

Image

Image

PSEUDOMEMBRANOUS COLITIS

DEFINITION

Image Major cause of iatrogenic diarrhea.

Image Rarely occurs without antecedent antibiotics (usually) penicillins, cephalosporins, or clindamycin.

Image Antibiotic disrupts normal bowel flora and predisposes to C difficile diarrhea.

Image Stool should be tested for C difficile toxins if there is a recent history of antibiotic use.


Image

The most frequent symptom of infestation with Enterobius vermicularis is perineal pruritus. Can diagnose with transparent adhesive tape to area (worms stick).


SIGNS AND SYMPTOMS

Classically, blood and mucus with fever, cramps, abdominal pain, nausea, and vomiting days or weeks after antibiotics.

DIAGNOSIS

Image Recent history of antibiotic use.

Image C difficile toxin in stool of patient with diarrhea.

Image Sigmoidoscopy or colonoscopy.

TREATMENT

Image Discontinue antibiotics.

Image Oral metronidazole or vancomycin × 7-10 days.

ABDOMINAL HERNIAS

Umbilical

DEFINITION

Image Occurs because of imperfect closure of umbilical ring.

Image Common in low-birth-weight, female, and African-American infants.

Image Soft swelling covered by skin that protrudes while crying, straining, or coughing.

Image Omentum or portions of small intestine involved.

Image Usually 1-5 cm.

TREATMENT

Image Most disappear spontaneously by 1 year of age.

Image Strangulation rare.

Image “Strapping” ineffective.

Image Surgery not indicated unless symptomatic, strangulated, or grows larger after age 1 or 2.

Inguinal

DEFINITION

Image Most common diagnosis requiring surgery.

Image Occurs in 10-20/1,000 live births (50% < 1 year).

Image Indirect > direct (rare) > femoral (even more rare).

Image Indirect secondary to patent processus vaginalis.


Image

In inguinal hernia, processus vaginalis herniates through abdominal wall with hydrocele into canal.


Image

FIGURE 11-9. Inguinal hernia (slippage of bowel through inguinal ring) vs. hydrocele (collection of fluid in scrotum adjacent to testes).

Image Image incidence with positive family history.

Image Embryology: Patent processus vaginalis.

Image Incidence: 1-5%.

Image Males > females 8-10:1.

Image Preemies: 20% males, 2% females.

Image Premature infants have Image risk for inguinal hernia.

Image Sixty percent right (delayed descent of the right testicle), 30% left, 10% bilateral.

SIGNS AND SYMPTOMS

Image Infant with scrotal/inguinal bulge on straining or crying.

Image Do careful exam to distinguish from hydrocele (see Figure 11-9).

Image Bulge in groin ± scrotum, incarceration.

TREATMENT

Image Surgery (elective).

Image Avoid trusses or supports.

Image Contralateral hernia occurs in 30% after unilateral repair.

Image Antibiotics only in at-risk children (eg, congenital heart disease).

Image Prognosis excellent (recurrence < 1%, complication rate approximately 2%, infection approximately 1%).

Image Complications include incarceration.

Image Therapy: Incarceration–sedation and manipulation 90-95% reduced. Immediate operation if not reduced. Repair soon after diagnosis especially infants since 60% progress to incarceration by 6 months.


Image

Inguinal hernia Image with straining; hydrocele remains unchanged.


PEUTZ-JEGHERS SYNDROME

Image

A 15-year-old girl with spots on her lips has some crampy abdominal pain associated with bleeding. Think: Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome is multiple GI hamartomatous polyps + mucocutaneous hyperpigmentation. There is a higher risk of intestinal and extraintestinal malignancies.

DEFINITION

Image Mucosal pigmentation of lips and gums with hamartomas of stomach, small intestine, and colon.

Image Rare; low malignant potential.

SIGNS AND SYMPTOMS

Image Deeply pigmented freckles on lips and buccal mucosa at birth.

