Академический Документы
Профессиональный Документы
Культура Документы
-S1 and S2 should be heard clearly, though S2 splitting may not be appreciated due to the
quick neonatal HR
-murmur may be appreciation during the first few days due to a PDA; typically best
appreciated on the left USB
-palpate brachial and femoral pulses to ensure that they are equal, not brisk, and not
delayed
Lung/chest evaluation
-rhonchi are common after birth due to amniotic fluid that remains in the lungs
-increased RR, grunting, and nasal flaring are signs of respiratory distress and are indications
for a work-up
-respiratory distress is NOT always due to a primarily respiratory cause; sepsis and
congenital heart defects are common disorders that can present with respiratory
distress
-unexplained hoarseness while crying warrants investigation (possible obstruction, paralysis,
infection, etc.)
Abdominal evaluation
-abdomen commonly appears full due to immature musculature
-distension generally indicates a congenital obstruction
-the liver and spleen may be palpable
-umbilical hernias are very common
-become larger with increases in abdominal pressure (e.g., stooling, crying, laughing,
etc.)
-generally resolve without intervention; persistence past age 3-4 may require
surgical repair
-inspection of the umbilical cord
-ensure that three vessels are present two-vessel cords are associated with GI and
renal abnormalities
-the cord stump will eventually fall off in 3-4 weeks; persistence of the cord past 8
weeks is abnormal and may indicate neutrophil dysfunction
Genital evaluation
-females:
-the labia minora and clitoris may appear relatively large
-mucus and blood in the introitus is not abnormal
-skin tags may be present around the vagina and anus
-ambiguous genitalia warrants a work-up (most common cause in females is
congenital adrenal hyperplasia)
-males:
-uncircumcised males typically have a foreskin that is difficult to retract
-common abnormalities:
-hypospadias: urethral opening present on the inferior side of the penis
-chordae: fixed bowing of the penis ventrally due to fibrotic tissue
-retractile testes: testes located in the abdomen that can be massaged into
the scrotum
-cryptorchidism: undescended testes that cannot be palpated in the
abdomen or cannot be moved to the scrotum with palpation (repaired
surgically if the testis does not descend by 1 year)
-inguinal hernia: mass in the groin that increases in size with crying and
straining
-hydrocele: collection of fluid in the scrotum due to persistence of the
processus vaginalis; mass will trans-illuminate and usually resolves by 1 year
Head evaluation
-asymmetry of the head is a common result of vaginal birth (= molding)
-caput succedaneum = marked asymmetry of the head due to edema of soft tissues
-firm but pits to pressure
-associated with vacuum extractions
-cephalohematoma = bleeding into the subperiosteal space; limited by suture lines and
does not cross the midline
-open anterior and posterior fontanels may be present
-a bulging anterior fontanel is usually due to hydrocephalus
-the face is also often asymmetric and may be bruised due to delivery
-abnormal facial features may be syndromic and warrant precise characterization
-newborns are often reluctant to open their eyes due to edema of the lids and environmental
brightness
-assess for symmetry and the presence of a red reflex
-dysconjugate gaze is present during the first 4-6 months
-mild asymmetry of the nose is common due to uterine compression
-neonates are obligate nose breathers
-choanal atresia = blockage of the posterior nasal airway by a membrane or bone
-presents with respiratory distress and cyanosis depending upon the severity
of obstruction look for resolution of cyanosis during crying (the only time
neonates breath through the mouth)
-may be repaired with surgery if obstruction is serve and does not resolve
-perioral cyanosis is normal (as is peripheral cyanosis of the hands and feet)
-discoloration of the lips or tongue is indicative of central cyanosis and warrants
immediate work-up and intervention
-inspect for cleft lip, cleft palate, and bifid uvula
-some abnormalities may be subtle, impairing speech and feeding later in life
-newborn necks are very flexible and relatively short
-torticollis = restriction of neck turning due to unilateral fibrosis of the SCM that
results in muscle shortening
-palpate for masses or cysts
Upper extremity evaluation
-palpate clavicles to evaluate for clavicular fracture during birth
-presence of crepitus does not require XR evaluation unless gross deformities or
abnormal arm movements are appreciated
-incomplete fractures do not require therapy; complete fractures should be
immobilized for proper healing
-movement of the arms and hands should be symmetric and free
-minor flexion contractures of the elbows, knees, and hips are normal
-common abnormalities:
-Erbs palsy (C5-C6 damage) = internally rotated, extended elbow that is
held close to the body with the forearm held in a pronation; hand movements
are not affected
-Klumpkes paralysis (C7-T1 damage) = weak hand muscles with possible
absence of the grasp reflex
-both of these usually resolve without intervention within 48 hours
-persistent lesions usually see gradual improvements over the next 6-18
months
Lower extremity evaluation
-creases along the thighs and buttocks should be symmetric; asymmetry warrants
investigation for possible hip dysplasia
-the feet should be examined for gross abnormalities (e.g., curving of the forefoot, clubbing)
Back evaluation
-inspect for dimples, hair tufts, and hemangiomas, which may be associated with underlying
spinal cord defects
-small dimples within 2.5 cm of the anal verge are common and generally benign
-if abnormalities are present, imaging with MRI to evaluate for possible spinal cord lesions is
appropriate
Neurologic evaluation
-neonates should have good tone, be arousable from sleep, and be calmed with sucking or
feeding
-multiple beats of ankle clonus is not abnormal
-the specific newborn reflexes are discussed elsewhere
Before the Delivery: Prenatal Conditions
Abnormalities in amniotic fluid volume
-polyhydramnios = excessive amniotic fluid
-most commonly due to impaired fetal swallowing
-other common possibilities: multiple fetuses, hydrops fetalis, and gestational
diabetes
-oligohydramnios = reduced amniotic fluid
-most commonly due to renal disease (specifically, bilateral renal agenesis -> Potter
syndrome)
-usually results in death during the fetal period due to respiratory
insufficiency
-complications include restriction of fetal movement, inability to expand lungs, and
reduced placental blood flow (in severe cases)
-common congenital/perinatal infections:
Perinatal Infections
Infection Transmis
Presentati Diagno Treatm
Complicat Prevent
sion
on
sis
ent
ions
ion
CMV
During
Usually
CMV
Supporti
Most
Antibody
gestation; asymptomat detecte
ve care;
common
testing
maternal
ic;
d in
gancyclo
infectious
before or
fluids
microcephal
neonat
vir trials
cause of
during
(e.g., milk) y, blueberry al urine currently sensorineu
pregnan
muffin
in
ral hearing
cy
spots,
progress
loss
jaundice,
HSM,
periventricul
ar
calcification
s,
chorioretiniti
s
HSV
Exposure
Mucocutane
Viral
Acyclovir Disseminat
Delivery
during
ous (skin,
culture;
ed disease
by C
vaginal
eye, mouth)
PCR
has high
section if
delivery;
lesions,
mortality
vaginal
most
encephalitis,
(50%);
lesions
mothers
systemic
encephaliti
are
are
disease
s can result
present
asymptom
in
atic
permanent
neurologic
al damage
Parvovirus
Vertical
Hydrops
Matern
Blood
None if
n/a
fetalis
al Ig
transfusi
fetus
levels
ons,
survives
supporti
initial
ve care
infection
HIV
Vertical
Generally
PCR
HAART
Antibody
(more
asymptomat
testing
likely with
ic; may
to
high viral
counts);
maternal
fluids
present with
general
systemic
signs and
signs of
immunodefi
ciency
(opportunisti
c/ recurrent
infections)
docume
nt
infection
; ZDV
