THE PEDIATRICS CLERKSHIP - PART 4 potx

Hypochloremic, hypokalemic metabolic alkalosis rare these days dueto earlier diagnosis Palpable pyloric olive-shaped mass in midepigastrium difficult to find DIAGNOSIS Ultrasound 90% s

 Upper GI endoscopy

 Barium meal not sensitive

 Plain x-rays may diagnose perforation of acute ulcers

 Angiography can demonstrate bleeding site

TREATMENT

 Antacids, sucralfate, and misoprostol

 H2blockers and PPIs

 Give prophylaxis for peptic ulcer when child is NPO or is receivingsteroids

 Endoscopic cautery

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

C O L I C

DEFINITION

 Frequent complex of paroxysmal abdominal pain, severe crying

 Usually in infants <3 months old

 Etiology unknown

SIGNS ANDSYMPTOMS

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

 Facial flushing

 Circumoral pallor

 Distended, tense abdomen

 Legs drawn up on abdomen

 Feet often cold

 Temporary relief apparent with passage of feces or flatus

TREATMENT

 No single treatment provides satisfactory relief

 Careful exam is important to rule out other causes

 Passage of flatus or fecal material by aid of enema or suppository maywork

 Improve feeding techniques (burping)

 Avoid over- or underfeeding

P Y L O R I C S T E N O S I S

DEFINITION

 Most common etiology is idiopathic

 Not usually present at birth

 Associated with exogenous administration of erythromycin, eosinophilicgastroenteritis, epidermolysis bullosa, trisomy 18, and Turner’s syndrome

SIGNS ANDSYMPTOMS

 Nonbilious vomiting (projectile or not)

 Usually progressive, after feeding

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

Parents and caretakers of

children with colic are often

very stressed out, putting

the child at risk for child

abuse

 Hypochloremic, hypokalemic metabolic alkalosis (rare these days due

to earlier diagnosis)

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

DIAGNOSIS

 Ultrasound (90% sensitivity)

 Elongated pyloric channel (>14 mm)

 Thickened pyloric wall (>4 mm)

 Radiographic contrast series (Figure 11-3)

SIGNS ANDSYMPTOMS

 Bilious vomiting without abdominal distention (first day of life)

 History of polyhydramnios in 50% of pregnancies

 Down’s syndrome seen in 20–30% of cases

 Associated anomalies include malrotation, esophageal atresia, and

con-genital heart disease

Physical exam shows ahungry infant withprominent peristaltic waves

in the epigastrium Think:

Hypertrophic pyloricstenosis

Typical Scenario

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.)

 Gastric and intestinal:

 Gastric: sudden onset of severe epigastric pain; intractable retchingwith emesis; inability to pass gastric tube

 Intestinal: associated with malrotation (Figure 11-5)

SIGNS ANDSYMPTOMS

 Plain abdominal films: characteristic bird-beak appearance

 May also see air–fluid level without beak

TREATMENT

 Gastric: emergent surgery

 Intestinal: surgery or endoscopy

I N T U S S U S C E P T I O N

DEFINITION

Invagination of one portion of the bowel into itself The proximal portion is

usually drawn into the distal portion by peristalsis

EPIDEMIOLOGY

 Incidence: 1 to 4 in 1,000 live births

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

 Peak incidence: 5 to 12 months

 Age range: 2 months to 5 years

CAUSES

 Most common etiology is idiopathic

 Other causes:

 Viral (enterovirus in summer, rotavirus in winter)

 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:

 Most common site isileocolic (90%)

Intussusception is the mostcommon cause of bowelobstruction in children ages

2 months to 5 years

Intussusception and linkwith rotavirus vaccine led towithdrawal of vaccine fromthe market

FIGURE 11-5. Volvulus 1st AP view done 6 weeks prior to the 2nd 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.)

