1. Common—occurs in 1% of newborns.
2.  Newborn disease is associated with primary maternal infection with 50% chance of infection.
3.  In those affected, only 5% have neurologic deficits.
4.  CMV transmitted intrapartum, through infected blood or through breast milk, is not associated with neurologic deficits.
5.  Clinical features include intrauterine growth retardation (IUGR), low birth weight, petechiae and purpura, jaundice and hepatosplenomegaly, microcephaly, chorioretinitis, and intracranial calcifications.
6.  Late manifestations like learning and hearing deficits can occur in 10% of clinically inapparent infections.

• Causes maternal hypertension and constriction of placental circulation leading to decreased uterine blood flow and fetal hypoxia.
•  Associated with a higher risk of spontaneous abortion, placental abruption, fetal distress, meconium staining, preterm birth, IUGR, and low Apgar scores at birth.

• Associated with intracranial hemorrhage and necrotizing enterocolitis; cardiac, skull, and genitourinary malformations; and increased incidence of sudden infant death syndrome (SIDS).
•  Cocaine withdrawal in an infant causes irritability, increased tremulousness, and poor feeding, as well as increased incidence of learning difficulties and attention and concentration deficits later on.

hydrocephalus, microtia, micrognathia, and aortic arch abnormalities

•  Associated with macrosomia (weight > 4 kg), which can lead to birthrelated injury.
•  Other fetal/neonatal complications include metabolic disorders (hypoglycemia, hypocalcemia, and hypomagnesemia), perinatal asphyxia, respiratory distress syndrome, hyperbilirubinemia, polycythemia and hyperviscosity, and congenital malformations including cardiac, renal, gastrointestinal, neurologic, and skeletal defects.

•  Birth weight less than the tenth percentile for gestational age
• Insult that begins before 28 weeks’ gestational age.
•  Head circumference and height are proportionally small-sized (symmetric).
•  Seen in infants born to mothers with severe vascular disease with hypertension, renal diseases, congenital anomalies, infections, and chromosomal abnormalities.

• birth weight less than the 10th percentile for gestational age
• Occurs with an insult after 28 weeks’ gestational age.
•  Sparing of the head circumference.
•  Can occur with multiple gestation and preeclampsia.

•  Birth weight greater than the 90th percentile for gestational age.
•  Those at risk are infants of diabetic mothers, postmature infants, and those with Beckwith–Wiedemann syndrome.
•  Most LGA infants have large parents and are constitutionally large.
•  Macrosomic infants are those with a birth weight > 4 kg.

•  Area of edema over the presenting portion of the scalp during a vertex delivery.
•  Associated with bruising and petechiae.

•  Caused by bleeding that occurs below the periosteum of the overlying bone (usually the parietal).
•  Associated with skull fractures in 5–10%, most often linear.

•  Involves the lower arm and affects the seventh and eighth cervical and first thoracic nerve roots. The hand is paralyzed and  has an absent grasp reflex, causing a “claw hand” deformity.
•  It is rare to have an isolated Klumpke’s palsy.
•  Is often accompanied by Horner’s syndrome.

•  Erb–Duchenne involves the upper arm and is the most common type.
•  Involves the fifth and sixth cervical roots, and the arm is adducted and internally rotated, but the grasp reflex is intact

•  Principal cause of gram-negative sepsis and meningitis in newborn.
•  Commonly colonize GU and GI tracts.
•  Risk factors include maternal urinary tract infection (UTI) during last month of pregnancy in addition to previously mentioned risk factors.
•  Clinical manifestations include sepsis, meningitis, UTI, pneumonia.
•  Treatment should be based on antibiotic sensitivity data.

•  Important cause of neonatal sepsis.
•  Colonizes GU tract.
•  Clinical manifestations include sepsis and meningitis.
•  Treatment is with penicillin or ampicillin.

• Cutaneous disease:  Involves skin, mouth, and eyes. Vesicular eruptions appear around 7 to 10 days of life, usually on presenting part.
• Encephalitic disease: Occurs at second to third week of life. Clinical signs include lethargy, irritability, poor suck, seizures.  Cutaneous lesions may be absent.
•  Disseminated disease:  Sepsis-like clinical picture (apnea, irritability, hypotonia, hypotension).  Cutaneous lesions may be absent.

• HSV can be isolated in cell culture from skin lesions or nasopharyngeal swabs.  Polymerase chain reaction (PCR) is a sensitive tool for HSV detection.
•  Acyclovir is very effective, course of treatment is often prolonged (21 days) for encephalitic and disseminated forms.

• Acquired during passage through the birth canal of an infected mother.
• Causes conjunctivitis (few days to several days) and pneumonia (between 3 and 19 weeks).
• Diagnosed via culture.
• Give erythromycin orally for 14 days.

• Results from transplacental transfer of Treponema pallidum.
• Intermittent fever, osteitis and osteochondritis, hepatosplenomegaly, lymphadenopathy, persistent rhinitis (“snuffles”), and a maculopapular rash involving the palms and the soles.
•  Late manifestations include a saddle nose deformity, saber shins, frontal bossing, Hutchison teeth and mulberry molars, sensorineural, and Clutton’s joints (painless joint effusions).
• Rapid plasma reagin (RPR) titers and the flourescent treponemal antibody-absorption test (FTA-ABS).
•  Treponemes can also be seen on darkfield microscopy of nasal discharge.
• Penicillin G.

•  Eighty percent of pediatric acquired immune deficiency syndrome (AIDS) results from maternal–fetal vertical transmission.
•  Transmission from infected breast milk can occur.
•  Clinical features in the infant include persistent thrush, lymphadenopathy and hepatosplenomegaly, severe diarrhea, failure to thrive, and recurrent infections.

•  Detection of p24 antigen in peripheral blood, PCR to detect viral nucleic acid in peripheral blood, and enzyme-linked immunosorbent assay (ELISA) for the detection of antibodies.
• Treatment includes nutritional support, Pneumocystis carinii prophylaxis, antiviral therapy, and anti-infective agents for specific infections.

• More common in white females w/ breech presentation, more likely to be unilateral and involve the left hip
• Signs include asymmetry of the skin folds in the groin and shortening of the affected leg
• Evaluation maneuvers include Ortolani and Barlow
• Diagnosis confirmed by ultrasound, treated with Pavlik Harness or sometimes casting

• Meconium is composed of epithelial cells, fetal hair, mucus, and bile
• Intrauterine stress may cause passage of meconium into the amniotic fluid which can cause airway obstruction and a severe inflammatory response, leading to severe respiratory distress known as meconium aspiration syndrome.

• Can be caused by maternal conditions (hypertension), placental insufficiency, severe neonatal blood loss, and overwhelming infection.
•  Neurologic manifestations include hypotonia, coma, and seizures.
• It can result in death, cerebral palsy (CP), and mental retardation.

•  Associated with chromosomal abnormalities, low birth weight, and IUGR.
•  Signs and symptoms include respiratory distress immediately on delivery, tachypnea, poor breath sounds over affected side of chest, and scaphoid abdomen.

•  When an infant’s direct (conjugated) bilirubin is > 3 mg/dL.
•  Most common causes are idiopathic neonatal hepatitis (diagnosis of exclusion) and biliary atresia.

• When an infant’s indirect (unconjugated) serum bilirubin level is > 10 mg/dL.
• Most common cause of neonatal jaundice, seen in up to 50% of neonates.
• Secondary to increased bilirubin load, defective uptake and conjugation, and impaired excretion into bile.
• Physiologic hyperbilirubinemia is seen after the first 24 hours of life, peaks at 3 days, and resolves over 2 weeks.

• Bilirubin neurotoxicity secondary to persistently elevated bilirubin levels, which exceed albumin-binding capacity of the blood resulting in deposition of bilirubin in the basal ganglia.
• Can result in subtle neurologic deficits, hearing loss, profound encephalopathy, and death.

• Treatment is initiated to prevent kernicterus:
• Phototherapy with blue-green light converts bilirubin in skin to nontoxic isomers that are excreted without conjugation.
• Elevated bilirubin levels (12–20 mg/dL) are usually treated with phototherapy.
• Exchange transfusion should be considered at higher levels (20–25 mg/dL).

• Occurs secondary to insufficiency of lung surfactant due to immaturity of surfactant producing type 2 alveolar cells.
•  Ribcage is weak and compliant.
•  High surface tension and propensity for alveolar collapse.
•  Alveolar collapse results in progressive atelectasis, intrapulmonary shunting, hypoxemia, and cyanosis.

•  Seen within the first 3 hours of birth
•  Tachypnea
•  Grunting
•  Cyanosis
• Chest x-ray with fine, diffuse reticulogranular or “ground glass” pattern and air bronchograms

• Aggressive respiratory support, including oxygen, continuous positive airway pressure (CPAP), intubation, and mechanical ventilation.
• To decrease barotrauma, novel methods of ventilation are sometimes used—high-frequency oscillation, jet ventilation, and liquid ventilation.
• Exogenous surfactant replacement (instillation via endotracheal tube) has dramatically reduced mortality in infants with RDS.

•  Need for supplemental oxygen beyond 28 days of life.
•  Characterized by squamous metaplasia and hypertrophy of small airways.
• Etiology: Multifactorial, Lung immaturity, Prolonged mechanical ventilation, Barotrauma (from mechanical ventilation), Oxygen toxicity to the lungs
• Diagnosis via chest x-ray with hyperaeration and atelectasis.
• Treat with supplemental oxygen as needed
•  Oral steroids
•  Bronchodilators

• Seen primarily in premature infants, caused by bowel ischemia and bacterial invasion of intestinal wall.
•  Intolerance of oral feeding (vomiting, bilious aspirates, and large volume residue in stomach)
•  Abdominal distention
•  Temperature instability
•  Respiratory distress
•  Acidosis, sepsis, shock

• DIAGNOSIS
• Distended loops of bowel, abdominal x-ray with “pneumatosis intestinalis”—air bubbles within the bowel wall , Air in portal vein, Free air under diaphragm (in case of perforation), Occult blood in stool
• TREATMENT
•  Discontinue feeds
•  Place nasogastric tube
•  Intravenous fluids
•  Antibiotics
•  Surgery in severe cases

• Caused by proliferation of immature retinal vessels due to excessive use of oxygen. Can lead to retinal detachment and blindness in severe cases.
• DIAGNOSIS
• All very-low-birth-weight infants should be screened for ROP with an ophthalmoscopic exam.
• TREATMENT
• Laser surgery may be needed in severe cases.