Image Bleeding and crampy abdominal pain.

DIAGNOSIS

Genetic and family studies may reveal history.

TREATMENT

Excise intestinal lesions if significantly symptomatic.

GARDNER SYNDROME

DEFINITION

Multiple intestinal polyps, tumors of soft tissue and bone (especially mandible).

SIGNS AND SYMPTOMS

Image Dental abnormalities.

Image Pigmented lesions in ocular fundus.

Image Intestinal polyps (usually early adulthood) with high malignant potential.

DIAGNOSIS

Image Genetic counseling.

Image Colon surveillance in at-risk children.

TREATMENT

Aggressive surgical removal of polyps.

CARCINOID TUMORS

DEFINITION

Tumors of enterochromaffin cells in intestine—usually appendix.

SIGNS AND SYMPTOMS

Image May cause appendicitis.

Image May cause carcinoid syndrome (Image serotonin, vasomotor disturbances, or bronchoconstriction) if metastatic to the liver.

TREATMENT

Surgical excision.

FAMILIAL POLYPOSIS COLI

DEFINITION/ETIOLOGY

Image Autosomal dominant.

Image Large number of adenomatous lesions in colon.

Image Secondary to germ-line mutations in adenopolyposis coli (APC) gene.

SIGNS AND SYMPTOMS

Image Highly variable.

Image May see hematochezia, cramps, or diarrhea.

Image Extracolonic manifestations possible.

DIAGNOSIS

Image Consider family history (strong).

Image Colonoscopy with biopsy (screening annually after 10 years old if positive family history).

TREATMENT

Surgical resection of affected colonic mucosa.

JUVENILE POLYPOSIS COLI

DEFINITION

Image Most common childhood bowel tumor (3-4% of patients < 21 years).

Image Characteristically, mucus-filled cystic glands (no adenomatous changes, no potential for malignancy).

EPIDEMIOLOGY

Most commonly between 2 and 10 years; less common after 15 years; rarely before 1 year.

SIGNS AND SYMPTOMS

Image Bright red painless bleeding with bowel movement.

Image Iron deficiency.

DIAGNOSIS

Image Colonoscopy.

Image May use barium enema (not best test).

TREATMENT

Surgical removal of polyp.

MALABSORPTION

Short Bowel Syndrome

DEFINITION

Image Occurs with loss of at least 50% of small bowel (with or without loss of large bowel).

Image Image absorptive surface and bowel function.

ETIOLOGY

Image May be congenital (malrotation, atresia, etc.).

Image Most commonly secondary to surgical resection.

SIGNS AND SYMPTOMS

Image Malabsorption and diarrhea.

Image Steatorrhea (fatty stools): Voluminous foul-smelling stools that float.

Image Dehydration.

Image Image sodium and potassium.

Image Acidosis (secondary to loss of bicarbonate).

TREATMENT

Image Total parenteral nutrition (TPN).

Image Give small feeds orally.

Image Metronidazole empirically to treat bacterial overgrowth.

Celiac Disease

Image

A 5-year-old girl presents with a protuberant abdomen and wasted extremities. Think: Gluten-induced enteropathy, Celiac disease is an autoimmune disorder. The disease primarily affects the small intestine. Gluten is the single major factor that triggers celiac disease. Gluten-containing foods include rye, wheat, and barley. Common presentation: diarrhea, borborygmus, abdominal pain, and weight loss. Other systems, including skin, liver, nervous system, bones, reproductive system, and endocrine system, may also be affected. Serologic marker: Serum immunoglobulin A (IgA) endomysial antibodies and IgA tissue transglutaminase (tTG) antibodies.

DEFINITION

Image Sensitivity to gluten in diet.

Image Most commonly occurs between 6 months and 2 years.

ETIOLOGY

Image Factors involved include cereals, genetic predisposition, and environmental factors.

Image Associated with HLA-B8, -DR7, -DR3, and -DQW2.