througho
ut
pregnan
cy and
to the
infant for
6 weeks
decrease
s
transmis
sion to
<2%;
Vaccinati
on prior
to
pregnan
cy,
acyclovir
for the
mother if
infection
develops
during
pregnan
cy
Docume
nted
immunit
y prior to
becomin
g
pregnant
VZV
Any time
during
pregnancy
IUGR, limb
atrophy,
ocular
abnormalitie
s, varicella
lesions,
hepatitis
Clinical;
can use
IF for
definiti
ve
diagnos
is
Acyclovir
Early
death;
otherwise
none
Rubella
Any time
during
pregnancy
, but
infections
are worse
during
first 20
weeks
Antibod
y titers
None
Hearing
impairment
,
glaucoma,
and mental
retardation
Syphilis
Transplace
ntal
transmissi
on of
spirochete
s
Neurosyphi
lis
(untreated)
, deafness
Regular
testing,
treatmen
t of
maternal
infection
Any time
during
pregnancy
; rates are
lower with
Testing
in all
infants
with
infecte
d
mother
s
Antibod
y
testing
Penicillin
G
Toxoplasm
osis
Fetal
demise,
premature
delivery, or
any of the
following:
cataracts,
sensorineur
al hearing
loss, cardiac
defects,
developmen
tal delay
Fetal
demise,
premature
delivery,
HSM,
skeletal
abnormalitie
s
Intracranial
calcification
s,
chorioretiniti
s, jaundice,
Multidru
g
therapy
Blindness,
developme
ntal delay
Keep
cats
indoors
and
change
earlier
infections,
but
disease is
more
severe
with early
infection
HSM
litter
frequentl
y; avoid
eating
underco
oked
meats
and
exposure
to soil
Risks
Mental retardation,
impaired linear
growth,
sensorineural
hearing loss,
strabismus,
developmental
delay,
learning/behavioral
disorders
SIDS, subtle
attention/concentra
tion abnormalities
None
Developmental
delay, behavioral
problems
Above
SIDS,
developmental
delay, asthma,
demise
otitis media
In the Delivery Room
Apgar scores
-measures HR, respiratory effort, color, muscle tone, and reflex irritability
-calculated at 1 minute (assesses intrauterine environment and response to delivery) and 5
minutes (assesses response to external environment
-score may also be calculated at 10 minutes if 5 minute score is low
-the longer a low score is present the more likely permanent hypoxic injury and neurologic
damage will be present
Meconium-stained amniotic fluid
-passage of meconium prior to 37 weeks is unusual
-meconium staining of the amniotic fluid is relatively common and is associated with fetal
stress
-infants that have a good cry and are otherwise normal should undergo oral suctioning with
a bulb syringe
-an infant that appears abnormal should undergo oropharyngeal and tracheal suction via
intubation
Distress in the Newborn
-serious illness in the newborn most commonly presents with respiratory distress
-while diagnostic procedures are important, emphasis should be placed on immediate
medical intervention and stabilization (if appropriate)
Meconium aspiration syndrome (MAS)
-defined as delivery through meconium-stained amniotic fluid in a neonate with respiratory
distress and typical CXR findings
-only 5% of infants delivered in meconium-stained amniotic fluid develop MAS
-meconium inactivates pulmonary surfactant, often precipitating respiratory support for the
neonate to variable degrees (mild oxygen supplementation to intubation)
-ABG demonstrates significant hypoxemia and hypercarbia
-CXR demonstrates patchy atelectasis and coarse, irregular densities with hyperinflation
-treatment consists of adequate oxygenation to prevent hypoxemia to minimize respiratory
distress
Respiratory distress syndrome (= hyaline membrane disease)
-due to surfactant deficiency, causing poor lung compliance, progressive atelectasis,
shunting, and hypoxemia
-generally considered to be a disease of prematurity as surfactant usually matures by 34
weeks
-usually presents with typical findings of respiratory distress: tachycardia, nasal flaring,
retractions, and cyanosis within the first few hours of life
-CXR demonstrates reticulonodular/ground-glass infiltrates and diffuse atelectasis
-typical course consists of worsening over the first 24-48 hours followed by gradual
improvement as the epithelium regenerates and begins producing surfactant
-treatment: perinatal steroid administration (if preterm delivery is foreseen), oxygen
supplementation, and surfactant administration
-long-term complications include BPD
Transient tachypnea of the newborn
-due to disruption of normal resorption of fetal lung fluid
-respiratory distress is usually short-lived and resolves within a few hours or days without
intervention
-essentially a diagnosis of exclusion evaluate for life-threatening, cardiac, pulmonary, and
infectious causes
-CXR demonstrates diffuse fluid in interlobar areas with perihilar streaking
-treatment is oxygen supplementation as needed
Neonatal pneumonia
-most common neonatal infection
-most common agents are bacterial: GBS, E. coli, and Klebsiella
-establishing autonomy
-embarking on and desiring achievement
-developing personal and sexual relationships
-cognitive transition from concrete thinking to more abstraction
-because of the increased incidence of high-risk behavior and otherwise modifiable risk
factors, regular contact with a physician during adolescence is critical
-most of the clinical visit with adolescents should be in the absence of the parent(s)
-most states have privacy exceptions with respect to sexual activity and substance
use/abuse
-never withhold emergent treatment in favor of obtaining parental approval
-universal exceptions to confidentiality include plans for self-harm and mandated
reporting of abuse
-basic male development: testicular enlargement -> pubic hair -> penis lengthening
-> maximal height velocity
-basic female development: thelarche (breast budding) -> pubarche -> maximal height
velocity -> menarche
-for sexually active teens, regular screening for gonorrhea, chlamydia, HIV, and syphilis are
appropriate
-regular pap smears are recommended starting at age 21 or at the onset of sexual activity
-hearing screen, H&H, and lipid panel at least once during adolescence are recommended
-vision checks every 3 years are also recommended
Eating Disorders
-desire to be accepted by peers leads to a preoccupation with physical appearance during
adolescence
-two common eating disorders:
-anorexia nervosa: inability to maintain at least 85% of healthy height/weight for
age
-may present with constipation, syncope, upper/lower GI discomfort
-secondary amenorrhea may present in girls that have started their period
and is a diagnostic criterion
-usually present severely underweight (BMI < 17)
-vital signs generally demonstrate hypothermia, bradycardia, and orthostatic
hypotension
-cardiac murmurs consistent with MVP are common in adults with eating
disorders
-bulimia nervosa: binge eating followed by some kind of compensatory mechanism
to rid the body of excess calories; to be diagnosed, must have at least 2 episodes
weekly for 2 months
-in general, eating disorders are much more prevalent in women than men (9:1)
-the diagnosis is clinical no specific testing is indicated unless there is concern for more
serious, organic causes for weightloss
-treatment is multidisciplinary: nutrition support, behavioral therapy, psychotherapy, and
correction of medical complications are the main objectives
-medical intervention is currently being investigated
-full recovery can take years
Substance Use and Abuse
-drug use = intentional ingestion of exogenous compounds that results in physical,
psychological, cognitive, or mood changes
-drug abuse = functional impairment directly or indirectly due to drug use
-see below for chart of commonly used substances and their effects/complications
Violence in the Adolescent Population
-traumatic injury is the leading cause of death among teens
-strongest risk factor for attempted suicide: prior attempt(s)
-living in a home with firearms increases the risk of successful suicide 10-fold
Chapter 4 Nutrition
-certain diets predispose to certain nutritional deficits and warrant careful surveillance
-vegan diets: vitamin B12 and D deficiencies