 Paucity of bowel gas (Figure 11-6)

 Loss of visualization of the tip of liver

 “Target sign”—two concentric circles of fat density

 Not useful for ileoileal intussusceptions

 Requires ingestion of barium, so more invasive than ultrasound

 May note cervix-like mass

 Coiled spring appearance on the evacuation film

 Absence of currant jelly

stool does not exclude

the diagnosis

 Neurologic signs may

delay the diagnosis

Contrast enema for

intussusception can be both

diagnostic and therapeutic

Rule of threes:

 Barium column should

not exceed a height of 3

feet

 No more than 3

attempts

 Only 3 minutes/attempt

 With radiologic reduction: 7–10%

 With surgical reduction: 2–5%

M E C K E L’ S D I V E RT I C U L U M

DEFINITION

Persistence of the omphalomesenteric (vitelline) duct (should disappear by

seventh week of gestation)

SIGNS ANDSYMPTOMS

Usually in first 2 years:

 Intermittent painless rectal bleeding

 Intestinal obstruction

 Diverticulitis

DIAGNOSIS

Meckel’s scan (scintigraphy) has 85% sensitivity and 95% specificity Uptake

can be enhanced with cimetidine, glucagons, or gastrin

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 maymimic acute appendicitisand also act as lead pointfor intussusception

A P P E N D I C I T I S

DEFINITION

 Most common cause for emergent surgery in childhood

 Perforation rates are greatest in youngest children (can’t localize toms)

symp- Occurs secondary to obstruction of lumen of appendix

 Three phases:

1 Luminal obstruction, venous congestion progresses to mucosal

is-chemia, necrosis, and ulceration

2 Bacterial invasion with inflammatory infiltrate through all layers.

3 Necrosis of wall results in perforation and contamination.

SIGNS ANDSYMPTOMS

 Classically: pain, vomiting, and fever

 Initially, pain periumbilical; emesis infrequent

 Anorexia

 Low-grade fever

 Diarrhea infrequent

 Pain radiates to right lower quadrant

 Perforation rate >65% after 48 hours

 Rectal exam may reveal localized mass or tenderness

DIAGNOSIS

 History and physical exam is key to rule out alternatives first

 Pain usually occurs before vomiting, diarrhea, or anorexia

 Labs helpful to rule other diagnosis

 Computed tomographic (CT) scan (Figure 11-8) indicated for patients

in whom diagnosis is equivocal—not a requirement for all patients.

TREATMENT

 Surgery as soon as diagnosis made

 Antibiotics are controversial in nonperforated appendicitis

appen- Broad-spectrum antibiotics needed for cases of perforation (ampicillin,

gentamicin, clindamycin, or metronidazole ×7 days)

 Laparoscopic removal associated with shortened hospital stay

(nonper-forated appendicitis)

C O N S T I PAT I O N

DEFINITION/SIGNS ANDSYMPTOMS

 Passage of bulky or hard stool at infrequent intervals

 During the neonatal period usually caused by Hirschsprung disease,

in-testinal pseudo-obstruction, or hypothyroidism

 Other causes include organic and inorganic (e.g., cow’s milk protein

in-tolerance, drugs)

 May be metabolic (dehydration, hypothyroidism, hypokalemia,

hyper-calcemia, psychiatric)

TREATMENT

 Increase PO fluid and fiber intake

 Stool softeners (e.g., mineral oil)

 Glycerin suppositories

 Cathartics such as senna or docusate

 Nonabsorbable osmotic agents (polyethylene glycol) and milk of

mag-nesia for short periods only if necessary—can cause electrolyte

 Increase in familial incidence

 Occurs in males more than females

 Associated with Down’s syndrome

SIGNS ANDSYMPTOMS

 Delayed passage of meconium at birth

 Increased abdominal distention → decreased blood flow →

deteriora-tion of mucosal barrier →bacterial proliferation →enterocolitis

 Chronic constipation and abdominal distention (older children)

DIAGNOSIS

 Rectal manometry: measures pressure of the anal sphincter

 Rectal suction biopsy: must obtain submucosa to evaluate for ganglionic

to toilet training, the girlhad one bowel movement aday Physical exam isnormal except for thepresence of stool in thesigmoid colon and hardstool on rectal examination

After removing theimpaction, the nextappropriate step inmanagement would be toadminister mineral oil orother stool softener