SIGNS AND SYMPTOMS

Image Diarrhea

Image Failure to thrive

Image Vomiting

Image Pallor

Image Abdominal distention

Image Large bulky stools

DIAGNOSIS

Image Anti-endomysial and anti-tissue transglutaminase antibodies (check total lgH level at the same time).

Image Biopsy: Most reliable test.

TREATMENT

Image Dietary restriction of gluten (must avoid barley, ryes, oats and wheat).

Image Corticosteroids used rarely (very ill patients with profound malnutrition, diarrhea, edema, and hypokalemia).

Tropical Sprue

DEFINITION

Image Generalized malabsorption associated with diffuse lesions of small bowel mucosa.

Image Seen in people who live or have traveled to certain tropical regions—some Caribbean countries, South America, Africa, or parts of Asia.

SIGNS AND SYMPTOMS

Image Fever, malaise, and watery diarrhea, acutely.

Image After 1 week, chronic malabsorption and signs of malnutrition including night blindness, glossitis, stomatitis, cheilosis, muscle wasting.

DIAGNOSIS

Biopsy shows villous shortening, Image crypt depth, and Image chronic inflammatory cells in lamina propria of small bowel.

TREATMENT

Image Antibiotics × 3-4 weeks.

Image Folate.

Image Vitamin B12.

Image Prognosis excellent.

Lactase Deficiency

DEFINITION

Image or absent enzyme that breaks down lactose in the intestinal brush border.

ETIOLOGY

Image Congenital absence reported in few cases.

Image Usual mechanism relates to developmental pattern of lactase activity.

Image Autosomal recessive.

Image Also Image because of diffuse mucosal disease (can occur post viral gastroenteritis).

SIGNS AND SYMPTOMS

Image Seen in response to ingestion of lactose (found in dairy products).

Image Explosive watery diarrhea with abdominal distention, borborygmi, and flatulence.

Image Recurrent, vague abdominal pain.

Image Episodic midabdominal pain (may or may not be related to milk intake).

TREATMENT

Image Eliminate milk from diet.

Image Oral lactase supplement (Lactaid) or lactose-free milk.

Image Yogurt (with lactase enzyme-producing bacteria tolerable in such patients).

HYPERBILIRUBINEMIA

Physiology: See Gestation and Birth chapter.

DEFINITION

Elevated serum bilirubin.

EPIDEMIOLOGY

Image Common and in most cases benign.

Image If untreated, severe indirect hyperbilirubinemia neurotoxic (kernicterus).

Image Jaundice in first week of life in 60% of term and 80% of preterm infants—results from accumulation of unconjugated bilirubin pigment.

SIGNS AND SYMPTOMS

Image Jaundice at birth or in neonatal period.

Image May be lethargic and feed poorly.

DIAGNOSIS

Image Direct and indirect bilirubin fractions.

Image Hemoglobin.

Image Reticulocyte count.

Image Blood type.

Image Examine peripheral smear.


Image

Image Indirect hyperbilirubinemia, reticulosis, and red cell destruction suggest hemolysis.

Image Direct hyperbilirubinemia may indicate hepatitis, cholestasis, inborn errors of metabolism, cystic fibrosis, or sepsis.

Image If reticulocyte count, Coombs', and direct bilirubin are normal, then physiologic or pathologic indirect hyperbilirubinemia is suggested.


TREATMENT

Image Goal is to prevent neurotoxic range.

Image Phototherapy.

Image Exchange transfusion.

Image Treat underlying cause.

Gilbert Syndrome

Benign condition caused by missense mutation in transferase gene resulting in low enzyme levels with unconjugated hyperbilirubinemia.


Image

Children with cholestatic hepatic disease need replacement of vitamins A, D, E, and K (fat soluble).


Crigler-Najjar I Syndrome

DEFINITION

Image Autosomal recessive, secondary to mutations in glucuronyl transferase gene.