-vegan and lacto-ovo vegetarians: iron deficiency
-trends on a growth chart are key to monitoring appropriate growth and development
-general growth trends: double in weight by 4-5 months and triple in weight by 1 year
-height doubles by age 3-4 and triples by age 13
Infant Feeding Issues
-breastfeeding is almost ALWAYS preferred over formula
-newborns feed on demand (usually every 1-2 hrs) and regulate caloric intake effectively
-when introducing foods, introduce one at a time to monitor for allergies or other adverse
reactions
-whole fat cows milk should be introduced at 1 year and continued until 2 years; at that
point, switching to a lower fat content milk should occur
-infants should not bed fed milk without supervision due to risk of developing milk-bottle
cavities and tooth decay
Breastfeeding
-AAP recommends exclusive breastfeeding through 6 months and continuation of
breastfeeding with other dietary intake through 12 months
-breastfed infants have lower incidence of infections (2/2 passive immunization from IgA in
maternal milk), allergy-based disorders, and feeding intolerance
-due to poor vitamin D levels in breast milk, vitamin D supplementation should begin within
1 week of life
-contraindications to breastfeeding: maternal HIV infection, untreated/active TB, illegal drug
use, and maternal use of some drugs (antithyroid agents, Li, INH, and most chemo agents)
Infant feeding intolerance
-may present in a variety of ways, but most commonly presents with malabsorption, allergy,
or colitis
-other nonspecific symptoms include vomiting, irritability, and abdominal distension
-the most common cause of feeding intolerance is colic (= recurrent irritability that persists
for several hours, generally in the PM, with inconsolable crying that begins and ends
abruptly)
-exclusive breastfeeding if the child is formula-fed as allergies are a common cause of
feeding intolerance
-if no other organic cause is found, use of formula with hydrolyzed protein to minimize
possible milk/soy allergy is recommended
Failure to thrive
-defined as persistent weight below the 3rd percentile OR falling from an established growth
curve
-jumps/falls in the growth curve are not uncommon during the first 9-18 months; at this
point, growth is more strongly determined by genetic factors rather than nutritional status
-breastfed infants especially may fall slightly when switching over to non-breast milk
nutrition
-associated with developmental delay, especially if growth failure occurs during the first year
(i.e., during period of rapid brain development)
-in developed countries, most causes are functional rather than organic
-organic causes very seldom present with isolated failure to thrive
-detailed diet history, including feeding schedule and content, is critical to diagnosis
-information about urination and stooling is also important
-psychosocial concerns should be investigated (e.g., inability to acquire formula) in addition
to travel/exposure history
-on exam, be observant of abnormal interactions with the child strongly suggests
psychosocial involvement
-evaluation should include a CBC (anemia evaluation) and BMP to ensure adequate
electrolyte levels
Obesity
-Na levels must be corrected in the context of glucose: add 1.6 mEq to serum Na for every
100 mg/dL rise in blood glucose above 100 mg/dL
-treatment: fluid replacement as above
-Na correction should occur at a rate of 1-2 mEq/hr to prevent fluid shifts unless the
patient is unstable
Hypernatremia
-rare in a setting other than dehydration
-treated with NS until normal Na level is achieved (correct at a rate of 1-2 mEq/hr)
Hyperkalemia
-common causes in children: acidosis, severe dehydration, K-sparing diuretic use, excessive
parenteral infusion, renal failure
-other more serious causes: crush injury with rhabdomyolysis (K released from myocytes), Bblocker/digitalis ingestion, excessive K supplementation, RTA, and corticosteroid deficiency
-presents early with paresthesias and weakness; later findings are cardiac in nature,
including peaked T waves and widened QRS complexes
-treatment: calcium gluconate, which stabilizes the cell membrane, and sodium bicarb or
insulin/glucose, which drive K into the cell
-hyperventilation also promotes transcellular K shifts due to H/K transporters
involved with CO2 buffering
Hypokalemia
-usually in the setting of alkalosis 2/2 vomiting, DKA, or excessive use of loop diuretics
-presents with weakness, tetany, constipation (all due to altered membrane dynamics),
polyuria, and polydipsia
-ECG may demonstrate QT prolongation and T wave flattening
-treatment: K replenishment, either orally (preferred) or IV (infusion can be painful)
Calcium and magnesium homeostasis
-hypomagnesemia is generally due to dietary deficiency or renal losses
-hypocalcemia and/or hypokalemia are generally precipitated by hypomagnesemia (and may
present with their associated symptoms)
-magnesium is efficiently excreted by the kidneys, so hypermagnesemia is generally not a
problem in the absence of extreme intake or maternal Mg therapy (e.g., due to eclampsia)
-treatment for hypermagnesemia: IV calcium (acts as a competitive divalent cation) or, in
severe cases, dialysis
Metabolic acidosis
-defined as pH < 7.35
-due to the loss of bicarb or addition of excess H+
-important diagnostic differentiation: gap vs. non-gap (i.e., is [Na+] ([Cl-] + [bicarb])
greater than 12 or less than 12)
-respiratory compensation begins immediately
-to determine appropriate compensation: PaCO2 should be 1.5[bicarb] +/- 8
-treatment: correction of underlying disorder
-infusion of bicarb should only occur in serious acidosis
Metabolic alkalosis
-defined as pH > 7.45
-contraction alkalosis occurs in the setting of fluid loss 2/2 elevated H+/Cl-usually due to vomiting or chronic diuretic use
-therapy is volume expansion and correction of electrolyte abnormalities, if present
Respiratory acidosis and alkalosis
-important: CO2 is equivalent to acid for the purposes of considering acidosis/alkalosis
-with this in mind, acidosis is due to retention of CO2 2/2 inability to exhale; causes include
anything that can produce respiratory insufficiency
-alkalosis is due to excessive blow off of CO2; causes include hypoxia, restrictive lung
disease, medications, and central hyperventilation
-in both cases, treatment is directed at correcting the underlying cause, if possible
Chapter 6 Dermatology
-may also present with shock following ductus closure if systemic outflow tract abnormalities
are present
-treatment: start PGE1 to maintain ductus, surgical repair
Tetralogy of Fallot
-most common congenital heart disease
-associated with 22q11 deletions
-consists of four independent lesions:
1) VSD
2) RVH
3) pulmonary stenosis (2/2 RVH)
4) overriding aorta (partially obstructs the VSD)
-usually presents with cyanosis due to right-to-left VSD (2/2 pulmonary stenosis)
-PDA provides a compensatory left-to-right shunt
-hallmark presentation: tet spells that consist of cyanosis, rapid/deep breathing, and
agitation
-due to transient increases in right-to-left shunts due to RV outflow tract obstruction
-compensated by increasing SVR or preload (squat down, vagal maneuvers) which
reverses the shunt
-classic finding on CXR: boot-shaped heart
-25% of TOFs are associated with a right-sided aortic arch
-treatment: volume expansion and vasoconstrictors for cyanotic spells, eventual surgical
repair
Ebsteins Anomaly
-displacement of the septal leaflet of the TV into the RV, resulting in a merging of the RA and
RV
-produces hypoplasia of the RV along with TR; serious cases of TR require a PDA for a
compensatory left-to-right shunt
-RA is massively dilated due to ineffective pumping leading to supraventricular tachycardias
(SVTs)
-associated with maternal Li use
-CXR demonstrates marked cardiomegaly and reduced vascular markings
-initial treatment is PGE1 infusion to maintain PDA (provides pulmonary flow via fully
functional LV)