• ETIOLOGY
•  Transfer of calcium and phosphorous occurs most rapidly during third trimester (which is most likely to be “missed” by preemies). Vitamin D deficiency.
• SIGNS AND SYMPTOMS
•  Hypotonia
•  Pathologic fractures
•  Craniotabes (occipital flattening)
•  Harrison’s groove (indentation of the ribs at the diaphragmatic level)
•  “Rachitic rosary”(swelling of costochondral junctions)
• DIAGNOSIS
•  Based on x-ray findings:
•  Cupping, fraying of metaphyses
•  Subperiosteal new bone formation, osteopenia
• TREATMENT
•  Vitamin D, Calcium

• By age 2 1⁄2, children should have all of their primary teeth including their second molars.
• Central incisors are first to erupt, between 5 and 8 months.
• Second molars are last to erupt, between 20 and 30 months.
• Secondary (permanent) teeth begin to erupt by age 6 to 7 years

• Head circumference > 3 standard deviations below the mean.
• Genetic diseases (familial, trisomy 21, trisomy 18, cri-du-chat, Prader–Willi syndrome), Prenatal insults (maternal drug use, TORCH infections, maternal phenylketonuria [PKU], decreased placental blood flow), Structural malformation (e.g., lissencephaly)
• A small brain predisposes to cognitive/motor delay and seizures

• Head circumference > 3 standard deviations above the mean.
• Familial in 50% of cases, Hydrocephalus, other causes: Large brain (megalencephaly), cranioskeletal dysplasia, Sotos syndrome

• Reacts to pain 
• Responds to noise  
• Regards human face
• Establishes eye contact

• eyes follow object to midline
• head up prone
• vocalizes
• social smile
• recognizes parent

• eyes follow object past midline
• rolls over
• laughs and squeals
• regards hand

• sits well unsupported
• switches objects between hands
• rolls prone to supine
• babbles

• pincer grasp (10 months)
• crawls
• cruises (walks holding furniture)
• says "mama, dada, bye-bye"
• starts to explore

• walks
• throws object
• 1-3 words
• follows one-step commands
• stranger and separation anxiety

• walks up and down stairs
• copies a line
• runs
• kicks a ball
• 2-3 word phrases
• refers to self by name
• pronouns
• PARALLEL PLAY
• half of speech understood

• copies a circle
• pedals a tricycle
• can build a bridge of 3 cubes
• repeats 3 numbers
• speaks in sentences
• 3/4 speech understood
• recognizes 3 colors
• group play, plays simple games
• knows gender, first and last name

• identifies body parts
• copies a cross
• copies a square (4.5 yrs)
• hops on one foot
• throws overhand
• speech is completely understood by strangers
• uses past tense
• tells a story

• copies a triangle
• catches a ball
• partially dresses self
• writes name
• counts 10 objects

• draws a person with 6 body parts
• ties shoes
• skips with alternating feet
• identifies left and right

•  Breast cancer
•  Cancer chemotherapy
•  Some medications (most are okay; check the label)
•  Herpetic breast lesions
•  Untreated, active tuberculosis
•  Cytomegalovirus (CMV) infection
•  Human immunodeficiency virus (HIV) infection
•  In developing countries where food is scarce and HIV is endemic, the World Health Organization recommends breast-feeding by HIV infected moms because the benefits outweigh the risks.
•  Infant galactosemia

•  Fewer than six wet diapers per day after age 1 week (before that, count one wet diaper per day for first week of life)
•  Continual hunger, crying
•  Continually sleepy, lethargic baby
•  Fewer than seven feeds per day
•  Long intervals between feedings
•  Sleeping through the night without feeding
•  Loss of > 10% of weight
•  Increasing jaundice

• belladonna
• mushrooms
• antihistamines
• tricyclic antidepressants

• organophosphates
• mushrooms
• black widow spider bites
• tobacco

• (HYPERMETABOLIC EFFECTS)
• fever
• tachycardia
• hyperpnea
• restlessness
• convulsions
• metabolic acidosis

•  Spiral fractures of lower extremities in nonambulatory children 
•  Posterior rib fractures (usually caused by squeezing the chest)
•  Fractures of different Ages
•  Metaphyseal “chip” fractures (usually caused by wrenching)
•  Multiple fractures

•  Prominent occiput
•  Low-set ears
•  Small mouth
•  Short sternum
•  Thumb and radius agenesis/hypoplasia
•  Camptodactyly (little finger fixed in flexion)
•  Redundancy of cardiac valve leaflets
•  Hypertonia
•  Seizures

•  Holoprosencephaly (failure of telencephalon to divide into two hemispheres, resulting in large central ventricle; brain assumes configuration of a fluid-filled ball)
•  Microphthalmia
•  Midline facial cleft
•  Polydactyly
•  Scalp cutis aplasia
•  Cystic kidneys
•  Rocker bottom

• Happy, laughing disposition
• stereotyped flapping of hands
•  often blond-haired, blue-eyed
•  Mental retardation
•  Microcephaly
•  Ataxia
•  Hypotonia (ataxia and hypotonia create the characteristic “puppet”-like gait)
•  Epilepsy (80%) 
•  Complete absence of speech
•  Unusual facies characterized by a large mandible and open-mouthed expression revealing tongue
•  Strabismus

• Sporadic or autosomal dominant.
•  Males = Females
• SIGNS AND SYMPTOMS
•  Similar characteristics to Turner’s syndrome:
•  Facies—triangular-shaped face, hypertelorism, down-slanting eyes, ptosis, strabismus, amblyopia, refractive errors, low-set ears with thickened helices, high nasal bridge, short webbed neck 
•  Pectus carinatum/excavatum, scoliosis
•  Cardiac—often pulmonary stenosis, ASD
•  Assorted skeletal abnormalities
•  Skin—lymphedema, prominent pads of digits
•  Neurologic—hypotonia
•  Mental retardation (25%)
•  Delayed sexual maturation, premature ovarian failure; more than half of male patients have undescended testes

• Clefting of lip and anterior (primary) palate due to defect in fusing of both maxillary processes with the frontonasal process during weeks 5 and 6.
•  Clefting of posterior (secondary) palate due to defect in fusion of palatal shelves during weeks 7 and 8.

• Premature rupture of membranes (PROM)
• Intrauterine growth retardation (IUGR)
• Postdates pregnancy
• Renal anomalies (e.g., bilateral renal agenesis, multicystic dysplastic kidneys, posterior urethral valves)
• Other congenital anomalies (e.g., aneuploidy)
• Placental abruption
• Twin–twin transfusion
• Iatrogenic—nonsteroidal prostaglandin synthetase inhibitors, firsttrimester
• chorionic villus sampling, second-trimester amniocentesis; amniotic fluid level may return to normal
• Idiopathic

• specifically refers to bilateral renal agenesis, though other renal anomalies leading to oligohydramnios have also used the eponym. 
• includes pulmonary hypoplasia, skeletal anomalies,
• and characteristic facies (sloping forehead; flattened nose; recessed chin; and lowset, floppy ears). It is incompatible with neonatal life.
• DIAGNOSIS: Amniotic fluid index (AFI)—sum of the maximum vertical pocket of amniotic fluid in each quadrant of the uterus
• TREATMENT: 
• Depends on etiology.
•  First goal is to remove the inciting cause or correct the underlying problem (e.g., discontinue prostaglandin inhibitor, place a shunt).
•  Measures to prepare fetus for possible premature birth (corticosteroids and antibiotics for PROM).
•  Antepartum testing to determine appropriate time for delivery in IUGR.

• deficiency of phenylalanine hydroxylase
• autosomal recessive
• tyrosine becomes essential amino acid
• buildup of PA leads to brain damage, MR, fair hair and skin, blue eyes, eczema, mousy/musty odor
• treatment - limit dietary phenylalanine, increase tyrosine in diet

• Inherited disorder of amino acid metabolism in which homocysteine is present in greater than trace amounts in the urine.
• Most commonly a deficiency of cystathionine synthase, but can also be a defect of methylcobalamin formation or deficiency of methyltetrahydrofolate reductase.
• Homocysteine is not remethylated to methionine

• Depends on particular enzyme deficiency.
• Most commonly normal at birth, with failure to thrive and developmental delay subsequently occurring.
• Later, ectopia lentis, marfanoid body habitus, progressive mental retardation, vaso-occlusive disease, osteoporosis, or fair skin with malar flush can occur.
• DIAGNOSIS
• Normal at birth; diagnosis usually made after 3 years of age
• Elevated methionine and homocystine in body fluids
• Prenatal diagnosis possible
• TREATMENT
• High-dose vitamin B6 (may require concurrent folic acid).
• Restriction of methionine intake and supplementation of cysteine.
• Betaine if unresponsive to B6 therapy.
• Other types may require vitamin B12 or methionine supplementation.

• Inherited disorder of branched-chain amino acid metabolism in which elevated quantities of leucine, isoleucine, valine, and corresponding oxoacids accumulate in the body fluids.
• Deficiency of branched-chain ketoacid dehydrogenase.
• Defect in the decarboxylation of leucine, isoleucine, and valine by a branched-chain ketoacid dehydrogenase.

• Poor feeding, vomiting in first week of life, proceeding to lethargy and coma.
• Alternating hypertonicity and flaccidity, convulsions, hypoglycemia.
• Odor of maple syrup in urine, sweat, cerumen.
• DIAGNOSIS
• Elevated plasma and urine levels if leucine, isoleucine, valine, and alloisoleucine; decreased plasma alanine.
• Urine precipitant test.
• Neuroimaging in the acute state shows cerebral edema.
• TREATMENT
• Chronically, low branched-chain amino acid diet
• Frequent serum level monitoring
• Acutely, intravenous administration of amino acids other than branched chain

• Inherited defect in transport of neutral amino acids by intestinal mucosa and renal tubules.
• ETIOLOGY
• Deficient activity of a sodium-dependent transport system.
• Deficiency of tryptophan results in the clinical manifestations.
• EPIDEMIOLOGY
• Autosomal recessive.
• SIGNS AND SYMPTOMS
•  Usually asymptomatic.
•  Rarely, cutaneous photosensitivity, episodic psychiatric changes.
• DIAGNOSIS
•  Aminoaciduria (neutral: alanine, serine, threonine, valine, leucine, isoleucine, phenylalanine, tyrosine, tryptophan, histidine)
•  Normal plasma amino acid levels
• TREATMENT
• Nicotinic acid/nicotinamide and a high-protein diet in symptomatic patients.