Image Parents of affected children show partial defects but normal serum bilirubin concentration.

Image Complete absence of the enzyme uridine diphosphate glycosyltransferase.

Image Much rarer than Gilbert syndrome.

SIGNS AND SYMPTOMS

Image In homozygous infants, will see unconjugated hyperbilirubinemia in first 3 days of life.

Image Kernicterus common in early neonatal period.

Image Some treated infants survive childhood without sequelae.

Image Stools pale yellow.

Image Persistence of Image levels of indirect bilirubin after first week of life in absence of hemolysis suggests this syndrome.

DIAGNOSIS

Image Based on early age of onset and extreme level of bilirubin in absence of hemolysis.

Image Definitive diagnosis made by measuring glucuronyl transferase activity in liver biopsy specimen.

Image DNA diagnosis available.

TREATMENT

Image Maintain serum bilirubin < 20 mg/dL for first 2-4 weeks of life.

Image Repeated exchange transfusion.

Image Phototherapy.

Image Treat intercurrent infections.

Image Hepatic transplant.

Crigler-Najjar II Syndrome

DEFINITION

Image Autosomal dominant with variable penetrance.

Image May be caused by homozygous mutation in glucuronyl transferase isoform I activity.

Image Image enzyme uridine diphosphate glycosyltransferase.

SIGNS AND SYMPTOMS

Image Unconjugated hyperbilirubinemia in first 3 days of life.

Image Concentration remains Image after third week of life.

Image Kernicterus unusual.

Image Stool normal.

Image Infants asymptomatic.

DIAGNOSIS

Image Concentration of bilirubin nearly normal.

Image Image bilirubin after 7- to 10-day treatment with phenobarbital may be diagnostic.

TREATMENT

Phenobarbital for 7-10 days.

Alagille Syndrome

DEFINITION

Image Absence or reduction in number of bile ducts.

Image Results from progressive destruction of the ducts.

SIGNS AND SYMPTOMS

Image Variably expressed.

Image Unusual facies (broad forehead, wide-set eyes, underdeveloped mandible).

Image Ocular abnormalities.

Image Cardiovascular abnormalities (peripheral pulmonic stenosis).

Image Tubulointerstitial nephropathy.

Image Vertebral defect.

PROGNOSIS

Long-term survival good but may have pruritis, xanthomas, and Image cholesterol and neurologic complications.

Zellweger Syndrome

DEFINITION

Image Rare autosomal-recessive condition causing progressive degeneration of liver and kidneys.

Image Occurs in 1 in 100,000 births.

SIGNS AND SYMPTOMS

Image Usually fatal within 6-12 months.

Image Severe generalized hypotonia.

Image Impaired neurologic function with psychomotor retardation.

Image Abnormal head and unusual facies.

Image Hepatomegaly.

Image Renal cortical cysts.

Image Ocular abnormalities.

Image Congenital diaphragmatic hernia.

DIAGNOSIS

Image Absence of peroxisomes in hepatic cells (on biopsy).

Image Genetic testing available.

Extrahepatic Biliary Atresia

DEFINITION

Distal segmental bile duct obliteration with patent extrahepatic ducts up to porta hepatis.

EPIDEMIOLOGY

Image Most common form (85%): Obliteration of entire extrahepatic biliary tree at/above porta.

Image Occurs in 1 in 10,000 to 1 in 15,000 live births.

SIGNS AND SYMPTOMS

Image Acholic stools (stools are very light in color, almost beige).

Image Image incidence of polysplenia syndrome with heterotaxia, malrotation, levocardia, and intra-abdominal vascular anomalies.

DIAGNOSIS

Image Ultrasound.

Image Hepatobiliary scintigraphy.

Image Liver biopsy.

TREATMENT

Image Exploratory laparotomy and direct cholangiography to determine presence and site of obstruction.

Image Direct drainage if lesion is correctable.

Image Surgery if lesion is not correctable (liver transplant, Kasai procedure).