Typical Scenario

Absence of Meissner’s andAuerbach’s plexus in distalcolon leading to large

bowel obstruction Think:

Hirschsprung’s

I M P E R F O R AT E A N U S

DEFINITION

 Rectum is blind; located 2 cm from perineal skin

 Sacrum and sphincter mechanism well developed

 Prognosis good

TREATMENTSurgery (colostomy in newborn period)

A N A L F I S S U R E

DEFINITIONPainful linear tears in the anal mucosa below the dentate line induced by con-stipation or excessive diarrhea

SIGNS ANDSYMPTOMSPain with defecation, bright red blood on toilet tissue, markedly increasedsphincter tone, extreme pain on digital examination, visible tear upon gentlelateral retraction of anal tissue

DIAGNOSISHistory and physical exam

TREATMENTSitz baths, fiber supplements, increased fluid intake

I N F L A M M AT O RY B O W E L D I S E A S E

DEFINITIONIdiopathic chronic diseases include Crohn’s disease and ulcerative colitis(UC)

EPIDEMIOLOGY

 Common onset in adolescence and young adulthood

 Bimodal pattern in patients 15 to 25 and 50 to 80 years of age

 Genetics: increased concordance with monozygotic twins versus gotic (increased for Crohn’s versus UC)

dizy-SIGNS ANDSYMPTOMS(SEETABLE11–1)

 Crampy abdominal pain

 Extraintestinal manifestations greater in Crohn’s than UC

 Crohn’s: perianal fistula, sclerosing cholangitis, chronic active hepatitis,pyoderma gangrenosum, ankylosing spondylitis

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

TREATMENT

 Crohn’s: corticosteroids, aminosalicylates, methotrexate, azathioprine,cyclosporine, metronidazole (for perianal disease), sitz baths, anti–tumor necrosis factor-α, surgery for complications

 UC: aminosalicylates, oral corticosteroids, colectomy

Imperforate anus is

frequently associated with

Down’s syndrome and

A 14-year-old girl has a

2-month history of crampy

and diffuse abdominal pain

with anorexia and a 4.5-kg

weight loss The pain is

unrelated to meals, and

there is no diarrhea or

constipation Appropriate

initial management would

include all of the following:

rectal exam; stool exam for

ova, cysts, and parasites;

complete blood count (CBC)

and erythrocyte

sedimentation rate (ESR);

review of family emotional

stress, except referral to an

eating disorder clinic

Typical Scenario

I R R I TA B L E B O W E L S Y N D R O M E

DEFINITION

 Abdominal pain associated with intermittent diarrhea and constipation

without organic basis

 Difficult to make, exclude other pathology

 Obtain CBC, ESR, stool occult blood

TREATMENT

 None specific

 Supportive with reinforcement and reassurance

 Address any underlying psychosocial stressors

A C U T E G A S T R O E N T E R I T I S A N D D I A R R H E A

DEFINITION

secondary to disturbed intestinal solute transport Technically limited

to lower GI tract

tract, and thus involves both vomiting and diarrhea

EPIDEMIOLOGY

 Increased susceptibility seen in young age, immunodeficiency, measles,

malnutrition, travel, lack of breast-feeding, and contaminated food or

water

 Most common cause of diarrhea in children is viral—often rotavirus

 Children in developing countries often also get infected by bacterial

and parasitic pathogens

SIGNS ANDSYMPTOMS

 Important to obtain information regarding frequency and volume

Table 11-1 Crohn’s disease versus ulcerative colitis.

Acute diarrhea is usuallycaused by infectious agents,whereas chronic persistentdiarrhea may be secondary

to infectious agents,infection ofimmunocompromised host,

or residual symptoms due

to intestinal damage

 General patient appearance important (well appearing versus lethargic).