•  Deficiency of beta-galactosidase, accumulation of GM1 ganglioside
• 50% cherry red spot on macula
•  Hepatosplenomegaly
•  Rashes, edema, psychomotor retardation
•  Coarse facial features, skeletal abnormalities
•  Blind and deaf by 1 year, death by 3 to 4 years of age

• Deficiency of hexoseaminidase A, accumulation of GM2 ganglioside in the brain
• diagnosis at 5-6 months, death by 3 years
• cherry red spot on macula
• hyperacusis
• Froglike position
• NO ORGANOMEGALY IN TAY-SACHS

• deficiency of sphingomyelinase, accumulation of sphyingomyelin and cholesterol in reticuloendothelial and parenchymal cells
• 50% cherry red spot on macula
• hepatosplenomegaly
• diagnosis by 4 months, death by 3 years of age
• varying degrees of neurologic deterioration

• deficiency of beta-glucosidase
• accumulation of glucocerebroside in reticuloendothelial system
• affects brain, liver, spleen, BM
• pancytopenia
• bone fractures, pain, avascular necrosis
• Gaucher cells "crinkled paper" cytoplasm
• infantile form - rapid neurologic deterioration
• adult form - more common, normal life span

• deficiency of ceramide trihexosidase or alpha-galactosidase A
• accumulation of glycosphingolipids in vascular endothelium, nerves, and organs
• angiokeratomas
• progressive kidney failure
• neuropathy, vascular disease
• ocular opacities

• deficiency of galactosyl-ceramide, beta-galactosidase, or galactocerebroside
• accumulation of ceramide galactose within lysosome of brain white matter
• progressive CNS degeneration
• optic atrophy, spasticity, early death
• globoid cells in areas of demyelination

• deficiency of ceramidase
• accumulation of ceramide in peripheral organs, joints, lymph nodes
• normal at birth, diagnosis at one year
• nodules on joints, vocal cords (hoarseness)

• alpha-L-iduronidase deficiency
• Severe, progressive, death by 10 years of age
• Mental retardation, heart disease, corneal clouding, organomegaly
• Dystosis multiplex, obstructive airway disease
• Enlarged tongue, hearing loss, limited language

• deficiency of alpha-L-iduronidase
• normal intelligence and life span
• corneal clouding, stiff joints, aortic regurgitation

• deficiency of iduronate sulfatase
• mild to severe, death before 15 years in severe form
• dystosis multiplex, mental retardation, organomegaly
• x-linked recessive

• Inherited disorder of glycogen metabolism characterized by deposition of glycogen in the liver, kidney, and intestine.
• deficiency of glucose-6-phosphatase
• glycogen-to-glucose metabolism stops at G6P
• massive hepatomegaly, hypoglycemia
• Elevated serum levels of lactate, uric acid, cholesterol, triglycerides
• Renal complications (Fanconi’s, nephrocalcinosis, focal segmental glomerulosclerosis)
• DIAGNOSIS
• normal at birth, diagnosed at 5 months
• liver biopsy shows glycogen accumulation in cells
• TREATMENT
• avoid fasting, give frequent high carbohydrate meals

• deposition of glycogen in skeletal muscle.
• Deficiency of muscle glycogen phosphorylase (myophosphorylase).
• SIGNS AND SYMPTOMS
•  Temporary weakness and cramping of skeletal muscles after exercise
•  No rise in blood lactate during ischemic exercise
•  Characteristic “second wind” with initiation of fatty acid metabolism
• DIAGNOSIS
•  Asymptomatic during infancy.
•  Muscle biopsy and assay show deficiency of enzyme.
•  Myoglobinuria, elevated CK after exercise
• TREATMENT
• Dietary modification (high fat and protein); supportive therapy.

• deposition of glycogen in cardiac and skeletal muscle.
• Deficiency of acid α-1,4-glucosidase.
•  Generalized glycogenesis because the defect is in all cells
•  Results in inability to convert mannose to glucose
• Rapid, progressive cardiomyopathy with massive cardiomegaly, macroglossia, hypotonia, hepatomegaly, death by 1 to 2 years
• Juvenile form milder
• Electrocardiogram (ECG), electromyogram (EMG).
• No specific treatment; supportive therapy.

• elevated galactose and metabolite levels in blood and urine
• Cataracts, hepatosplenomegaly, mental retardation
• Demonstrate reducing substance in urine after administration of human or cow’s milk
• exclude excess galactose and lactose from the diet

• deficiency of fructokinase
• enzyme normally found in the liver, kidney, and intestine
• Presence of urinary-reducing substrate without clinical symptoms
• no treatment indicated

• An X-linked disorder of purine metabolism resulting in deposition of purines in tissues and subsequent clinical abnormalities.
• HGPRT deficiency
• Retardation of motor development, spastic cerebral palsy, self-injurious behavior
• Hyperuricemia, uricosuria, urinary tract calculi, nephropathy, tophi, gouty arthritis
• diagnosis made 3 months after birth when delayed motor development apparent
• serum uric acid levels
• allopurinol reduces levels

• large elevations in serum cholesterol (>500)
• tendinous xanthomata
• early MI's
• statins for heterozygotes
• liver transplant for homozygotes
• genetic defect in the LDL receptor

• accumulations of chylomicrons
• low/normal LDL, serum grossly milky
• eruptive xanthomata
• periodic pancreatitis
• NO ATHEROSCLEROTIC DISEASE
• try very lowfat diet
• deficiency of lipoprotein lipase of ALP CII

• absent chylomicrons
• abnormal very low VLDL and LDL
• increased cholesterol and TGs
• planar xanthomata, PVD
• fibric acid derivatives if diet/exercise change ineffective
• abnormal apolipoprotein E

• increased VLDL
• obesity, glucose resistance, insulin resistance
• hyperinsulinemia
• hyperuricemia
• weight/diet control
• overproduction or reduced clearance of VLDL

• Extreme variant of erythema multiforme (EM) with systemic toxicity and involvement of the mucous membranes.
• ETIOLOGY
•  Drugs: sulfonamides and anticonvulsants
•  Mycoplasma pneumoniae
• SIGNS AND SYMPTOMS
•  Classic triad:
•  Conjunctivitis
•  Oral ulceration
•  Urethritis
•  Prodromal phase (1–14 days): Fever, headache, malaise
•  Dermatologic manifestations:
•  Erythematous blistering rash (target lesions)
•  Inflamed bullous lesions
• DIAGNOSIS
• Skin biopsy—perivascular mononuclear cell infiltrate.
• TREATMENT
•  Hospitalization
•  Supportive care

• Abnormalities of both humoral and cellular immunity.
• ETIOLOGY
•  Defect in stem cell maturation
•  Decreased adenosine deaminase
• SIGNS AND SYMPTOMS
•  Presents within first 6 months with diarrhea, pneumonia, otitis, sepsis, failure to thrive, and skin rashes
•  Frequency and severity of infections
•  Persistent infection with opportunistic organisms
• Hypoplastic or absent thymus or lymph nodes
•  Absent thymic shadow
• DIAGNOSIS
•  Lymphopenia
•  Decreased serum IgG, IgA, and IgM
• TREATMENT
•  True pediatric emergency
•  Bone marrow transplantation
• PROGNOSIS
• Death within first 2 years if untreated.

• Acute disseminated form of Langerhans’ cell histiocytosis
• Manifestation of complex immune dysregulation
•  Skeleton involved (80%)—skull, vertebrae
•  Skin (50%)—seborrheic dermatitis
•  Lymphadenopathy (33%)
•  Hepatosplenomegaly (20%)
•  Exophthalmos
•  Pituitary dysfunction—growth retardation, diabetes insipidus
•  Systemic manifestations—fever, weight loss, irritability, failure to thrive
•  Bone marrow involvement—anemia, thrombocytopenia
• LAB
•  Complete blood count (CBC)
•  Liver function tests (LFTs)
•  Coagulation profile
•  Chest x-ray
•  Skeletal survey
•  Urine osmolality
•  Tissue biopsy (skin or bone lesions)
• TREATMENT
•  Single system disease—generally benign
•  Treatment directed at arresting the progression of lesion (low-dose local
• radiation)
•  Multisystem disease
•  Systemic multiagent chemotherapy
•  Spontaneous remission

•  Telangiectasia
•  Ataxia
•  Variable immunodeficiency
•  Autosomal recessive
• ETIOLOGY
• Defective chromosome repair.
• SIGNS AND SYMPTOMS
•  Progressive cerebellar ataxia
•  Usually presents during first 6 years
•  Confined to wheelchair by 10 to 12 years
•  Both humoral and cellular immunodeficiency
•  Oculocutaneous telangiectasias
•  Chronic sinopulmonary infection
•  Increased risk of malignancy
•  Hodgkin’s disease
•  Leukemia
•  Lymphoma
•  Lymphosarcoma
• LAB
• Increased serum α-fetoprotein + carcinoembryonic antigen.
• TREATMENT
•  Supportive therapy
•  Improve pulmonary function
•  Improve immunologic status

• t-cell disorder
•  Superficial candidal infections of mucous membranes, skin, and nails, often associated with endocrinopathy
•  Hypoparathyroidism
•  Hyperthyroidism
•  Polyendocrinopathy

•  Thrombocytopenia, eczema, and increased susceptibility to infection
•  X-linked recessive (classic symptoms occur only in males)
• Inability to form antibody to bacterial capsular polysaccharide antigens.
• SIGNS AND SYMPTOMS
•  Atopic dermatitis/eczema
•  Thrombocytopenic purpura
•  Recurrent infections in infancy
•  Pneumococci
•  Impaired humoral and cell-mediated immunity
•  Excessive bleeding from circumcision site
•  At risk for sepsis and hemorrhage
• LAB
•  Decreased IgM
•  Increased IgA