-surgery is AVOIDED due to poor results with TV modification
Ductal-Dependent Systemic Blood Flow Lesions
Hypoplastic left heart syndrome (HLHS)
-combination of abnormal findings:
1) hypoplastic LV
2) AV stenosis or atresia
3) MV stenosis or atresia
4) hypoplastic ascending aorta
-results in severely reduced systemic output; an ASD allows for flow from LH to RH, and a
patent PDA provides for adequate systemic output
-presents with severe shock when PDA begins to close
-treatment: PGE1 to maintain PDA followed by palliative surgery (no corrective procedures
available)
Interrupted aortic arch
-extreme form of coarctation of the aorta associated with 22q11 deletions that presents with
one of three types (in distal -> proximal order):
-type A: interruption distal to the subclavian
-type B: interruption between the l. subclavian and l. common carotid
-type C: interruption between the brachiocephalic and l. common carotid
-systemic flow is dependent upon a PDA depending upon the degree of interruption
-presents similarly to HLHS above and is treated similarly (PGE infusion to maintain PDA
followed by surgical correction)
-physical exam findings: continuous murmur that peaks at S2 and bounding pulses (due to
increased LVEDV)
-cyanosis results if PVR increases 2/2 increased flow through the pulmonary vasculature
(results in right -> left shunting)
-treatment: indomethacin (lowers PGE levels, promoting closure; risk of renal insufficiency
with treatment)
-PDAs usually close by the first month but can be treated with embolization or device closure
if it remains patent
Coarctation of the aorta
-male predominance (2:1)
-strongly associated with Turners syndrome (45XO) in females
-obstruction usually of the descending aorta at the side of DA insertion, increasing LV
afterload
-infants with severe lesions are PDA-dependent and may present with shock if PDA is closed
-smaller lesions may be asymptomatic
-physical findings: reduced or absent LE pulses with bounding UE pulses and UE
hypertension
-treatment is surgical repair (use PGE in severe lesions to maintain PDA)
Aortic stenosis
-due to thickened, rigid, non-compliant aortic valve (AV)
-AV is commonly bicuspid rather than tricuspid
-produces LVH due to increased LV afterload
-presents with a murmur located at the right USB preceded by an ejection click
-treatment is surgical repair, but restenosis is common; valve must usually be replaced at
some point
Pulmonic stenosis
-due to stenosis of the PV
-produces RVH due to increased RV afterload
-in severe lesions, RV afterload may increase to such a degree that RA pressures increase
and maintain a PFO, resulting in right -> left shunting
-treatment: surgical or catheter repair; PGE in severe cases to maintain PDA prior to repair
Acquired Structural Disease
Rheumatic heart disease
-complication of acute rheumatic fever (occurs in 50-80% of cases; sequela of GAS infection)
-MR is the most common lesion, but aortic insufficiency may also occur
-patients with severe disease present with frank CHF
Kawasaki disease
-may present with pericarditis, myocarditis, coronary arteritis, or coronary artery aneurysm
(most severe complication)
-aneurysm develops in ~25% of cases but regresses in most cases
-early administration of IVIg reduces the occurrence of aneurysm as well as high-dose aspirin
therapy
-low-dose aspirin is continued after treatment (6-8 weeks if aneurysm has resolved,
indefinitely if aneurysm remains)
Endocarditis
-microbial infection of the endocardium, usually in areas with turbulent blood flow
(congenitally defective valves, previously damaged valves, replaced valves, etc.)
-risk factors: IV drug use, indwelling central catheter, and prior cardiac surgery
-no conclusive evidence that dental, GI, or GU procedures are associated with
endocarditis
-antibiotic ppx is only recommended in the following cases:
-prosthetic valves are present
-history of endocarditis
-unrepaired cyanotic heart disease OR repaired heart disease with placement of
prosthetic devices
-found in children that usually have reduced muscular tone in addition to anatomic
predisposition to obstruction (e.g., large tonsils, morbid obesity)
-symptoms of sleep apnea: frequent position changes during sleep, irregular snoring with
gasps, daytime somnolence, poor growth, behavioral problems, enuresis, and poor academic
performance
-OSA is associated with marked obesity (= Pickwickian syndrome); can produce chronic
hypoventilation with CO2 retention (-> pulmonary HTN and CHF)
-test of choice is polysomnography (measures muscle activity, air flow, oxygenation, sleep
stage, and HR while sleeping)
-treatment is surgical optimization (e.g., removing hypertrophied adenoids/tonsils) followed
by CPAP use
Lower Obstructive Airway Disease
Asthma
-chronic disorder characterized by reversible airway obstruction, inflammation, and bronchial
hyperresponsiveness
-diagnosis is based on symptom recurrence and response to bronchodilators
-multiple potential triggers: URIs, pet dander, dust mites, weather changes, exercise,
cigarette smoke, and seasonal/food allergies are most common (ask about these in the
history)
-severity is determined based on severity of symptoms prior to initiation of therapy
-degree of control is determined by current impairment (i.e., lung function) and risk
-control should be evaluated 2-6 weeks following treatment initiation
-in general, control is assessed as:
-well-controlled: symptoms less than 2 days/week, no interference with normal
activity, night time awakenings less than once/month, SABA use less than
twice/week, FEV1/FEV greater than 80%, oral steroid use once/year
-not well-controlled: symptoms more than 2 days/week, or more than twice/day,
mild interference with normal activity, night time awakenings more than
once/month, SABA use more than twice/week, FEV1/FEV 60-80%, oral steroid use 2-3
times/year
-very poorly controlled: symptoms throughout the day, severe interference with
normal activity, night time awakenings at least once/week, SABA use several times
daily, FEV1/FEV less than 60%, oral steroid use more than 3 times/year
-degree of control is now considered more important than degree of severity
-risk factors: family history, atopy, living in poor urban areas, and African American
-wheezing that fails to respond to bronchodilator therapy should prompt an alternate
diagnosis (response to bronchodilators is part of the diagnostic criteria)
-cough-variant asthma = cough-predominant asthma that may or may not present with
wheezing; symptoms improve with oral corticosteroid use
-physical findings: wheezing, signs of increased work of breathing, and possible mental
status changes (2/2 hypoxia)
-absent breath sounds are a sign of potentially serious respiratory collapse
-diagnosis is based on PFT results and response to therapy (bronchodilators and/or steroids)
-PFTs are generally normal outside of an acute exacerbation
-diagnosis can also be made by challenge with an asthma-inducing agent (e.g.,
methacholine) and reversibility with a bronchodilator
-a CXR during an acute exacerbation may demonstrate hyperinflation and atelectasis
-treatment is based on removal of triggers and maintenance anti-inflammatory drugs
(inhaled corticosteroids, beta-2 agonists, and leukotriene antagonists)
-long-acting beta-agonists are not appropriate for monotherapy
-bronchodilator abuse can result in tolerance to therapy
-the general progression of treatment strategies is:
1) SABA as needed
2) low-dose inhaled steroid (beclomethasone, budesonide, fluticasone,
mometasone)
-tracheal stenosis: due to tracheal cartilage rings that completely encircle the trachea,
resulting in stenosis
-nearly all patients require surgical intervention
-can present with a washing machine inspiratory/expiratory sound, failure to thrive,
and hypoxemia
-tracheal impingement: usually due to abnormal vascular structures (e.g., double aorta,
right-sided aorta, enlarged pulmonary arteries)