 Associated findings include cramps, emesis, malaise, and fever

 May see systemic manifestations, GI tract involvement, or nal infections

extraintesti- Extraintestinal findings include vulvovaginitis, urinary tract infection(UTI), and keratoconjunctivitis

 Systemic manifestations: fever, malaise, and seizures

 Inflammatory diarrhea—fever, severe abdominal pain, tenesmus

 Noninflammatory diarrhea—emesis, fever usually absent, crampy dominal pain, watery diarrhea

ab-DIAGNOSIS

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

 Fecal leukocyte—presence of invasive cytotoxin organisms (Shigella, Salmonella).

 Patients with enterohemorrhagic Entamoeba coli and Entamoeba ica—minimal to no fecal leukocytes.

histolyt- Obtain stool cultures early

 Clostridium difficile toxins—test if recent antibiotic use.

 Proctosigmoidoscopy—diagnosis of inflammatory enteritis

TREATMENT

 Rehydration

 Oral electrolyte solutions (e.g., Pedialyte)

 Oral hydration for all but severely dehydrated (IV hydration)

 Rapid rehydration with replacement of ongoing losses during first 4 to

6 hours

 Do not use soda, fruit juices, jello, or tea High osmolality may bate diarrhea

exacer- Start food with BRAT diet

 Antidiarrheal compounds are not indicated for use in children

 See Table 11-2 for antibiotic treatment of enteropathogens

TABLE 11-2 Antimicrobial treatment for bacterial enteropathogens.

Aeromonas Trimethoprim–sulfamethoxazole Prolonged diarrhea

(TMP-SMZ)

Campylobacter Erythromycin Early in course of illness

Clostridium difficile Metronidazole or vancomycin Moderate to severe

diagnosis

Escherichia coli

Salmonella Ampicillin or chloramphenicol Infants < 3 months,

bacteremia

Shigella TMP-SMZ, ceftriaxone All susceptible organisms

Vibrio cholerae Tetracycline or doxycycline All cases

 Diarrhea and emesis →

noninflammatory

 Diarrhea and fever →

inflammatory process

Diarrhea and tenesmus →

large colon involvement

Diarrhea is a characteristic

finding in children poisoned

with bacterial toxin of

Escherichia coli, Salmonella,

Staphylococcus aureus, and

Vibrio parahemolyticus, but

not Clostridium botulinum.

A 9-month-old infant who

attends day care has a

temperature of 104°F

(40°C) rectally and diarrhea

×2 days The stools are

blood-streaked and contain

mucus WBC count is 23,000

with 40% segmented

neutrophils and 20% band

forms Sixty minutes earlier,

the patient had a brief

generalized seizure Physical

and neurologic exams are

normal Think: Shigella

sonnei.

Typical Scenario

 Hospitalized patients should be placed under contact precautions

(handwashing, gloves, gowns, etc.)

 Education

 Exclude infected children from child care centers

 Report cases of bacterial diarrhea to local health department

 Vaccines for cholera and Salmonella typhi are available.

I N T E S T I N A L W O R M S

See Table 11-3 for common intestinal worm infestations

P S E U D O M E M B R A N O U S C O L I T I S

DEFINITION

 Major cause of nosocomial diarrhea

 Rarely occurs without antecedent antibiotics (usually) penicillins,

cephalosporins, or clindamycin

 Antibiotic disrupts normal bowel flora and predisposes to C difficile

di-arrhea

SIGNS ANDSYMPTOMS

Classically, blood and mucus with fever, cramps, abdominal pain, nausea, and

vomiting days or weeks after antibiotics

DIAGNOSIS

 Recent history of antibiotic use

 Occurs because of imperfect closure of umbilical ring

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

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

of hemolytic uremicsyndrome with treatment

The most frequent symptom

of infestation with

Enterobius vermicularis is

perineal pruritus Candiagnose with transparentadhesive tape to area(worms stick)

BRAT Diet for Diarrhea Bread

Rice Applesauce Toast

DEFINITION

 Most common diagnosis requiring surgery

 10 to 20/1,000 live births (50% <1 year)

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

 Indirect secondary to patent processus vaginalis

 Increased incidence with positive family history

SIGNS ANDSYMPTOMS

 Infant with scrotal/inguinal bulge on straining or crying

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

Enterobius vermicularis Hand to Perianal itching, especially at night Albendazole or

pyrantel pamoate 11 mg/kg (max dose, 1 g

PO × 1)