•  Inherited disorder of hypogammaglobulinemia
•  Infections less severe than SCID
•  Involves the formation of autoantibodies
• SIGNS AND SYMPTOMS
•  Clinically similar to Bruton’s agammaglobulinemia
•  Sprue-like syndrome
•  Thymoma
•  Alopecia areata
•  Achlorhydria
•  Pernicious anemia
•  Lymphoid interstitial pneumonia
•  Pseudolymphoma
•  Noncaseating sarcoid-like granulomas of lungs, spleen, skin, and liver

•  Profound defects in B lymphocytes (both function and number)
•  Severe hypogammaglobulinemia
•  X-linked
• ETIOLOGY
•  Gene defect in Xq22
•  Defective protein tyrosine kinase on B cell
• SIGNS AND SYMPTOMS
•  Increased susceptibility to infections with Streptococcus, Haemophilus influenzae, and echovirus meningoencephalitis 
•  Hypoplasia of tonsils, adenoids, and peripheral lymph nodes
• DIAGNOSIS
•  Very low or absent immunoglobulins
•  Very low or absent mature B lymphocytes

• Most common humoral antibody deficiency.
• SIGNS AND SYMPTOMS
•  Respiratory tract infections
•  Urinary tract infections
•  Gastrointestinal (GI) infections—Giardia
•  Autoimmune diseases
• DIAGNOSIS
•  IgA < 5 mg/dL
•  Normal levels of other immunoglobulin
•  Normal cell-mediated immunity

• Primary disorder of T-cell function.
• Chromosome 22, q11 deletion
• Abnormal development of third and fourth branchial pouches
• Absent T lymphocytes—thymic hypoplasia
• SIGNS AND SYMPTOMS
• Congenital heart disease (atrial septal defect, ventricular septal defect)
•  Right-sided aortic arch
•  Hypocalcemic tetany
•  Esophageal atresia
•  Hypoparathyroidism
• Abnormal facies (short philtrum, hypertelorism, low-set ears)
• TREATMENT
• Thymic tissue transplant.
• Bone marrow transplant—at risk for graft versus host disease (GVHD).
• Use irradiated blood products only.

•  Abnormal neutrophil function
•  Autosomal recessive
• SIGNS AND SYMPTOMS
•  Increased susceptibility to infection of skin and respiratory tract (Staphylococcus aureus, β-hemolytic strep)
•  Mild bleeding diathesis
•  Partial oculocutaneous albinism
•  Progressive peripheral neuropathy
•  Lymphoma-like syndrome
•  Pancytopenia
• DIAGNOSIS
• Large inclusions in all nucleated cells.
• TREATMENT
•  High-dose ascorbic acid
•  Antibiotics for acute infections
•  Bone marrow transplant (does not prevent or cure peripheral neuropathy)

•  Neutrophil dysfunction, defective killing
•  Most common inherited disorder of phagocytosis
• ETIOLOGY
•  Defect in generation of microbial oxygen metabolites
•  Inability to kill catalase-positive microorganisms
• SIGNS & SYMPTOMS
• Severe recurrent infections of skin and lymph nodes
•  Pneumonitis → pneumatocele
•  Osteomyelitis
•  Hepatosplenomegaly
• DIAGNOSIS
•  Leukocytosis
•  Increased erythrocyte sedimentation rate (ESR)
•  Abnormal chest x-ray
•  Hypergammaglobulinemia

•  Neutrophil chemotactic defect
•  Autosomal recessive
• SIGNS AND SYMPTOMS
•  Recurrent staph infections
•  Resistant to therapy
•  Pruritic eczematoid dermatitis
•  Coarse facial features
• DIAGNOSIS
•  Increased IgE (> 10,000 IU/mL)
•  Eosinophilia
• TREATMENT
•  Penicillinase-resistant antibiotics
•  IVIG

• Inadequate immune response to Epstein–Barr virus (EBV).
• EPIDEMIOLOGY
•  Mean age < 5 years
•  X-linked recessive trait
• SIGNS AND SYMPTOMS
•  Healthy until acquire EBV infection
•  High mortality due to extensive liver necrosis

• Acute (5–40 days)
•  Erythroderma
•  Cholestatic hepatitis—abnormal LFTs
•  Enteritis—diarrhea
•  Increased susceptibility to infections

• Chronic (weeks to months—average 100 days)
•  Sjögren’s syndrome—dry eyes and mouth
•  SLE
•  Scleroderma
•  Lichen planus
•  Primary biliary cirrhosis
•  Increased susceptibility to infections
•  Possible lung and GI disorders

•  Presents nonspecifically but progresses rapidly (hours to days).
•  Most progress to septic shock due to large amounts of menigococcal endotoxin.
•  First petechiae, then purpura, and finally ecchymoses (one of the rashes seen on palms and soles).
•  Failure to perfuse distal extremeties.
•  Adrenal hemorrhage (Waterhouse–Friedrichsen syndrome) and insufficiency common.
•  Establish diagnosis by culture of blood, cerebrospinal fluid (CSF), and skin lesions.
•  Intravenous penicillin is treatment of choice.
•  Vaccine available.
• TREATMENT
•  Hospital admission.
•  vancomycin and gentamicin generally first course because broad-based antibiotic is first started prior to knowing antibiotic susceptibility

• SIGNS AND SYMPTOMS
•  Mononucleosis syndrome including fever, lymphadenopathy, and hepatosplenomegaly
•  Disseminated infection—myocarditis, pneumonia, and encephalitis
• DIAGNOSIS
• Serologic antibody tests, biopsy, visualization of parasites in CSF.
• TREATMENT
• Pyrimethamine and sulfadiazine used concurrently (both inhibit folic acid synthesis, so replace folic acid).

•  Primary infection in lungs.
•  Disseminates to brain, meninges, skin, eyes, and skeletal system.
•  Subacute or chronic meningitis is the most common presentation in acquired immune deficiency syndrome (AIDS).
•  Typically presents with fever, headache, and malaise.
•  Postinfectious sequelae common including:  Hydrocephalus, Change in visual acuity, Deafness, Cranial nerve palsies, Seizures,  Ataxia
• DIAGNOSIS
•  Serology: can be detected by latex particle agglutination or enzymelinked immunosorbent assay (ELISA)
•  Microscopy: encapsulated yeast seen as white halos when CSF is mixed with India ink
•  Can be grown in culture (takes up to 3 weeks)
•  May also see cryptococcomas on head CT
• TREATMENT
•  Relapse rate is > 50%. Treat with combination therapy using amphotericin B and flucytosine.

•  Peak incidence 3 to 6 months of age
•  Highest mortality rate under 1 year
• SIGNS AND SYMPTOMS
•  Acute onset of fever, tachypnea, dyspnea, nonproductive cough, and progressive hypoxemia
•  Chest x-ray—interstitial bilateral infiltrates or diffuse alveolar disease, which rapidly progresses
• DIAGNOSIS
• Diagnosis by methenamine silver staining of bronchoalveolar fluid lavage (BAL) to identify cyst walls or Giemsa staining to identify nuclei of trophozoites.
• TREATMENT
•  First-line treatment is trimethoprim–sulfamethoxazole (TMP-SMZ)

• herpesvirus
• Lung, liver, kidney, gastrointestinal (GI) tract, and salivary glands 
• mostly an issue in pregnant women, transplant recipients, and the immunocompromised
• Pneumonitis.
•  Retinitis (can cause blindness).
•  May cause mononucleosis-like symptoms
• For sight or life-threatening infections, intravenous (IV) foscarnet or ganciclovir is used.
•  Transplant recipients are given oral ganciclovir CMV prophylaxis.

• Paramyxovirus (RNA virus).
• SIGNS AND SYMPTOMS
•  High fever.
•  Runny nose.
•  Dry cough.
•  Coryza.
•  Conjunctivitis.
•  Rash starts as faint macules on upper lateral neck, behind ears, along hairline, and on cheeks.
•  Lesions become increasingly maculopapular and spreads quickly to entire face, neck, upper arms, and chest.
•  May have lymphadenopathy or splenomegaly.
•  Koplik spots: irregularly shaped spots with grayish white centers inside
• mouth (pathognomonic)
• TREATMENT
•  Generally supportive
•  Immunoglobulin available

• Parvovirus B19.
• PATHOPHYSIOLOGY
•  Attacks red cell line
•  Transmitted in respiratory secretions
• SIGNS AND SYMPTOMS
•  “Slapped cheek” rash.
•  Rash spreads rapidly to trunk and extremities.
•  Prodrome consisting of low-grade fever, headache, and mild upper respiratory symptoms.
• DIAGNOSIS
•  Clinical
•  Serology for parvovirus B19 available, but not especially useful in acute
• setting
• TREATMENT
• Supportive (antipyretics, increase oral fluid intake, rest).
• COMPLICATIONS
•  Arthropathy
•  Transient aplastic crisis in patients with chronic hemolysis including sickle cell disease, thalassemia, hereditary spherocytosis, and pyruvate kinase deficiency

• Human herpesvirus types 6 and 7.
• SIGNS AND SYMPTOMS
•  High fever.
•  Mild upper respiratory symptoms.
•  Mild cervical lymphadenopathy.
•  Rash consists of discrete small raised lesions on trunk that spreads to the neck, face, and proximal extremities.
• TREATMENT
• Supportive (antipyretics, increase oral fluid intake, rest).

•  Mild fever prodrome for 1 to 2 days.
•  Then mild lymphadenopathy (retroauricular, posterior cervical, and postoccipital).
• Rash begins on face and spreads quickly to trunk. As it spreads to trunk, it clears on face.
•  Rash does not itch.
•  Can also be associated with a mild conjunctivitis.
• COMPLICATIONS
•  Progressive panencephalitis (very rare)
•  Insidious behavior change
•  Deteriorating school performance
•  Later dementia and multifocal neurologic deficits
• TREATMENT
•  Supportive; usually lasts about 3 days
•  Immunoglobulin prophylaxis available
• VACCINE
•  Live-attenuated vaccine included in MMR vaccine
•  Generally given at 12 to 15 months with a booster given at 4 to 6 years

• Paramyxovirus (RNA virus).
• PATHOPHYSIOLOGY
•  Spread via respiratory secretions.
•  Incubation period of 14 to 24 days.
•  Early viremia may account for multiple complications.
• SIGNS AND SYMPTOMS
•  Swelling in one or both parotid glands
•  Rare viral prodrome
• COMPLICATIONS
•  Orchitis and epididymitis
•  Meningoencephalomyelitis (rare)
•  Oophoritis
•  Pancreatitis
•  Thyroiditis
•  Myocarditis
•  Deafness
•  Arthritis
• VACCINE
•  Live-attenuated vaccine included in MMR vaccine
•  Generally given at 12 to 15 months with a booster given at 4 to 6 years.