-tracheomalacia: due to widening of the posterior membranous portion of the trachea; this
structure is less stable, and the trachea may spontaneously collapse during exhalation
(severe disease), cough, or forced exhalation (more mild)
-presents with a croup-like cough commonly misdiagnosed as recurrent croup
-bronchodilator treatment usually worsens symptoms as relaxation of the trachea
further enlarges the membranous portion be suspicious if symptoms worsen with
bronchodilator therapy
-bronchomalacia: aberrant development of the bronchial tree, due to either poor cartilage
or poor elastic recoil
-usually presents with wheezing on forced exhalation and does not respond to
bronchodilators or steroids
Restrictive Lung Diseases
-class of diseases due to reduced compliance in either the chest wall or the lungs (thus,
inflation of the lungs is restricted)
-much less common in children than obstructive disease
-pectus excavatum/carinatum: deformities of the sternum, producing either a depression
(excavatum) or elevation (carinatum)
-severe malformations can produce restrictive disease; mild malformations generally
do not produce symptoms
-scoliosis: deformity of the spine that can reduce the volume of the thorax in addition to
compressing the airway
-neuromuscular disease: impairs the ability of the diaphragm to contract, resulting in
inadequate lung expansion
-mass lesions: could be due to a variety of lesions, including effusions (pleural or
pericardial), chylothorax/hemothorax/pneumothorax, mediastinal/chest wall masses
-pulmonary hemosiderosis: abnormal accumulation of hemosiderin in the lungs due to
diffuse alveolar bleeding
-source of bleeding should be identified
-may present with hemoptysis, hematemesis, or microcytic anemia
-in general, restrictive disease may present with pulmonary hypertension, digit clubbing, or
respiratory insufficiency if chronic
Aspiration Syndromes
-patients with reduced or absent vocal cord and cough reflexes are at increased risk for
aspiration
-can present with coughing, wheezing, or frank respiratory distress; be suspicious if
especially acute and seems inappropriate given the childs past medical history
-imaging can be useful, but not all objects are radiopaque notify the radiologist of your
suspicion so that particularly careful examination occurs (lol med-legal)
-bronchoscopy provides a definitive diagnosis and can be used for removal
-small aspirated objects that are not removed may cause recurrent pneumonias, atelectasis,
chronic cough, and bronchiectasis
Apnea of Infancy
-defined as the cessation of breathing for at least 20 seconds OR breathing cessation of any
duration in conjunction with color changes, hypotonia, decreased responsiveness, and/or
bradycardia
-not associated with an increased risk of SIDS
-see chart below for common causes of apnea in an infant
Chapter 9 GI
-chronic abdominal pain is defined as persistent abdominal pain severe enough to affect
regular activities for at least 3 months
-in the absence of evidence of an organic cause, most abdominal pain in the
pediatric population is functional
Differential Diagnosis
-functional abdominal pain is now called pain-related functional GI disorder (FGID)
-diagnosis must be distinguished from anatomic, infectious, inflammatory, and metabolic
causes
-may be associated with hyperalgesia (i.e., increased pain transmission and/or decreased
pain threshold)
-major types of FGID:
-functional dyspepsia e.g., upper abdominal discomfort
-IBS pain associated with changes in bowel habits
-abdominal migraine paroxysmal pain associated with nausea/vomiting
-functional abdominal pain syndrome pain in the absence of the above
-functional constipation is also a common cause of abdominal pain
-common causes: lactase deficiency, IBD, celiac disease, eosinophilic GI disorder of
the small or large bowel
-infectious causes are common in acute abdominal pain but usually not in chronic pain
-consider PID in adolescent girls
-disorders of the gall bladder are rarer in children but should be suspected with RUQ pain
that worsens with eating
-vasculitidies (e.g., Kawasaki disease, polyarteritis nodosa, and SLE) are a common cause of
abdominal pain
-psychiatric causes especially malingering and conversion disorders are uncommon in
children
-abdominal pain CAN be a response to stressors, especially when related to school
-can also be a symptom of depression
-in the absence of organic causes of abdominal pain, look into social factors
Clinical Manifestations
-inflammatory vs. colicky pain:
-inflammatory pain generally results in a more lethargic child
-colicky pain generally results in a more agitated child (more strongly associated
with obstruction of a hollow visceral structure)
-pain that interrupts sleep is more likely to be from an organic cause (vs. functional)
-alarm symptoms that warrant immediate intervention/work-up:
-involuntary/unexplained weight loss
-deceleration of linear growth
-GI blood loss
-significant, intractable vomiting
-chronic, severe diarrhea
-persistent RUQ (biliary pathology) or RLQ (appendiceal pathology) pain
-unexplained fever
-family history of IBD
-key question during the exam: does the child need acute surgical intervention?
-does the child ambulate and interact with others normally?
-peritoneal signs = rebound tenderness, guarding, psoas/obturator signs, and
rigidity of the abdominal wall; suggestive of acute abdomen/serious disease
-rectal examination is generally indicated to check for hard/bloody stools unless viral
gastroenteritis is suspected
-pelvic exam is appropriate in adolescent females
-lack of positive findings is suggestive of functional pathology
-alarm signs on exam:
-localized RUQ/RLQ tenderness
-localized fullness/mass effect
-hepatomegaly
-splenomegaly
-CVA tenderness
-point tenderness over the spine
-perianal abnormalities
Diagnostic Evaluation
-surgical consultation should be pursued if appendicitis, volvulus, intussusception, testicular
torsion, or other serious conditions are suspected
-blood in the stool, pertinent travel history, or sick contacts warrant stool culture for possible
bacterial infection
-CT is appropriate if appendicitis is suspected
-functional pain generally warrants no further testing unless an organic cause remains on
the differential
Appendicitis
-due to bacterial invasion of the appendix, usually following obstruction (e.g., by fecalith, a
parasite, or lymphadenopathy)
-reduced incidence in the 10-15 y/o group and very rare in children younger than 5
-generally presents with fever, emesis, anorexia, and diffuse periumbilical pain that migrates
to the RLQ
-guarding, rebound tenderness, and obturator/psoas signs may be present
depending upon the time course
-perforation generally occurs ~36 hours following pain onset
-atypical presentations are very common; retrocecal appendicitis is particularly atypical (RLQ
pain generally does not present until after perforation)
-plain film may demonstrate the presence of fecalith, but CT/US are the imaging modalities
of choice
-treatment consists of surgical intervention; if perforation occurs, broad-spectrum antibiotic
coverage is indicated
Intussusception
-due to telescoping of a proximal segment into a distal segment; this action can result in
incarceration and necrosis of portions of the bowel
-most occurrences are ileocolic (i.e., the ileum invaginates into the ileocecal valve)
-the telescoping action is thought to be made possible by hypertrophy of Peyers patches
(collections of immunological cells) look for a history of bacterial/viral gastroenteritis
-other common lead points: Meckel diverticulum, intestinal polyp, lymphoma, and foreign
body
-presents with intermittent episodes of severe agitation, colicky pain, and emesis
-rectal bleeding occurs in most patients but usually does not look like the classic
currant jelly of bright red blood and mucus