HEPATITIS

Image Continues to be major problem worldwide.

Image Six known viruses cause hepatitis as their primary manifestation—A (HAV), B (HBV), C (HCV), D (HDV), E (HEV), and G (HGV).

Image Many others cause hepatitis as part of their clinical spectrum—herpes simplex virus (HSV), cytomegalovirus (CMV), Epstein-Barr virus (EBV), rubella, enteroviruses, parvovirus.

Image HBV is a DNA virus, whereas HAV, HCV, HDV, HEV, and HGV are RNA viruses.

Image HAV and HEV are not known to cause chronic illness, but HBV, HCV, and HDV cause important morbidity and mortality through chronic infection.

Image HAV causes most cases of hepatitis in children.

Image HBV causes one-third of all cases; HCV found in 20%.

Hepatitis A

DEFINITION

Image RNA-containing member of the Picornavirus family.

Image Found mostly in developing countries.

Image Causes acute hepatitis only.

Image Two thirds of children are asymptomatic.

Image Transmission by person-to-person contact; spread by fecal-oral route.

Image Percutaneous transmission rare, maternal-neonatal not recognized.

Image Image risk in child care centers, contaminated food or water, or travel to endemic areas.

Image Mean incubation 4 weeks (15-50 days).

SIGNS AND SYMPTOMS

Image Abrupt onset with fever, malaise, nausea, emesis, anorexia, and abdominal discomfort.

Image Diarrhea common.

Image Almost all recover but may have relapsing course over several months.

Image Jaundice.

DIAGNOSIS

Image Consider when history of jaundice in family contacts or child care playmates or travel history to endemic region.

Image Serologic criteria:

Image Immunoglobulin M (IgM) anti-HAV present at onset of illness and disappears within 4 months. May persist for > 6 months (acute infection). IgG is detectable at this point.

Image Image alanine transaminase (ALT), aspartate transaminase (AST), bilirubin, and gamma-glutamyl transpeptidase (GGT).

TREATMENT

Image Careful hand washing.

Image Vaccines available (preferred over immunoglobulin in children > 2 years).

Hepatitis B

DEFINITION

Image DNA virus from the Hepadnaviridae family.

Image Most important risk factor for infants is perinatal exposure to hepatitis B surface antigen (HbsAg)-positive mother.

SIGNS AND SYMPTOMS

Image Many cases asymptomatic.

Image Image ALT prior to lethargy, anorexia, and malaise (6-7 weeks post exposure).

Image May be preceded by arthralgias or skin lesions and rashes.

Image May see extrahepatic conditions, polyarteritis, glomerulonephritis, aplastic anemia.

Image Jaundice: Icteric skin and mucous membranes.

Image Hepatosplenomegaly and lymphadenopathy common.


Image

Chronic hepatitis B is a risk factor for hepatocellular carcinoma.


DIAGNOSIS

Image Routine screening requires assay of two serologic markers: HbsAg (all infected persons, Image when symptomatic) and hepatitis B core antigen (HbcAg) (present during acute phase, highly infectious state).

Image HbsAg falls prior to symptom resolution; IgMAb to HbcAg also required because it is Image early after infectivity and persists for several months before being replaced by immunoglobulin G (IgG) anti-HbcAg.

Image HbcAg most valuable; it is present as early as HbsAg and continues to be present later when HBsAg disappears.

Image Only anti-HbsAg detected in persons immunized with hepatitis B vaccine, whereas anti-HbsAb and anti-HbcAg are seen in persons with resolved infection.

PREVENTION

Image Screening blood donors.

Image Screening pregnant women to prevent vertical transmission.

TREATMENT

Image No available medical treatment effective in majority of cases.

Image Interferon-α is approved treatment in children.

Image Liver transplant for patients with end-stage HBV.

Hepatitis C

DEFINITION

Image Single-stranded RNA virus.

Image Perinatal transmission described but uncommon except with high-titer HCV.