• Clinical, confirmed by serology.
•  Immunoglobulin M (IgM) titers are elevated in acute disease and peak 3 to 6 weeks after exposure.
•  IgG levels peak when arthritis develops.
•  An elevated IgG titer in absence of an elevated IgM indicates prior exposure as opposed to recent infection.
•  May have false-negative results in first 2 to 4 weeks and false-positive results with other spirochetal infection and in patients with some autoimmune disorders (systemic lupus erythematosus [SLE], rheumatoid arthritis [RA]).
•  Polymerase chain reaction (PCR) can detect spirochete DNA in CSF and synovial fluid. Forty percent of skin biopsies reveal spirochetes.

• Salmonella typhi.
• PATHOPHYSIOLOGY
•  Fecal–oral transmission
•  Incubation period of 7 to 14 days
•  Time of incubation dependent on inoculum size
• SIGNS AND SYMPTOMS
•  Diarrhea later changing to constipation
•  Fever
•  Malaise
•  Anorexia
•  Myalgia
•  Headache
•  Abdominal pain
•  Rose-colored spots on trunk
•  Hepatosplenomegaly
• COMPLICATIONS
•  Intestinal hemorrhage
•  Intestinal perforation
•  Pneumonia caused by superinfection by other organisms
• DIAGNOSIS
•  Culture / PCR
• TREATMENT
• Amoxicillin or TMP-SMZ.

• Coxsackievirus A16.
• SIGNS AND SYMPTOMS
•  Summer and fall seasonal pattern
•  GI discomfort (usually not vomiting)
•  Ulcerative mouth lesions
•  Hand and foot lesions tender and vesicular
•  Hands more commonly involved than feet
•  Usually dorsal surfaces but may occur on palms and soles
• COMPLICATIONS
•  Aseptic meningitis
•  Encephalitis
•  Paralytic disease

•  Rickettsia rickettsii.
•  Transmitted by tick bites.
•  Dogs and rodents are hosts.
•  One-week incubation.
• EPIDEMIOLOGY
•  Endemic to almost every state in the United States.
•  Highest incidence in children aged 5 to 10 years old.
•  Ninety-five percent of cases occur from April through September.
•  Occurs only in the western hemisphere, primarily in southeastern states
• and most often in Oklahoma, North and South Carolina, and Tennessee.
•  Rarely occurs in the Rocky Mountains.
•  Only 60% of patients report a history of a tick bite.
• SIGNS AND SYMPTOMS
•  Sudden onset of high fever, myalgia, severe headache, rigors, nausea, and photophobia within first 2 days of tick bite.
•  Fifty percent develop rash within 3 days. Another 30% develop the rash within 6 days.
•  Rash consists of 2- to 6-mm pink blanchable macules that first appear peripherally on wrists, forearms, ankles, palms, and soles.
•  Within 6 to 18 hours the exanthem spreads centrally to the trunk, proximal extremities, and face (centrifugal).
•  Within 1 to 3 days the macules evolve to deep red papules, and within 2 to 4 days the exanthem is hemorrhagic and no longer blanchable.
•  Up to 15% have no rash.
•  Many patients have exquisite tenderness of the gastrocnemius muscle.

•  Indirect fluorescent antibody (IFA) assay.
•  Titer > 1:64 is diagnostic.
•  Most sensitive and specific test.
•  Biopsy would demonstrate necrotizing vasculitis.
• TREATMENT
•  Tetracycline: 25 to 50 mg/kg/24 hr PO q6h (not in children < 8 years old)
•  Chloramphenicol: 50 to 75 mg/kg/24 hr q6h
• COMPLICATIONS
•  Fulminant infection in glucose-6-phosphate dehydrogenase (G6PD) deficiency
•  Noncardiogenic pulmonary edema
•  Meningoencephalitis
•  Multiorgan damage due to vasculitis

• Acute, multisystemic disease characterized by high fever, hypotension, and erythematous rash.
• Toxins from Staphylococcus spp. function as superantigens activating entire subsets of T cells, resulting in massive release of cytokines, which has profound physiologic consequences (i.e., fever, vasodilation, hypotension, and multisystem organ involvement).
•  Source may be tampon, nasal packing, wound packing, or abscess.
• Check BUN and CPK
• Agressive fluid replacement and eradication of source

•  Usually benign self-limited disease with:
•  Malaise, chills, and fever
•  Chest pain
•  Night sweats and anorexia
•  Fatal disseminated form also occurs, but rare.
• TREATMENT
•  Same as for histoplasmosis below.
•  Surgery for chronic pulmonary coccidioidal disease that is unresponsive to IV azole or amphotericin B therapy
• DIAGNOSIS
•  Tissue culture
•  Coccidioidin skin test
•  May see nodules on chest x-ray
•  Elevated erythrocyte sedimentation rate (ESR), and alkaline phosphatase
•  Marked eosinophilia

•  Ohio and Mississippi River valleys, history of exposure to bird droppings
• Generally asymptomatic, flulike prodrome
•  Hepatosplenomegaly in younger children
• DIAGNOSIS
•  Mediastinal granulomas may be seen on CXR.
•  Elevated liver function tests.
•  Radioimmunoassay for dectection of Histoplasma antigen.
•  Sputum culture yield is variable.
•  Blood cultures negative in acute cases.
• TREATMENT
•  Supportive therapy only for immunocompetent and asymptomatic children.
•  Oral itraconazole for those who fail to improve after 1 month.
•  IV amphotericin B for severe cases.

•  Caused by trematodes (flukes)
•  Schistosoma haematobium: bladder
•  Schistosoma interclatum and Schistosoma mekongi: mesenteric vessels
•  Schistosoma mansoni and Schistosoma japonicum: liver
• PATHOPHYSIOLOGY
• Transmission due to infected water containing immature form, which penetrates the skin.
• SIGNS AND SYMPTOMS
•  Within 3 to 12 weeks: fever, malaise, cough, abdominal pain, and rash (due to worm maturing).
•  Hematuria.
•  Bladder granulomas lead to renal failure and bladder cancer (S. haematobium).
•  Ulceration of intestine and colon, abdominal pain, and bloody diarrhea (S. interclatum and S. mekongi).
•  Hepateosplenomegaly, portal hypertension, ascites, and hematemesis (S. mansoni and S. japonicum).
• DIAGNOSIS
• Eggs in stool or urine.
• TREATMENT
• Praziquantel.

•  The esophagus ends blindly approximately 10 to 12 cm from the nares.
• In 85% of cases the distal esophagus communicates with the posterior trachea (distal tracheoesophageal fistula [TEF]).
• SIGNS AND SYMPTOMS
•  History of maternal polyhydramnios
•  Newborn with increased oral secretions
•  Choking, cyanosis, coughing during feeding (more commonly aspiration of pharyngeal secretions)
•  Esophageal atresia with fistula
•  Aspiration of gastric contents via distal fistula—life threatening (chemical pneumonitis)
•  Tympanitic distended abdomen
•  Esophageal atresia without fistula
•  Recurrent coughing with aspiration pneumonia (delayed diagnosis)
•  Aspiration of pharyngeal secretions common
•  Airless abdomen on abdominal x-ray
• DIAGNOSIS
•  Usually made at delivery
•  Unable to pass nasogastric tube (NGT) into stomach (see coiled NGT on chest x-ray)
•  May also use contrast radiology, videoesophagram, or bronchoscopy
•  Chest x-ray (CXR) demonstrates air in upper esophagus

• Primary—pain, vomiting, and acute and chronic gastrointestinal (GI) blood loss
• First month of life: GI hemorrhage and perforation
• Neonatal–2 months: recurrent vomiting, slow growth, and GI hemorrhage
• Preschool: periumbilical and postprandial pain (with vomiting and
• hemorrhage)
• > 6 years: epigastric abdominal pain, acute/chronic GI blood loss with anemia

•  Frequent complex of paroxysmal abdominal pain, severe crying
•  Usually in infants < 3 months old
•  Etiology unknown
• SIGNS AND SYMPTOMS
•  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.

• most commonly idiopathic
• not usually present at birth, after 3 weeks but late as 5 months
• associated with erythromycin, eosinophilic gastroenteritis, epidermolysis bullosa, trisomy 18, and Turner’s syndrome
• SIGNS AND SYMPTOMS
• Nonbilious vomiting (projectile or not)
• Usually progressive, after feeding
• Hypochloremic, hypokalemic metabolic alkalosis(rare these days due to earlier diagnosis)
• Palpable pyloric olive-shaped mass in midepigastrium
• DIAGNOSIS
•  Ultrasound (90% sensitivity)
•  Elongated pyloric channel (> 14 mm)
•  Thickened pyloric wall (> 4 mm)
•  Radiographic contrast series
•  String sign—from elongated pyloric channel
•  Shoulder sign—bulge of pyloric muscle into the antrum
•  Double tract sign—parallel streaks of barium in the narrow channel
• TREATMENT
• Surgery—pyloromyotomy is curative.

•  Failure to recanalize lumen after solid phase of intestinal development
• SIGNS AND SYMPTOMS
•  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 congenital heart disease.
• DIAGNOSIS
•  Clinical
•  X-ray findings: Double bubble sign
• TREATMENT
•  Initially, nasogastric and orogastric decompression with intravenous (IV) fluid replacement.
•  Treat life-threatening anomalies.
•  Surgery.