-plain film may demonstrate an air-fluid level consistent with obstruction; US is more useful
as a screening tool
-contrast/air enema can be both diagnostic and therapeutic
-contraindicated if peritoneal signs are present (i.e., concern for perforation)
-laparotomy or direct reduction are indicated if enemas fail or are contraindicated
Emesis
-not strictly associated with GI causes
-complications of severe vomiting: dehydration with a hypochloremic, hypokalemic
metabolic acidosis
-intractable or forceful emesis can result in a Mallory-Weiss tear and esophagitis
-history should differentiate between true vomiting (expulsion of gastric contents) and
regurgitation (spitting up; usually due to reflux)
-timing relative to feeding is also informative
-shortly after feeding = likely due to reflux
-projectile emesis shortly after feeding in 1-3 m/o suggests pyloric stenosis
-emesis in association with a headache or seizure suggests an intracranial process
-acute suggests a more benign cause (e.g., viral gastro, food intolerance, etc.) while
chronic diarrhea necessitates a more thorough work-up to identify or rule-out more
concerning causes
-appearance of stools is also important: water vs. mucus vs. blood
-be concerned if weight loss or failure to thrive occurs
-on exam, hydration status should be determined: severe dehydration is an indication for
hospitalization, especially if the patient is unable to tolerate oral intake
-abdominal masses suggest an obstructive cause (e.g., intussusception)
-diagnostic testing:
-mucus or blood in the stool are indications for stool culture
-a work-up for chronic diarrhea should include checking for immunodeficiency
(recurrent GI infections), pancreatic insufficiency, celiac disease, IBD, and other
serious conditions depending upon the presenting symptoms
-treatment of acute gastroenteritis is centered on maintaining adequate hydration
-the childs normal diet should be continued if the diarrhea is mild and he/she is wellhydrated
-multiple studies have demonstrated that regular diets are more effective at
relieving symptoms than restricted diets
-refeeding should start as early as possible following stabilization of fluid status
-antidiarrheals/antiemetics are NOT recommended
-antibiotic therapy should only be started if specific evidence of a bacterial infection
is found (e.g., positive culture); some infectious respond poorly to antibiotics
Constipation
-defined as the frequent passage of hard stools
-due to stretching of the bowel 2/2 retained stool; infants may present with a functional ileus
-90-95% of cases of constipation outside the neonatal period are functional in etiology
-complications of constipation include fecal impaction, anal fissures, rectal bleeding, and UTI
2/2 obstruction of the urethra due to pressure by the retained stool
-differential diagnosis:
-non-organic: functional constipation (i.e., voluntary withholding), dysfunctional
toilet training
-dietary: inadequate fiber or fluid intake
-GI: functional ileus, Hirschprungs disease, anal stenosis, rectal abscess/fissure,
stricture (particularly following an episode of necrotizing enterocolitis)
-drugs/toxins: lead, narcotics, anticholinergics
-neuromuscular: meningeomyocele, tethered spinal cord, infant botulism, absent
or weak abdominal muscles
-metabolic: CF, hypokalemia, hypercalcemia
-endocrine: hypothyroidism
-usually presents with diffuse, constant abdominal pain, possibly with nausea but generally
not with vomiting
-diagnostic studies are generally not indicated; an XR may reveal the extent of constipation
and possibly identify obstructive lesions if present
-treatment includes disimpaction if a mass is present along with osmotic agents if the
constipation does not resolve
-PEG 3350 is the recommended agent due to palatability and few side effects
-other therapies include mineral oil, MgOH, lactulose, and sorbitol
-a behavioral program and/or retraining is appropriate if the cause is functional
Hirschprungs disease
-due to failure of ganglionic cells of the myenteric plexus to migrate to the distal end of the
bowel
-results in a tonically contracted bowel that causes obstruction
-male predominance (3:1)
-most cases do not extend proximally past the splenic flexure
-failure to pass meconium within the first 24-48 should start a search for an organic cause of
obstruction (including Hirschsprungs)
-other presenting symptoms include bilious emesis, poor feeding, and abdominal distension
-cases that affect limited portions of the bowel may not be diagnosed until much later in
childhood
-XR will demonstrate collection of feces and a focal point of obstruction
-contrast enema may demonstrate a point of obstruction, but a normal contrast enema does
not rule out obstruction
-biopsy is the diagnostic test of choice and demonstrates an absence of ganglion cells,
abnormal AChE staining, and hypertrophied nerve trunks
-treatment is surgical correction that includes removal of the aganglionic segment and the
formation of an anastomosis between the new end of the bowel and the rectum
GI bleeding
-important distinction: hematochezia (passage of bright red blood) vs. melena (passage of
black, tarry stools that usually test positive for occult blood)
-hematochezia is generally indicative of an active lower GI bleed (or an upper GI
bleed with rapid transit)
-melena is generally indicative of an upper GI bleed
-blood-streaked stool is generally indicative of a small bleed (e.g., due to an anal fissure or
polyp)
-diarrhea with bloody stools is generally indicative of an inflammatory process (e.g., IBD or
infection)
-see below for common causes of GI bleeding by age
-initial evaluation should focus on ensuring adequate volume and perfusion
-check vital signs (e.g., tachycardia, hypotension), including orthostatics
-evaluation should include a CBC with diff, a platelet count, and coagulation studies UNLESS
the source of GI bleeding is clearly from the nose
-gastric lavage is indicated if the source of bleeding is unclear or if a GI bleed is
suspected (return of clear fluid makes an upper GI bleed highly unlikely)
-bloody diarrhea following several days of nonbloody diarrhea is highly suspicious
of E. coli O157:H7 infection
-bloody diarrhea in the neonate raises concern for necrotizing enterocolitis XR and
sepsis work-up are indicated
-large volume, painless rectal bleeding raises concern for a Meckel diverticulum
-treatment is centered on maintaining adequate hydration and stopping bleeding; see below
for diagnostic/treatment algorithm
Meckel diverticulum
-due to persistence of the omphalomesenteric duct, which is normally obliterated during the
fetal period
-most common GI abnormality in the newborn
-lesion is located within 1 m of the ileocecal valve in the small bowel
-acid-secreting gastric tissue is frequently present in symptomatic cases due to ulceration of
mucosa 2/2 acidic damage
-most commonly presents as painless rectal bleeding
-diagnosis is made by a Meckel scan essentially consists of ingestion of technetium-99
pertechnetate, which binds to gastric mucosa and localizes the lesion
-treatment is surgical repair of the diverticulum
Inflammatory bowel disease
-generic term for Crohns disease and ulcerative colitis
-ulcerative colitis: leads to diffuse ulceration of the superficial intestinal mucosa with crypt
abscesses
-involves the rectum in nearly all cases, usually with contiguous proximal spread but
skipping of lesions can occur
-does NOT affect the small intestine
-rare complications include toxic megacolon and perforation
-diagnosis requires bile duct paucity and 3 of the following: cholestasis, cardiac
murmur/heart disease, skeletal anomalies, ocular findings, and facial features
-most common cardiac abnormality is stenosis of the pulmonary vasculature
-most common ocular findings: hypertelorism (abnormally large distance between
eyes) and bilateral posterior embryotoxon
Nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH)