Trichuris trichuria Fecal–oral  Usually asymptomatic Albendazole or

 Abdominal pain

 Diarrhea, tenesmus

 Perianal itching

Ascaris lumbricoides Fecal–oral  Pneumonia Albendazole or

 Intestinal infection/obstruction

 Liver failure

Necator Americanus Skin  Intense dermatitis Albendazole or

duodenale (old world  GI symptoms

Strongyloides stercoralis Skin Same as for Necator, plus: Ivermectin 200

 Superimposed bacterial sepsis

Trichinella spiralis Infected pork Trichinosis Albendazole 400 mg

 Pneumonia, myocarditis, encephalitis, nephritis, meningitis

Usual albendazole dose is 400 mg PO × 1; usual mebendazole dose is 100 mg PO × 1 for 3 days.

Adapted, with permission, from Stead L BRS Emergency Medicine Lippincott Williams & Wilkins, 2000.

In inguinal hernia, processus

vaginalis herniates through

abdominal wall with

hydrocele into canal

 Contralateral hernia occurs in 30% after unilateral repair.

 Antibiotics only in at-risk children (e.g., congenital heart disease)

 Prognosis excellent (recurrence <1%, complication rate approximately

2%, infection approximately 1%)

 Complications include incarceration

P E U T Z – J E G H E R S S Y N D R O M E

DEFINITION

 Mucosal pigmentation of lips and gums with hamartomas of stomach,

small intestine, and colon

 Rare; low malignant potential

SIGNS ANDSYMPTOMS

 Deeply pigmented freckles on lips and buccal mucosa at birth

 Bleeding and crampy abdominal pain

 Pigmented lesions in ocular fundus

 Intestinal polyps (usually early adulthood) with high malignant potential

FIGURE 11-9. Inguinal hernia (slippage of bowel through inguinal ring) vs hydrocele

(collec-tion of fluid in scrotum adjacent to testes).

HERNIA

HYDROCELE

A 15-year-old girl withspots on her lips has somecrampy abdominal painassociated with bleeding

Think: Peutz–Jeghers

syndrome

Typical Scenario

TREATMENTAggressive surgical removal of polyps.

C A R C I N O I D T U M O R S

DEFINITIONTumors of enterochromaffin cells in intestine—usually appendix

SIGNS ANDSYMPTOMS

 May cause appendicitis

 May cause carcinoid syndrome (increased serotonin, vasomotor bances, or bronchoconstriction) if metastatic to the liver

distur-TREATMENTSurgical excision

FA M I L I A L P O LY P O S I S C O L I

DEFINITION/ETIOLOGY

 Autosomal dominant

 Large number of adenomatous lesions in colon

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

SIGNS ANDSYMPTOMS

 Highly variable

 May see hematochezia, cramps, or diarrhea

 Extracolonic manifestations possible

DIAGNOSIS

 Consider family history (strong)

 Colonoscopy with biopsy (screening annually after 10 years old if tive family history)

posi-TREATMENTSurgical resection of affected colonic mucosa

J U V E N I L E P O LY P O S I S C O L I

DEFINITION

 Most common childhood bowel tumor (3–4% of patients <21 years)

 Characteristically, mucus-filled cystic glands (no adenomatous changes,

no potential for malignancy)

EPIDEMIOLOGYMost commonly between 2 and 10 years; less common after 15 years; rarelybefore 1 year

SIGNS ANDSYMPTOMS

 Bright red painless bleeding with bowel movement

 May be congenital (malrotation, atresia, etc.)