• Gastric and intestinal:
• Gastric: sudden onset of severe epigastric pain; intractable retching with emesis; inability to pass gastric tube
•  Intestinal: associated with malrotation
• SIGNS AND SYMPTOMS
•  Vomiting in infancy
•  Emesis
•  Abdominal pain
•  Early satiety
• DIAGNOSIS
•  Plain abdominal films: characteristic bird-beak appearance
•  May also see air–fluid level without beak
• TREATMENT
•  Gastric: emergent surgery
•  Intestinal: surgery or endoscopy

• 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:
•  Meckel’s diverticulum
•  Polyp
•  Lymphoma
•  Henoch–Schönlein purpura
•  Cystic fibrosis
• SIGNS AND SYMPTOMS
• Classic Triad
•  Intermittent colicky abdominal pain
•  Bilious vomiting
•  Currant jelly stool
• Neurologic signs
•  Lethargy
•  Shock-like state
•  Seizure activity
•  Apnea
• Right Upper Quadrant Mass
•  Sausage shaped
•  Ill defined
• Dance’s sign—absence of bowel in right lower quadrant

• DIAGNOSIS
• Abdominal X-Ray
•  Paucity of bowel gas, Loss of visualization of the tip of liver,  “Target sign”—two concentric circles of fat density
• Ultrasound
•  Test of choice, “Target” or “donut” sign—single hypoechoic ring with hyperechoic center, “Pseudokidney” sign- superimposed hypoechoic (edematous walls of bowel) and hyperechoic (areas of compressed mucosa) layers
• Barium Enema
•  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
•  Contraindications:  Peritonitis, Perforation, Profound shock, air Enema
• Often provides the same diagnostic and therapeutic benefit of a barium enema without the barium
• TREATMENT
•  Correct dehydration
•  NG tube for decompression
•  Hydrostatic reduction
•  Barium/air enema
• RECURRENCE
•  With radiologic reduction: 7–10%
•  With surgical reduction: 2–5%

• Persistence of the omphalomesenteric (vitelline) duct (should disappear by seventh week of gestation).
• SIGNS AND SYMPTOMS
• 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.
• TREATMENT
• Surgical: diverticular resection with transverse closure of the enterotomy.

•  Most common cause for emergent surgery in childhood.
•  Perforation rates are greatest in youngest children (can’t localize symptoms).
•  Occurs secondary to obstruction of lumen of appendix.
•  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
•  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 indicated for patients in whom diagnosis is equivocal
• TREATMENT
•  Surgery as soon as diagnosis made.
•  Antibiotics are controversial in nonperforated appendicitis.
•  Broad-spectrum antibiotics needed for cases of perforation (ampicillin, gentamicin, clindamycin, or metronidazole × 7 days).
•  Laparoscopic removal associated with shortened hospital stay (nonperforated appendicitis).

• usually caused by Hirschsprung disease, intestinal pseudo-obstruction, or hypothyroidism

•  Abnormal innervation of bowel (i.e., absence of ganglion cells in bowel)
•  Increase in familial incidence
•  Occurs in males more than females
•  Associated with Down’s syndrome
• SIGNS AND SYMPTOMS
•  Delayed passage of meconium at birth
•  Increased abdominal distention → decreased blood flow → deterioration 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 cells
• TREATMENT
• Surgery is definitive (usually staged procedures).

•  Rectum is blind; located 2 cm from perineal skin
•  Sacrum and sphincter mechanism well developed
•  Prognosis good
• TREATMENT
• Surgery (colostomy in newborn period).

• Painful linear tears in the anal mucosa below the dentate line induced by constipation or excessive diarrhea.
• SIGNS AND SYMPTOMS
• Pain with defecation, bright red blood on toilet tissue, markedly increased sphincter tone, extreme pain on digital examination, visible tear upon gentle lateral retraction of anal tissue.
• DIAGNOSIS
• History and physical exam.
• TREATMENT
• Sitz baths, fiber supplements, increased fluid intake.

• Idiopathic
• Bimodal pattern in patients 15 to 25 and 50 to 80 years of age.
• Genetics: increased concordance with monozygotic twins versus dizygotic (increased for Crohn’s versus UC).

• Transmural involvement, ulcers common, lower cancer risk than UC, fistulas and skip lesions common
• Crampy abdominal pain
• Extraintestinal manifestations greater in Crohn’s than UC
• perianal fistula, sclerosing cholangitis, chronic active hepatitis, pyoderma gangrenosum, ankylosing spondylitis
• TREATMENT
•  Crohn’s: corticosteroids, aminosalicylates, methotrexate, azathioprine, cyclosporine, metronidazole (for perianal disease), sitz baths, anti–tumor necrosis factor-α, surgery for complications

• mucosal involvement only, ileal involvement unusual as are ulcers, skip lesions and fistulas. Rectal bleeding is COMMON.
• Cancer risk increased (as compared to Crohn's)
• Crampy abdominal pain
• bloody diarrhea, anorexia, weight loss, pyoderma gangrenosum, sclerosing cholangitis, marked by flare-ups
• TREATMENT
• aminosalicylates, oral corticosteroids, colectomy

•  Abdominal pain associated with intermittent diarrhea and constipation without organic basis
•  Approximately 10% in adolescents
• SIGNS AND SYMPTOMS
•  Abdominal pain
•  Diarrhea alternating with constipation
• DIAGNOSIS
•  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

•  Rehydration
•  Oral electrolyte solutions (e.g., Pedialyte).
•  Oral hydration for all but severely dehydrated (IV hydration).
•  Do not use soda, fruit juices, jello, or tea. High osmolality may exacerbate diarrhea.
•  Start food with BRAT diet.
•  Antidiarrheal compounds are not indicated for use in children.
•  Appropriate antibiotic treatment of enteropathogens.

• Aeromonas (prolonged diarrhea)
• E. coli (severe or prolonged illness)
• enteropathogenic (nursery epidemics)
• enteroinvasive
• salmonella (infants < 3 months, immundef. pts, bacteremia)
• shigella

•  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 diarrhea.
• SIGNS AND SYMPTOMS
• Classically, blood and mucus with fever, cramps, abdominal pain, nausea, and vomiting days or weeks after antibiotics.
• DIAGNOSIS
•  Recent history of antibiotic use
•  C. difficile toxin in stool of patient with diarrhea
•  Sigmoidoscopy or colonoscopy
• TREATMENT
•  Discontinue antibiotics.
•  Oral metronidazole × 7 to 10 days.

•  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 coughing
•  Omentum or portions of small intestine involved
•  Usually 1 to 5 cm
• TREATMENT
•  Most disappear spontaneously by 1 year of age.
•  Strangulation rare.
•  “Strapping” ineffective.
•  Surgery not indicated unless symptomatic, strangulated, or grows larger after age 1 or 2.

• hand to mouth transmission
• perianal itching, especially at night
• albendazole or mebendazole or pyrantel pamoate 11mg/kg (max. dose 1g PO x 1)

• fecal-oral transmission
• usually asymptomatic
• mild anemia, abdominal pain, diarrhea
• perinanal itching
• treat with albendazole or mebendazole

• fecal-oral transmission
• pneumonia, Loeffler's pneumonitis, intestinal infection/obstruction
• liver failure
• albendazole or mebendazole

• skin penetration transmission
• intense dermatitis, Loeffler's pneumonitis, significant anemia, GI symptoms
• IRREVERSIBLE developmental delay in children
• albendazole or mebendazole

• skin penetration
• intense dermatitis, Loeffler's pneumonitis, significant anemia, GI symptoms
• IRREVERSIBLE developmental delay in children
• Diarrhea 3-6 weeks
• superimposed bacterial sepsis
• Ivermectin 200 μg/kg/day × 2 days

• infected pork
• myalgias, facial and periorbital edema
• conjunctivitis
• pneumonia, myocarditis, encephalitis, nephritis, meningitis
• Albendazole 400 mg PO bid × 14 days +
• prednisone 40–60 mg PO qd

•  Most common diagnosis requiring surgery
•  Indirect > direct (rare) > femoral (even more rare)
•  Indirect secondary to patent processus vaginalis
•  Increased incidence with positive family history
• SIGNS AND SYMPTOMS
•  Infant with scrotal/inguinal bulge on straining or crying.
•  Do careful exam to distinguish from hydrocele
• TREATMENT
•  Surgery (elective).
•  Avoid trusses or supports.

•  Mucosal pigmentation of lips and gums with hamartomas of stomach, small intestine, and colon
•  Rare; low malignant potential
• SIGNS AND SYMPTOMS
•  Deeply pigmented freckles on lips and buccal mucosa at birth
•  Bleeding and crampy abdominal pain
• DIAGNOSIS
• Genetic and family studies may reveal history.
• TREATMENT
• Excise intestinal lesions if significantly symptomatic.

• Multiple intestinal polyps, tumors of soft tissue and bone (especially mandible).
• SIGNS AND SYMPTOMS
•  Dental abnormalities
•  Pigmented lesions in ocular fundus
•  Intestinal polyps (usually early adulthood) with high malignant potential
• DIAGNOSIS
•  Genetic counseling
•  Colon surveillance in at-risk children
• TREATMENT
• Aggressive surgical removal of polyps.

• Tumors of enterochromaffin cells in intestine—usually appendix.
• SIGNS AND SYMPTOMS
•  May cause appendicitis
•  May cause carcinoid syndrome (increased serotonin, vasomotor disturbances, or bronchoconstriction) if metastatic to the liver
• TREATMENT
• Surgical excision.

•  Autosomal dominant
•  Large number of adenomatous lesions in colon
•  Secondary to germ-line mutations in adenopolyposis coli (APC) gene
• SIGNS AND SYMPTOMS
•  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 positive
• family history).
• TREATMENT
• Surgical resection of affected colonic mucosa.

•  Most common childhood bowel tumor (3–4% of patients < 21 years)
•  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
•  Bright red painless bleeding with bowel movement
•  Iron deficiency
• DIAGNOSIS
•  Colonoscopy
•  May use barium enema (not best test)
• TREATMENT
• Surgical removal of polyp.