-most common cause of liver disease in children
-presents with fat accumulation (macrovesicular) with inflammation (NASH) or without
(NAFLD)
-NAFLD predisposes to the development of type 2 DM, hypertension, and dyslipidemias
-other risk factors for NAFLD: male, Hispanic ethnicity, Asian (particularly Chinese/Filipino
individuals)
-physical exam findings: acanthosis nigrans
-liver panel demonstrates ALT and AST elevation (ALT>AST), elevated GGT and alk phos, low
HDL, and elevated fasting triglycerides
-liver biopsy is usually needed for definitive diagnosis
-no medical therapy yet: management includes lifestyle modification to promote weight loss
Chapter 10 Infectious Disease
Fever of unknown origin
-defined as a fever (T greater than 38.3/101) lasting more than 14 days with no clear
etiology
-usually due to a common disorder presenting in an uncommon way
-basic differential:
-infectious: sinusitis, hepatitis, CMV/EBV infection, cat-scratch disease, Rocky
Mountain spotted fever, endocarditis, septic arthritis, osteomyelitis, abdominal
abscess, enteric fever, HIV infection
-connective tissue disease: systemic juvenile idiopathic arthritis, SLE
-malignancy: leukemia, lymphoma, neuroblastoma
-other: IBD, Kawasaki disease, thyrotoxicosis, sarcoidosis, factitious fever
-initial diagnostic testing:
-CBC, BMP, LFTs, and UA
-cultures from urine, blood, stool, and possibly CSF
-can consider inflammatory markers (e.g., CRP/ESR)
-CXR/PPD for TB infection prudent
-in most cases, spontaneous recovery occurs without sequelae
Bacteremia and sepsis
-bacteremia = presence of bacteria in the blood
-most episodes of bacteremia are due to S. pneumoniae
-sepsis = bacteremia with a clinically appreciable systemic response that includes altered
organ perfusion
-in younger children, GBS, enteric gram negative rods, and Listeria are the most
common causes
-in older children, S. pneumoniae and N. meningitidis are most common
-basic work-up includes pan cultures (urine, blood, stool, and CSF) to identify source and
immediate initiation of empiric treatment pending culture results
Acute otitis media
-shorter Eustachian tubes and tube dysfunction predispose children to ear infections
-viruses are the most common cause, but bacterial superinfection is relatively common
-common bacterial sources include S. pneumoniae, non-typeable H. influenza, and Moraxella
-many isolates of these species exhibit beta-lactamase activity
-frequently presents following URI symptoms (edema and inflammation of the upper
respiratory tract can make the Eustachian tube even more occluded, increasing the risk of
infection)
-tympanic membrane may appear full/bulging and opaque with an altered light reflex
-other possible diagnoses:
-otitis media with effusion: visible fluid behind the TM in the absence of other
signs of inflammation
-myringitis: inflammation of the TM with no impairment in mobility
-otitis externa: ear pain without involvement of the TM (due to
inflammation/infection of the ear canal)
-treatment: high-dose amoxicillin is first-line
-antibiotic use in the last month OR no resolution within 48 hours are indications for
second-line treatment: amoxicillin/clavulanic acid, 2nd/3rd generation cephalosporin,
or IM ceftriaxone
-otitis media with effusion commonly follows otitis media may take up to 3 months to
resolve
-frequent ear infections may indicate tympanostomy tube placement
-mastoiditis: complication of otitis media due to infection of the mastoid
Sinusitis
-pathogens most often responsible for sinusitis are identical to pathogens in acute otitis
media
-two common presentations (can be difficult to diagnose as classic findings of headache,
facial pain, and sinus tenderness may not be present):
1) persistent respiratory symptoms (10-14+ days) without improvement with clear or
purulent nasal discharge or a daytime cough
2) severe symptoms including high fever and purulent nasal discharge for at least 3
days
-primarily a clinical diagnosis XR of the sinuses may be warranted if the diagnosis is
uncertain
-treatment is similar to otitis media, but course of antibiotics should be longer (14-21 days)
-recurrent sinusitis warrants a work-up for possible CF, ciliary dyskinesia, or a primary
immune deficiency
Herpangina
-symptom complex caused by enteroviruses (commonly coxsackie A/B)
-clinical course: high fever and sore throat followed by vesicular lesions on the soft palate,
tonsils, and pharynx that progress to ulcers
-self-limited and typically resolves in 5-7 days without treatment
-when lesions on the palms and soles are noted, the disease is called hand-foot-mouth
disease
Streptococcal pharyngitis
-GAS pharyngitis must be treated due to frequency and severity of complications following
untreated infection
-spread by oral secretions; 10-15% of otherwise well children are carriers
-commonly presents with sore throat, fever, headache, malaise, nausea, and sometimes
abdominal pain
-pharynx demonstrates enlarged, erythematous, exudative tonsils; petechiae may be
present on the soft palate
-appearance of a fine, bumpy rash (sandpaper rash) on the trunk in conjunction
with these symptoms is scarlet fever
-definitive diagnosis requires culture and/or antigen testing
-rapid testing is very specific (95+%) and is the initial screening test
-negative test should be followed by a throat culture
-treatment is a 10-day course of penicillin (penicillin resistance is rare but has been
reported)
-alternatives for those with penicillin allergies include erythromycin, azithromycin,
and clindamycin
-two important post-infection complications:
-acute rheumatic fever: inflammatory condition that involves the heart, joints, and
CNS
-neonates should receive a more substantial work-up (i.e., sepsis work-up) and
receive treatment based on culture results
Meningitis
-infection of the leptomeninges (= pia and arachnoid) or CSF
-viral infections are typically acute and self-limited
-bacterial infectious are life-threatening with significant morbidity and mortality
-aseptic meningitis = inflammation due to antigen stimulation by a non-pyogenic
bacterium
-the most common etiologies vary with age see chart below
-neonates and children younger than 3 are at greatest risk (and also have the highest risk
for bacterial vs. viral infection)
-risk factors: trauma, mastoiditis, sinusitis, and cranial defects
-in the neonate: low birth weight, prolonged membrane rupture, and
chorioamnionitis
-classically presents with nausea, vomiting, photophobia, irritability, lethargy, headache, and
neck stiffness
-viral meningitis typically precedes the above with malaise, fever, sore throat, and/or
myalgias
-viral infection usually resolves within 2-4 days; symptoms may improve with LP
-bacterial infection typically presents more severely: altered mental status, focal
neurological signs, seizures, and shock
-Lyme meningitis takes a slower course (1-2 weeks) and may present with cranial nerve
palsies
-two important physical exam signs:
-Kernig = pain on knee extension after hip flexion
-Brudzinski = involuntary leg flexion with passive neck flexion
-these are rare in children less than 1 y/o
-CSF analysis is the most important test (do not LP if focal signs or increased ICP are
present)
-bacterial: 1000+ WBCs (PMNs), high protein, low glucose
-viral: less than 500 WBCs (lymphs), normal-high protein, normal glucose
-Lyme: less than 100 WBCs (lymphs), normal-high protein, normal glucose
-bacteria are commonly recovered on CSF cultures, making culture diagnostically
useful
-uncomplicated viral meningitis does not typically require hospitalization
-treatment options for bacterial meningitis:
-neonates: ampicillin (GBS + Listeria) + cefotaxime (GNRs)
-infants and older children: vanc + ceftriaxone
-typical course is 10-14 days
Gastroenteritis
-can be caused by a variety of different organisms; diarrhea is induced via a variety of
mechanisms (direct bacterial damage, toxin production, etc.)