SIGNS AND SYMPTOMS

Image Acute infection similar to other hepatitis viruses.

Image Mild and insidious onset.

Image Fulminant liver failure rare.

Image After 20-30 years, 25% progress to cirrhosis, liver failure, or primary hepatocellular carcinoma.

Image May see cryoglobulinemia, vasculitides, and peripheral neuropathy (extrahepatic).

DIAGNOSIS

Image Detection of antibodies to HCV or direct testing for RNA virus.

Image Polymerase chain reaction (PCR) detection possible.

Image Image ALT.

Image Confirmed by liver biopsy.

TREATMENT

Image Treat to prevent progression to future complications.

Image INF-α2b for patients with compensated liver disease (response rate long term ∼ 25%).

Image May use with ribavirin for higher frequency of sustained response.

Hepatitis D (Delta Agent)

DEFINITION

Image Smallest known animal virus.

Image Cannot produce infection without HBV infection (coinfective or super-infection).

Image Transmission by intimate contact.

SIGNS AND SYMPTOMS

Image Similar to but more severe than other hepatitis viruses.

Image In coinfection, acute hepatitis is more severe, risk of developing chronic hepatitis low; in superinfection, risk of fulminant hepatitis is highest.

DIAGNOSIS

Detect IgM antibody to HDV (2-4 weeks after coinfection, 1 week after super-infection).

PREVENTION

No vaccine for hepatitis D, but can minimize against hepatitis B (needs hepatitis B to infect).

Hepatitis E

DEFINITION

Image RNA virus with nonenveloped sphere shape with spikes (similar to caliciviruses).

Image Non-A, non-B hepatitis.

SIGNS AND SYMPTOMS

Image Similar to HAV, but more severe.

Image No chronic illness.

Image High prevalence of fulminant hepatic failure and death in pregnant women.

DIAGNOSIS

Image Antibody to HEV exists.

Image IgM and IgG assays available.

Image Can detect viral RNA in stool and serum by PCR.

PREVENTION

No vaccines available.

Hepatitis G

DEFINITION

Image Single-stranded RNA virus of Flaviviridae family.

Image Virus not yet isolated.

Image Reported in all population groups in ~ 1.5% U.S. blood donors.

Image One percent transmission through transfusions but also by organ transplant.

Image Vertical transmission occurs.

SIGNS AND SYMPTOMS

Image Symptoms associated with hepatic inflammation.

Image Coinfection does not worsen course of HBV or HCV.

DIAGNOSIS

Only PCR assays available for testing.

TREATMENT

No method available.

Neonatal Hepatitis

DEFINITION

Image Hepatic inflammation of unknown etiology.

Image Most result from systemic disease (eg, sepsis).

Image Also caused by CMV, HSV, human immunodeficiency virus (HIV).

Image Nonviral causes include congenital syphilis and toxoplasmosis.

Image HBV results in asymptomatic infection.

SIGNS AND SYMPTOMS

Image Jaundice.

Image Vomiting.

Image Poor feeding.

Image Image liver enzyme levels.

Image Fulminant hepatitis.

TREATMENT

Image Antibiotics for bacteria-associated hepatitis.

Image Acyclovir for HSV.

Image Ganciclovir and foscarnet for CMV.

Autoimmune (Chronic) Hepatitis

DEFINITION

Image Hepatic inflammatory process manifested by Image serum aminotransferase and liver-associated autoantibodies.

Image Variable severity.

Image Fifteen to twenty percent of cases associated with HBV.

Image Clinical constellation that suggests immune-mediated disease process responsive to immunosuppressive treatment.

SIGNS AND SYMPTOMS

Image Variable.

Image May mimic acute viral hepatitis.

Image Onset insidious.

Image May be asymptomatic or may have fatigue, malaise, anorexia, or amenorrhea.

Image Extrahepatic signs include arthritis, vasculitis, and nephritis.