•  Sensitivity to gluten in diet
•  Most commonly occurs between 6 months and 2 years
• ETIOLOGY
•  Factors involved include cereals, genetic predisposition, and environmental factors.
•  Associated with HLA-B8, -DR7, -DR3, and DQW2.
• SIGNS AND SYMPTOMS
•  Diarrhea
•  Failure to thrive
•  Vomiting
•  Pallor
•  Abdominal distention
•  Large bulky stools
• DIAGNOSIS
•  Antiendomysial and antitissue transglutaminase antibodies
•  Biopsy: most reliable test
• TREATMENT
•  Dietary restriction of gluten
•  Corticosteroids used rarely (very ill patients with profound malnutrition, diarrhea, edema, and hypokalemia)

•  Generalized malabsorption associated with diffuse lesions of small bowel mucosa
•  Seen in people who live or have traveled to certain tropical region
• SIGNS AND SYMPTOMS
•  Fever, malaise, and watery diarrhea, acutely
•  After 1 week, chronic malabsorption and signs of malnutrition including night blindness, glossitis, stomatitis, cheliosis, muscle wasting
• DIAGNOSIS
• Biopsy shows villous shortening, increased crypt depth, and increased chronic inflammatory cells in lamina propia of small bowel.
• TREATMENT
•  Antibiotics × 3 to 4 weeks
•  Folate
•  Vitamin B12
•  Prognosis excellent

• Decreased or absent enzyme that breaks down lactose in the intestinal brush border.
• 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 viral gastroenteritis)
• SIGNS AND SYMPTOMS
•  Seen in response to ingestion of lactose (found in dairy products)
•  Explosive watery diarrhea with abdominal distention, borborygmi, and flatulence
•  Recurrent, vague abdominal pain
•  Episodic mid-abdominal pain (may or may not be related to milk intake)
• TREATMENT
•  Eliminate milk from diet.
•  Oral lactase supplement (Lactaid) or lactose-free milk.
•  Yogurt (with lactase enzyme producing bacteria tolerable in such patients).

• Elevated 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 infants— results from accumulation of unconjugated bilirubin pigment
• SIGNS AND SYMPTOMS
•  Jaundice at birth or in neonatal period
•  May be lethargic and feed poorly
• DIAGNOSIS
•  Direct and indirect bilirubin fractions
•  Hemoglobin
•  Reticulocyte count
•  Blood type
•  Coombs’ test
•  Examine peripheral smear
• TREATMENT
•  Goal is to prevent neurotoxic range.
•  Phototherapy, exchange transfusion.
•  Treat underlying cause.

•  Autosomal recessive, secondary to mutations in glucuronyl transferase gene.
•  Parents of affected children show partial defects but normal serum bilirubin concentration.
• SIGNS AND SYMPTOMS
•  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.
•  Phototherapy.
•  Treat intercurrent infections.
•  Hepatic transplant.

•  Autosomal dominant with variable penetrance
•  May be caused by homozygous mutation in glucuronyl transferase isoform I activity
• SIGNS AND SYMPTOMS
•  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 phenobarbital may be diagnostic.
• TREATMENT
• Phenobarbital for 7 to 10 days.

•  Absence or reduction in number of bile ducts
•  Results from progressive destruction of the ducts
• SIGNS AND SYMPTOMS
•  Variably expressed
•  Unusual facies (broad forehead, wide-set eyes, underdeveloped mandible)
•  Ocular abnormalities
•  Cardiovascular abnormalities (peripheral pulmonic stenosis)
•  Tubulointerstitial nephropathy
•  Vertebral defect
• PROGNOSIS
• Long-term survival good but may have pruritis, xanthomas, and increased cholesterol and neurologic complications.

•  Rare autosomal recessive condition causing progressive degeneration of liver and kidneys
• SIGNS AND SYMPTOMS
•  Usually fatal within 6 to 12 months
•  Severe generalized hypotonia
•  Impaired neurologic function with psychomotor retardation
•  Abnormal head and unusual facies
•  Hepatomegaly
•  Renal cortical cysts
•  Ocular abnormalities
•  Congenital diaphragmatic hernia
• DIAGNOSIS
•  Absence of peroxisomes in hepatic cells (on biopsy)
•  Genetic testing available

• 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
• SIGNS AND SYMPTOMS
•  Acholic stools
•  Increased incidence of polysplenia syndrome with heterotaxia, malrotation, levocardia, and intra-abdominal vascular anomalies
• DIAGNOSIS
•  Ultrasound
•  Hepatobiliary scintigraphy
•  Liver biopsy
• TREATMENT
•  Exploratory laparotomy and direct cholangiography to determine presence and site of obstruction
•  Direct drainage—if lesion correctable
•  Surgery—if lesion not correctable (liver transplant)

• 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
• Mean incubation 4 weeks (15–50 days)
• SIGNS AND SYMPTOMS
•  Abrupt onset with fever, malaise, nausea, emesis, anorexia, and abdominal discomfort.
•  Diarrhea common.
•  May have relapsing course over several months.
•  Jaundice.

• Consider when history of jaundice in family contacts or child care playmates or travel history to endemic region
• Serologic criteria:
• IgM anti-HAV present at onset of illness and disappears within 4 months. May persist for more than 6 months (acute infection). IgG is detectable at this point.
• Increased alanine transaminase (ALT), aspartate transaminase (AST), bilirubin, and gamma-glutamyl transpeptidase (GGT).
• TREATMENT
• Careful handwashing
• Vaccines available (preferred over immunoglobulin in children > 2 years)

• DNA virus from the Hepadnaviridae family.
• Most important risk factor for infants is perinatal exposure to hepatitis
• B surface antigen (HbsAg)-positive mother.
• SIGNS AND SYMPTOMS
• Many cases asymptomatic
• Increased ALT prior to lethargy, anorexia, and malaise (6–7 weeks post exposure)
• 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 common

•  Routine screening requires assay of two serologic markers: HbsAg (all infected persons, increased when symptomatic) and hepatitis b core antigen (HbcAg) (present during acute phase, highly infectious state).
•  HbsAg fall prior to symptom resolution; IgMAb to HbcAg also required because it is increased early after infectivity and persist for several months 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 vaccine whereas anti-HbsAb and anti-HBcAG seen in persons with resolved infection.
• 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.

• Single-stranded RNA virus
• Perinatal transmission described but uncommon except with high-titer HCV
• SIGNS AND SYMPTOMS
• Acute infection similar to other hepatitis viruses.
• Mild and insidious onset.
• Fulminant liver failure rare.
• After 20 to 30 years, 25% progress to cirrhosis, liver failure, or primary hepatocellular carcinoma.
• May see cryoglobulinemia, vasculitides, and peripheral neuropathy (extrahepatic).

• DIAGNOSIS
• Detection of antibodies to HCV or direct testing for RNA virus
• PCR detection possible
• Increased ALT
• Confirmed by liver biopsy
• TREATMENT
• Treat to prevent progression to future complications.
• INF-α-2b for patients with compensated liver disease (response rate long term approximately 25%)
• May use with ribavirin for higher frequency of sustained response

• Smallest known animal virus
• Cannot produce infection without HBV infection (co-infective or superinfection)
• Transmission by intimate contact
• SIGNS AND SYMPTOMS
• Similar to but more severe than other hepatitis viruses
• In co-infection, acute hepatitis more severe, risk of developing chronic hepatitis low; in superinfection, risk of fulminant hepatitis highest
• DIAGNOSIS
• Detect IgM antibody to HDV (2–4 weeks after coinfection, 1 week after superinfection).
• PREVENTION
• No vaccine for hepatitis D, but can minimize against hepatitis B (needs hepatitis B to infect).

• RNA virus with nonenveloped sphere shape with spikes (similar to calciviruses)
• Non-A, non-B hepatitis
• SIGNS AND SYMPTOMS
• Similar to HAV, but more severe
• No chronic illness
• High prevalence of fulminant hepatic failure and death in pregnant women
• DIAGNOSIS
• Antibody to HEV exists
• IgM and IgG assays available
• Can detect viral RNA in stool and serum by PCR
• PREVENTION
• No vaccines available.

•  Hepatic inflammation of unknown etiology.
•  Most result from systemic disease (e.g., sepsis).
•  Also caused by CMV, HSV, human immunodeficiency virus (HIV).
•  Nonviral causes include congenital syphilis and toxoplasmosis.
•  HBV results in asymptomatic infection.
• SIGNS AND SYMPTOMS
•  Jaundice
•  Vomiting
•  Poor feeding
•  Increased liver enzyme levels
•  Fulminant hepatitis
• TREATMENT
•  Antibiotics for bacteria-associated hepatitis
•  Acyclovir for HSV
•  Ganciclovir and foscarnet for CMV

•  Hepatic inflammatory process manifested by increased serum aminotransferase and liver associated autoantibodies
•  Variable severity
•  15–20% of cases associated with HBV
•  Clinical constellation that suggests immune-mediated disease process responsive to immunosuppressive treatment
• SIGNS AND SYMPTOMS
•  Variable.
•  May mimic acute viral hepatitis.
•  Onset insidious.
•  May be asymptomatic or may have fatigue, malaise, anorexia, or amenorrhea.
•  Extrahepatic signs include arthritis, vasculitis, and nephritis.
•  Mild to moderate jaundice.
• DIAGNOSIS
•  Made clinically.
•  Exclude other disease.
• TREATMENT
•  Corticosteroid
•  Azathioprine

• Acute encephalopathy and fatty degeneration
• Decreased incidence secondary to awareness but relation to acetylsalicylic acid (ASA) ingestion.
• Many other “Reye-like” syndromes exist.
• SIGNS AND SYMPTOMS
• Stereotypic, biphasic course
• Usually see prodromal illness, upper respiratory infection (URI), or chickenpox initially, followed by a period of apparent recovery, then see abrupt onset of protracted vomiting 5 to 7 days after illness onset
• May see delirium, combative behavior, and stupor
• Neurologic symptoms including seizures, coma, or death
• Slight to moderate liver enlargement
• DIAGNOSIS
• Liver biopsy may show yellow to white color because of high triglyceride content.
• TREATMENT
•  Control intracranial pressure (ICP) secondary to cerebral edema.