 Most commonly secondary to surgical resection

SIGNS ANDSYMPTOMS

 Malabsorption and diarrhea

 Steatorrhea (fatty stools): voluminous foul smelling stools that float

 Dehydration

 Decreased sodium and potassium

 Acidosis (secondary to loss of bicarbonate)

TREATMENT

 Total parenteral nutrition (TPN)

 Give small feeds orally

 Metronidazole empirically to treat bacterial overgrowth

Celiac Disease

DEFINITION

 Sensitivity to gluten in diet

 Most commonly occurs between 6 months and 2 years

ETIOLOGY

 Factors involved include cereals, genetic predisposition, and

environ-mental factors

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

SIGNS ANDSYMPTOMS

 Antiendomysial and antitissue transglutaminase antibodies

 Biopsy: most reliable test

TREATMENT

 Dietary restriction of gluten

 Corticosteroids used rarely (very ill patients with profound

malnutri-tion, diarrhea, edema, and hypokalemia)

Tropical Sprue

DEFINITION

 Generalized malabsorption associated with diffuse lesions of small bowel

mucosa

 Seen in people who live or have traveled to certain tropical regions—

some Caribbean countries, South America, Africa, or parts of Asia

extremities Think:

Gluten-induced enteropathy

Typical Scenario

SIGNS ANDSYMPTOMS

 Fever, malaise, and watery diarrhea, acutely

 After 1 week, chronic malabsorption and signs of malnutrition ing night blindness, glossitis, stomatitis, cheliosis, muscle wastingDIAGNOSIS

includ-Biopsy shows villous shortening, increased crypt depth, and increased chronicinflammatory cells in lamina propia of small bowel

ETIOLOGY

 Congenital absence reported in few cases

 Usual mechanism relates to developmental pattern of lactase activity

 Autosomal recessive

 Also decreases because of diffuse mucosal disease (can occur post viralgastroenteritis)

SIGNS ANDSYMPTOMS

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

 Explosive watery diarrhea with abdominal distention, borborygmi, andflatulence

 Recurrent, vague abdominal pain

 Episodic mid-abdominal pain (may or may not be related to milk take)

in-TREATMENT

 Eliminate milk from diet

 Oral lactase supplement (Lactaid) or lactose-free milk

 Yogurt (with lactase enzyme producing bacteria tolerable in such tients)

pa-H Y P E R B I L I R U B I N E M I A

Physiology—see chapter on gestation and birth

DEFINITIONElevated serum bilirubin

EPIDEMIOLOGY

 Common and in most cases benign

 If untreated, severe indirect hyperbilirubinemia neurotoxic

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

in-SIGNS ANDSYMPTOMS

 Jaundice at birth or in neonatal period

 May be lethargic and feed poorly

Benign condition caused by missense mutation in transferase gene resulting in

low enzyme levels with unconjugated hyperbilirubinemia

SIGNS ANDSYMPTOMS

 In homozygous infants, will see unconjugated hyperbilirubinemia in first

3 days of life

 Kernicterus common in early neonatal period

 Some treated infants survive childhood without sequelae

 Stools pale yellow

 Persistence of increased levels of indirect bilirubin after first week of life

in absence of hemolysis suggests this syndrome

DIAGNOSIS

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

hemolysis

 Definitive diagnosis made by measuring glucuronyl transferase activity

in liver biopsy specimen

 DNA diagnosis available

TREATMENT

 Maintain serum bilirubin <20 mg/dL for first 2 to 4 weeks of life

 Repeated exchange transfusion

 Autosomal dominant with variable penetrance

 May be caused by homozygous mutation in glucuronyl transferase

 Direct hyperbilirubinemiamay indicate hepatitis,cholestasis, inborn errors

of metabolism, cysticfibrosis or sepsis

 If reticulocyte count,Coombs’, and directbilirubin are normal,then physiologic orpathologic indirecthyperbilirubinemia issuggested

Children with cholestatichepatic disease needreplacement of vitamins A,

D, E, and K (fat soluble)

SIGNS ANDSYMPTOMS

 Unconjugated hyperbilirubinemia in first 3 days of life

 Concentration remains increased after third week of life

 Kernicterus unusual

 Stool normal

 Infants asymptomatic

DIAGNOSIS

 Concentration of bilirubin nearly normal

 Decreased bilirubin after 7- to 10-day treatment with phenobarbitalmay be diagnostic