Image Mild to moderate jaundice.

DIAGNOSIS

Image Detection of autoantibodies (anti-smooth muscle, anti-liver-kidney-microsome, anti-soluble live antigen).

Image Liver biopsy.

Image Exclude other disease.

TREATMENT

Image Corticosteroid

Image Azathioprine

REYE SYNDROME

DEFINITION

Image Acute encephalopathy and fatty degeneration.

Image Hepatic dysfunction (> 3-fold Image in ALT, AST, and/or ammonia levels).

Image No other explanation for cerebral edema or hepatic abnormality.

Image Image incidence secondary to awareness about association with the use of aspirin during the illness relation to acetylsalicylic acid (ASA) ingestion.

Image Many other “Reye-like” syndromes exist (medium-chain fatty-acid oxidation defect or urea-cycle defects).

SIGNS AND SYMPTOMS

Image Stereotypic, biphasic course.

Image Usually see prodromal illness, upper respiratory infection (URI), influenza, or varicella chickenpox initially, followed by a period of apparent recovery, then see abrupt onset of protracted vomiting 5-7 days after illness onset.

Image May see delirium, combative behavior, and stupor.

Image First neurologic manifestation: Lethargy.

Image Neurologic symptoms including seizures, coma, or death.

Image Slight to moderate liver enlargement.

DIAGNOSIS

Image Based on clinical staging.

Image Liver biopsy may show yellow to white color because of high triglyceride content.

TREATMENT

Image Airway, breathing, circulation (ABC) is the priority.

Image Bedside glucose (provide dextrose to manage hypoglycemia).

Image No specific treatment.

Image Control intracranial pressure (ICP) secondary to cerebral edema.

Image Supportive management depending on clinical stage.

α1-ANTITRYPSIN DEFICIENCY

DEFINITION

Image α1-Antitrypsin is a major protease inhibitor (PI).

Image A small percentage of homozygous patients have neonatal cholestasis, and later in childhood cirrhosis.

Image Present in > 20 codominant alleles; only a few associated with defective PI.

Image PI ZZ usually predisposes to clinical deficiency (< 20% develop neonatal cholestasis).


Image

The most likely clinical manifestation of α1-arantitrypsin deficiency in the newborn is jaundice (neonatal cholestusls).


SIGNS AND SYMPTOMS

Image Variable course.

Image Jaundice, acholic stools, and hepatomegaly in first week of life; jaundice clears by second to fourth month.

Image May have complete resolution, persistent liver disease, or cirrhosis.

Image Older children may present with chronic liver disease.

DIAGNOSIS

Image Determination of α1-antitrypsin phenotype.

Image Confirmed by liver biopsy.

TREATMENT

Image Liver transplant curative.

Image No other effective treatment.

WILSON DISEASE

DEFINITION

Image Autosomal-recessive disease characterized by excessive copper deposition in brain and liver.

Image Worldwide incidence: 1/30,000.

SIGNS AND SYMPTOMS

Image Variable manifestations, including:

Image Asymptomatic in early stages.

Image Jaundice, abdominal pain.

Image Hepatomegaly, subacute/chronic hepatitis or fulminant liver failure.

Image Portal hypertension, ascites, edema, esophageal bleeding.

Image Delayed puberty, amenorrhea, or coagulation defect.

Image Psychosis.

Image Tremors.

Image Kayser-Fleischer rings are greenish-brown rings of pigment seen at the limbus of the cornea, reflecting deposits of copper in Descemet's membrane. They can be seen with the naked eye in patients with blue eyes. In patients with dark eyes, a slit lamp is often needed to identify them. Ninety percent of patients with Wilson disease have Kayser-Fleischer rings.


Image

Consider ordering serum ceruloplasmin for any patient with an unexplained elevation of liver function tests (LFTs).


DIAGNOSIS

Copper indices reveal:

Image Low serum ceruloplasmin.

Image High serum copper level.