•  α1-Antitrypsin is a major protease inhibitor (PI).
•  A small percentage of homozygous patients have neonatal cholestasis, and later in childhood cirrhosis.
•  Present in > 20 codominant alleles; only a few associated with defective PI.
•  PI ZZ usually predisposes to clinical deficiency (< 20% develop neonatal cholestasis).
• SIGNS AND SYMPTOMS
•  Variable course
•  Jaundice, acholic stools, and hepatomegaly in first week of life; jaundice clears by second to fourth month.
•  May have complete resolution, persistent liver disease, or cirrhosis.
•  Older children may present with chronic liver disease.
• DIAGNOSIS
•  Determination of α1-antitrypsin phenotype
•  Confirmed by liver biopsy
• TREATMENT
•  Liver transplant curative
•  No other effective treatment

• Autosomal recessive disease characterized by excessive copper deposition in brain and liver
• Worldwide incidence: 1/30,000
• SIGNS AND SYMPTOMS
• Asymptomatic in early stages
• Jaundice, abdominal pain
• Hepatomegaly, subacute/chronic hepatitis or fulminant liver failure
• Portal hypertension, ascites, edema, esophageal bleeding
• Delayed puberty, amenorrhea, or coagulation defect
• Psychosis
• Tremors
• 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’s disease have Kayser–Fleischer rings.

• DIAGNOSIS
•  Low serum ceruloplasmin
•  High serum copper level
•  Liver biopsy for histochemistry and copper quantification
•  Genetic testing, including siblings
• TREATMENT
•  Disease is always fatal if left untreated.
•  Zinc: newest Food and Drug Administration (FDA)-approved agent; works by blocking absorption of copper in GI tract.
•  Copper-chelating agents to decrease deposition (e.g., penicillamine and trientine).
•  Restrict copper intake. Foods high in copper include (Source: Mayo Clinic Diet Manual):
•  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.
•  Soy milk, chocolate milk, cocoa, chocolate
•  Nectarines, commercially dried fruits (okay if dried at home)
•  Mushrooms, sweet potatoes, vegetable juice cocktail 
•  Barley, bran breads and bran cereals, cereals with more than 0.2 mg of copper per serving (check label), millet, soy flour, soy grits, wheat germ, brewer’s yeast
•  Patients with hepatic failure require liver transplant.

•  Rare in children
•  Fewer than 65% of malignant tumors are hepatoblastomas.
•  Associated with Beckwith–Wiedemann syndrome.
•  Usually arises from the right lobe of the liver and is unifocal.
•  Two histologic types: epithelial and mixed types.
• SIGNS AND SYMPTOMS
•  Generally present in first 18 months of life
•  Large asymptomatic abdominal mass
•  Abdominal distention and increased liver size
•  Weight loss, anorexia, vomiting, and abdominal pain (as disease progresses)
•  May spread to regional lymph nodes
• DIAGNOSIS
•  α-Fetoprotein (AFP) level helpful as marker.
•  Diagnostic imaging includes ultrasound to detect mass, CT, or magnetic resonance imaging (MRI).
• TREATMENT
•  Complete resection of tumor
•  Cisplatin and doxorubicin adjuvant chemotherapy
•  More than 90% survival with multimodal treatment (surgery with chemotherapy)

•  Most widespread cestode.
•  Transmitted from domestic and wild canine animals.
•  Two species: Echinococcus granulosus and the more malignant Echinococcus multilocularis.
•  Hosts are dogs, wolves, coyotes, and foxes that eat infected viscera.
•  Humans are infected by ingesting contaminated food or water.
• SIGNS AND SYMPTOMS
•  Majority of cysts in liver; most never symptomatic
•  Early, nonspecific symptoms; later on, increased abdominal girth, hepatomegaly, vomiting, or abdominal pain.
•  Anaphylaxis secondary to rupture and spillage of contents.
•  Second most common site is lungs; symptoms include chest pain and coughing or hemoptysis.
• DIAGNOSIS
•  Clinical.
•  Ultrasound.
•  Serologic studies have high false-negative rate.
• TREATMENT
•  Surgery
•  May be CT guided
•  If not amenable to surgery, may be treated with albendazole

• A very serious manifestation of disseminated infection.
• SIGNS AND SYMPTOMS
• Abdominal pain, distention, and liver enlargement with tenderness.
• DIAGNOSIS
•  May see slight leukocytosis
•  Moderate anemia
•  Increased ESR
•  Nonspecific ALT increase
•  Stool exam negative in > 50% of patients
•  CT or MRI
• TREATMENT
•  Metronidazole.
•  Chloroquine.
•  Aspiration of left lobe abscesses if rupture is imminent.

• > 200 viruses—especially rhinoviruses (one third), parainfluenza, respiratory syncytial virus (RSV), adenovirus
• Risk factors: child care facilities, smoking, passive exposure to smoke, low income, crowding, psychological stress
• EPIDEMIOLOGY
•  Most frequent illness of childhood (three to eight episodes per year)
•  Most common medical reason to miss school
•  Occurs in fall and winter especially
• SIGNS AND SYMPTOMS
•  Nasal and throat irritation.
•  Sneezing, nasal congestion, rhinorrhea.
•  Sore throat, postnasal drip.
•  Low-grade fever, headache, malaise, and myalgia.
•  Possible complications include otitis media, sinusitis, and trigger asthma.
•  Infants have a variable presentation—feeding and sleeping are difficult due to congestion, vomiting may occur after coughing, may have diarrhea.

• birth to 6 weeks: 45-60/min
• 6 weeks - 2 years: 40/min
• 2 - 6 years: 30/min
• 6-10 years: 25/min
• > 10 years: 20/min

•  Influenza A and B—epidemic disease
•  Influenza C—sporadic
• EPIDEMIOLOGY
• Common over the winter months.
• SIGNS AND SYMPTOMS
•  Incubation period: 1 to 3 days.
•  Sudden onset of fever, frequently with chills, headache, malaise, diffuse myalgia, and nonproductive cough.
•  Conjunctivitis, pharyngitis.
•  Typical duration of febrile illness is 2 to 4 days.
•  Complications include otitis media, pneumonia, myositis, and myocarditis.

• DIAGNOSIS
•  Nasal swab
•  Atelectasis on chest x-ray (10%)
• TREATMENT
•  Symptomatic treatment is appropriate for healthy children—fluids, rest, acetaminophen.
• VACCINE
•  Now recommended for all children over age 6 months, with priority given to high-risk groups.
•  High-risk groups include children with chronic diseases such as asthma, renal disease, diabetes, and any other form of immunosuppression.
•  Best administered mid-September to mid-November since the peak of the flu season is late December to early March.
•  Antibodies take up to 6 weeks to develop in children. Consider prophylaxis in high-risk children during this period.
•  Since composition of influenza virus changes, the flu vaccine needs to be administered every year.
•  Vaccine is a killed virus and therefore cannot cause the flu.
•  Not approved for children under 6 months of age.

•  Type 1 and 2—seasonal.
•  Type 3—endemic.
• SIGNS AND SYMPTOMS
•  Incubation period 2 to 6 days
•  Colds
•  Pharyngitis
•  Otitis media
•  Croup!!!
•  Bronchiolitis
•  Can be severe in immunocompromised patients
• no specific treatment

S. pneumoniae

H. influenzae type B

Tripod position, thumb sign

Viral (EBV, CMV, etc.)

Group A strep

Sore throat, tonsillar involvement

S. pneumoniae,

Productive cough, lobar consolidation

• Parainfluenza virus types 1 and 2.
• EPIDEMIOLOGY
•  3 months to 3 years of age
•  Fall and winter months
• SIGNS AND SYMPTOMS
•  Inspiratory stridor.
•  Seal-like, barking cough with retractions and nasal flaring.
•  May have coryza and mild fever.
•  Can progress to agitation, hypoxemia, hypercapnia, tachypnea, and tachycardia.
•  Most cases are mild and last 3 to 7 days.
• DIAGNOSIS
•  X-ray only if diagnosis is in doubt.
•  Steeple sign—narrowing of tracheal air column just below the vocal cords
•  Ballooning—distention of hypopharynx during inspiration.
•  Differentiate croup from epiglottitis.
• TREATMENT
•  Mild—outpatient mist therapy
•  Moderate—racemic epinephrine (0.25 mL in 3–5 mL of normal saline [NS]), admit, early corticosteroids

•  Dexamethasone (IM or PO 0.6 mg/kg).
•  Side effects associated with short-term steroid use are minimal.

•  Recurrent, sudden onset of barking cough and inspiratory stridor without preceding respiratory tract infection
•  Well known to physicians but still defies definition of pathogenesis
• ETIOLOGY
•  Probable viral etiology
•  Other considerations—allergic, psychological, gastroesophageal (GE) reflux
• EPIDEMIOLOGY
•  Usually at night
•  Aggravated by excitement
•  Winter months
•  1 to 3 years of age
• SIGNS AND SYMPTOMS
•  Recurrent episodes of acute-onset barking cough and inspiratory stridor
•  No symptoms of infection
• DIAGNOSIS
• Subglottic, noninflammatory edema.
• TREATMENT
•  Reassurance and cool mist
•  Spontaneous recovery

• Acute, life-threatening infection of supraglottic tissues.
• ETIOLOGY
•  Haemophilus influenzae type B
•  Other possible pathogens—Streptococcus pyogenes, Streptococcus pneumoniae, Staphylococcus aureus
• PATHOPHYSIOLOGY
• Acute inflammation and edema of epiglottis, aryepiglottic folds, and arytenoids.
• EPIDEMIOLOGY
•  Decreased incidence due to H. influenzae type B vaccine (HiB)
•  2 to 6 years of age, but can occur at any age
• SIGNS AND SYMPTOMS
•  Sudden onset of inspiratory stridor and respiratory distress.
•  “Hot potato” voice.
•  High fever.
•  Toxic appearing.
•  Tripod position—hyperextended neck, leaning forward, mouth open.
•  Dysphagia, refusal of food.
•  Drooling.
•  Not coughing.
•  Tachycardia is a constant feature.
•  Severe respiratory distress develops within minutes to hours.
•  May progress to restlessness, pallor/cyanosis, coma, death.

• DIAGNOSIS
•  Laryngoscopy—swollen, cherry-red epiglottis
•  Lateral neck x-ray to confirm
•  Swollen epiglottis (thumbprint sign)
•  Thickened aryepiglottic fold
•  Obliteration of vallecula
• TREATMENT
•  True medical emergency—potentially lethal airway obstruction
•  Comfort
•  Anticipate
•  Secure airway (Endotracheal intubation in OR)
•  Ceftriaxone (100 mg/kg/day) 7 to 10 days
•  Rifampin prophylaxis for close contacts