TREATMENTPhenobarbital for 7 to 10 days

Alagille Syndrome

DEFINITION

 Absence or reduction in number of bile ducts

 Results from progressive destruction of the ductsSIGNS ANDSYMPTOMS

Long-term survival good but may have pruritis, xanthomas, and increasedcholesterol and neurologic complications

 Usually fatal within 6 to 12 months

 Severe generalized hypotonia

 Impaired neurologic function with psychomotor retardation

 Abnormal head and unusual facies

 Absence of peroxisomes in hepatic cells (on biopsy)

 Genetic testing available

Extrahepatic Biliary Atresia

DEFINITION

Distal segmental bile duct obliteration with patent extrahepatic ducts up to

porta hepatis

EPIDEMIOLOGY

 Most common form (85%): obliteration of entire extrahepatic biliary

tree at/above porta

 1/10,000 to 1/15,000 live births

SIGNS ANDSYMPTOMS

 Acholic stools

 Increased incidence of polysplenia syndrome with heterotaxia,

malrota-tion, levocardia, and intra-abdominal vascular anomalies

 Exploratory laparotomy and direct cholangiography to determine

pres-ence and site of obstruction

 Direct drainage—if lesion correctable

 Surgery—if lesion not correctable (liver transplant)

H E PAT I T I S

 Continues to be major problem worldwide

 Six known viruses cause hepatitis as their primary manifestation—A

(HAV), B (HBV), C (HCV), D (HDV), E (HEV), and G (HGV)

 Many others cause hepatitis as part of their clinical spectrum—herpes

simplex virus (HSV), cytomegalovirus (CMV), Epstein–Barr virus

(EBV), rubella, enteroviruses, parvovirus

 HBV is a DNA virus, whereas HAV, HCV, HDV, HEV, and HGV are

RNA viruses

 HAV and HEV are not known to cause chronic illness, but HBV, HCV,

and HDV cause important morbidity and mortality through chronic

in-fection

 HAV causes most cases of hepatitis in children

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

Hepatitis A

DEFINITION

 RNA-containing member of the Picornavirus family

 Found mostly in developing countries

 Causes acute hepatitis only

 More likely symptomatic in children

 Transmission by person-to-person contact; spread by fecal–oral route

 Percutaneous transmission rare, maternal–neonatal not recognized

 Increased risk in child care centers, contaminated food or water, or

travel to endemic areas

 Mean incubation 4 weeks (15–50 days)

SIGNS ANDSYMPTOMS

 Abrupt onset with fever, malaise, nausea, emesis, anorexia, and nal discomfort

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

 DNA virus from the Hepadnaviridae family

 Most important risk factor for infants is perinatal exposure to hepatitis

B surface antigen (HbsAg)-positive mother

SIGNS ANDSYMPTOMS

 Many cases asymptomatic

 Increased ALT prior to lethargy, anorexia, and malaise (6–7 weeks postexposure)

 May be preceded by arthralgias or skin lesions and rashes

 May see extrahepatic conditions, polyarteritis, glomerulonephritis,aplastic anemia

 Jaundice—icteric skin and mucous membranes

 Hepatosplenomegaly and lymphadenopathy commonDIAGNOSIS

 Routine screening requires assay of two serologic markers: HbsAg (allinfected persons, increased when symptomatic) and hepatitis b coreantigen (HbcAg) (present during acute phase, highly infectious state)

 HbsAg fall prior to symptom resolution; IgMAb to HbcAg also requiredbecause it is increased early after infectivity and persist for severalmonths before being replaced by immunoglobulin G (IgG) anti-HbcAg

 HbcAg most valuable; it is present as early as HbsAg and continues to

be present later when HBsAg disappears

 Only anti-HbsAg detected in immunized persons with hepatitis B cine whereas anti-HbsAb and anti-HBcAG seen in persons with re-solved infection

vac-TREATMENT

 No available medical treatment effective in majority of cases

 Interferon-alpha (INF-α) is approved treatment in children

 Liver transplant for patients with end-stage HBV

A 10-year-old boy is

diagnosed with acute

hepatitis A How would you

treat the parents and

siblings who are doing

fine? Think: IV

immunoglobulin

Typical Scenario