Image Liver biopsy for histochemistry and copper quantification.

Image Genetic testing, including siblings.

TREATMENT

Image Disease is always fatal if left untreated.

Image Zinc: Newest Food and Drug Administration (FDA)-approved agent; works by blocking absorption of copper in GI tract.

Image Copper-chelating agents to Image deposition (eg, penicillamine and trientine).

Image Restrict copper intake. Foods high in copper include (Source: Mayo Clinic Diet Manual):

Image Lamb, pork, pheasant, quail, duck, goose, squid, salmon, all organ meats (liver, heart, kidney, brain), all shellfish (oysters, scallops, shrimp, lobster, clams, crab), meat gelatin, soy protein meat substitutes, tofu, all nuts and seeds, dried beans (soybeans, lima beans, baked beans, garbanzo beans, pinto beans), dried peas, and lentils.

Image Soy milk, chocolate milk, cocoa, chocolate.

Image Nectarines, commercially dried fruits (okay if dried at home).

Image Mushrooms, sweet potatoes, vegetable juice cocktail.

Image Barley, bran breads and bran cereals, cereals with > 0.2 mg of copper per serving (check label), millet, soy flour, soy grits, wheat germ, brewer's yeast.

Image Patients with hepatic failure require liver transplant.

HEPATIC NEOPLASMS

Hepatoblastoma

DEFINITION

Image Rare in children.

Image Fewer than 65% of malignant tumors are hepatoblastomas.

Image Associated with Beckwith-Wiedemann syndrome.

Image Usually arises from the right lobe of the liver and is unifocal.

Image Two histologic types—epithelial and mixed.

SIGNS AND SYMPTOMS

Image Generally present in first 18 months of life.

Image Large, asymptomatic abdominal mass.

Image Abdominal distention and Image liver size.

Image Weight loss, anorexia, vomiting, and abdominal pain (as disease progresses).

Image May spread to regional lymph nodes.

DIAGNOSIS

Image α-Fetoprotein (AFP) level helpful as marker.

Image Diagnostic imaging includes ultrasound to detect mass, CT, or magnetic resonance imaging (MRI).

TREATMENT

Image Complete resection of tumor.

Image Cisplatin and doxorubicin adjuvant chemotherapy.

Image More than 90% survival with multimodal treatment (surgery with chemotherapy).

LIVER ABSCESSES

Echinococcus

DEFINITION

Image Most widespread cestode.

Image Transmitted from domestic and wild canine animals.

Image Two species: Echinococcus granulosus and the more malignant Echinococcus multilocularis.

Image Hosts are dogs, wolves, coyotes, and foxes that eat infected viscera.

Image Humans are infected by ingesting contaminated food or water.


Image

Avoid spillage during surgery for Echinococcus—a major complication.


SIGNS AND SYMPTOMS

Image Majority of cysts in liver; most never symptomatic.

Image Early, nonspecific symptoms; later on, Image abdominal girth, hepatomegaly, vomiting, or abdominal pain.

Image Anaphylaxis secondary to rupture and spillage of contents.

Image Second most common site is lungs; symptoms include chest pain and coughing or hemoptysis.

DIAGNOSIS

Image Clinical.

Image Ultrasound.

Image Serologic studies have high false-negative rate.

TREATMENT

Image Surgery.

Image May be CT guided.

Image If not amenable to surgery, may be treated with albendazole.

Amebic Abscess

DEFINITION

A very serious manifestation of disseminated infection.

SIGNS AND SYMPTOMS

Abdominal pain, distention, and liver enlargement with tenderness.

DIAGNOSIS

Image May see slight leukocytosis.

Image Moderate anemia.

Image Image ESR.

Image Nonspecific ALT Image.

Image Stool exam negative in > 50% of patients.

Image CT or MRI.

TREATMENT

Image Metronidazole.

Image Chloroquine.

Image Aspiration of left lobe abscesses if rupture is imminent.



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