-main complication is dehydration due to excessive stooling +/- poor tolerate to oral intake,
leading to electrolyte abnormalities
-most common bacterial causes are Salmonella, Shigella, E. coli,
Yersinia, and Campylobacter
-usually present with fever, significant abdominal cramping, and tenesmus
-stool may contain mucus with blood streaking
-Shigella may produce neurological findings (lethargy, seizures, altered mental
status)
-Salmonella undergoes hematogenous spread, increasing the risk for osteomyelitis
(particularly in sickle cell patients) and meningitis
-Shigella dysenterae and E. coli O157:H7 can present with hemolytic uremic
syndrome (= HUS = triad of microangiopathic hemolytic anemia, nephropathy, and
thrombocytopenia)
-Yersinia commonly presents with erythema nodosum and may present as pseudoappendicitis due to RLQ localization
-rotavirus is the most common cause of non-bacterial gastroenteritis
-infections most common in colder months
-presents with profuse diarrhea, vomiting, and low-grade fever
-norovirus presents similarly to rotavirus, but the length of symptoms is usually more limited
-in the US, most common parasitic infection is Giardia
-presents with frequent, foul-smelling stool (usually without blood and mucus),
nausea, vomiting, anorexia, and abdominal pain
-symptoms usually resolve in 5-7 days but may persist for one month
-basic diagnostic work-up:
-electrolytes to check for abnormalities 2/2 dehydration
-abdominal XR is generally not helpful either normal or nonspecific
-stool culture may be helpful
-check for C. difficile if there is a recent history of antibiotic use
-if symptoms persist and no cause has been identified, endoscopy is indicated
-treatment: centered primarily on maintaining adequate hydration
-antibiotics should be withheld pending culture results unless the child appears toxic
-antibiotics prolong Salmonella shedding and increases the likelihood of developing
HUS in E. coli O157:H7 infections due toxin release 2/2 bacterial death
-Shigella can be treated with TMP-SMX
-Campylobacter can be treated with erythromycin or azithromycin
-C. difficile can be treated with metronidazole but typically improves when antibiotics
are stopped
Pinworm infection
-infection with Enterobius
-incidence is the greatest in pre-school and school-aged children
-usually presents with perianal or perivulvar itching
-diagnosis is made using the Scotch tape test: examination of tape stuck to the area and
investigated under the microscope
-tape will pick up eggs present on the skin which are visible under the scope
-treatment is with mebendazole, pyrantel pamoate, or albendazole
-all family members should be treated, particularly siblings
-hand washing is the most effective form of prevention
Hepatitis
-defined as acute inflammation of the liver resulting in various biochemical abnormalities
-discussion will center on infectious causes of hepatitis
-HAV and HEV are transmitted by the fecal-oral route
-HBV, HCV, and HDV (requires concurrent HBV infection) are transmitted by infected body
fluids
-chronic carrier states can develop with HBV and HCV
-incidence of HAV and HBV is low in the neonatal population due to universal vaccination
-in children, acute hepatitis usually presents with anorexia, nausea, malaise, vomiting,
jaundice, dark urine, abdominal pain, and low-grade fever
-HAV and HEV can present with diarrhea
-HBV and HCV rarely present acutely
-differential:
-infectious causes are limited due to systemic involvement of most other etiologies
-non-infectious causes include autoimmune hepatitis, metabolic liver disease, biliary
tract disorders, and toxin ingestion
-all sources present with liver enzyme elevations
-differentiating among infectious sources requires serology
-HAV: test for anti-HAV IgM (current infection)
-HBV: test for anti-HBs (resolved infection), anti-HBc (active/past infection), and antiHBe (past or chronic infection)
-essentially a functional iron deficiency: appropriate iron levels are present but not available
for cellular use due to macrophage sequestration
-anemia is typically mild and asymptomatic
-treatment is directed at the underlying cause anemia will typically resolve without
intervention once the inflammation is resolved
Transient erythroblastopenia of childhood
-acquired pure RBC aplasia 2/2 temporary suppression of erythropoiesis
-exact cause unknown but thought to be due to a variety of viral infections that may
otherwise be asymptomatic
-usually limited and spares WBCs and platelets
-peak incidence at age 2, with most cases between 6 mo-4 years
-typically presents with pallor recognized by a visiting friend/relative (pallor is subtle and
may not be appreciated by regular caregivers), otherwise asymptomatic
-should be distinguished from frank bone marrow failure (Diamond-Blackfan anemia)
-treatment is reassurance; if anemia severe, transfusions can be performed
Hemolytic anemia
-usually presents with normocytic anemia with increased RBC production
-anemia is detected by the renal system which stimulates erythropoiesis; reticulocytosis is
usually present
-further classified as intrinsic (due to defects with the RBC itself) or extrinsic (due to defects
with something other than the RBC)
-intrinsic defects can be due to defects in the membrane, RBC enzymes, or Hb
-extrinsic defects can be classified as immune (due to antibody and/or complement
deposition on RBC) or non-immune (any other cause)
Hereditary spherocytosis
-abnormal RBCs that result in a spherical rather than biconcave cell shape
-can be due to defects in a variety of cell components which include spectrin, ankyrin, band
3 protein, and protein 4.2
-RBCs have a reduced lifespan and are typically eliminated in the spleen by macrophages
-most cases are inherited in an autosomal dominant way but 25% of cases have different
etiologies
-severe disease (severe anemia, growth failure, splenomegaly, and chronic transfusions) is
rare disease is typically asymptomatic and an incidental finding
-can present with hyperhemolytic episodes which manifest as frank anemia, pallor, and
jaundice
-usually 2/2 underlying illness and resolves with illness resolution
-infection with parvovirus specifically can be problematic due to predilection for
RBCs
-long-term complications include gallstones 2/2 increased bilirubin production
-diagnostic evaluation should include CBC with diff, reticulocyte count, Coombs (to rule out
autoimmune hemolytic anemia), and, if the diagnosis is in doubt, eosin-5-maleimide binding
-intervention is not necessary in mild cases
-splenectomy is curative for the hemolysis should only be performed if patient is
symptomatic due to increased risk for infection by encapsulated organisms
Sickle cell disease
-due to a defect in hemoglobin that results in hemoglobin polymerization in times of
increased oxygen tension
-sickle cell disease is due to a homozygous defect; various other conditions (HbSC disease,
sickle cell trait) exist with heterozygotes
-pathology is due to sickling of the RBC due to Hb polymerization which results in hemolysis
and occlusion of small vessels leading to ischemia and infarction
-newborn screens typically identify hemoglobinopathies work-up is not necessary but
would include CBC and possibly Hb electrophoresis
-anemia and reticulocytosis usually develop by 2-6 months
-both the PTT and PT are prolonged due to involvement of multiple factors
-can present similarly to DIC differentiated by normal platelets, fibrinogen levels, and
factor VIII levels (all of which are reduced 2/2 consumption in DIC)
Treatment of deep venous thrombosis (DVT) and pulmonary embolism (PE)
-rare in children generally, but more common in patients with prolonged hospital stays
-obesity and OCP use in women also increases risk of thrombosis
-classic presentation is acute, unilateral limb swelling with pain and discoloration and
distended superficial veins
-multiple genetic conditions can predispose to thrombosis:
-factor V Leiden mutated factor V that cannot be degraded as easily, resulting in
prolonged coagulation activation
-protein C/S and antithrombin deficiencies impair deactivation of the coagulation
cascade, resulting in thrombosis
-pulmonary embolism is a complication of thrombosis due to capture of a thrombus in the
pulmonary vasculature
-if large enough, can result in V/Q mismatch and circulatory failure
-in both cases, treatment is with anticoagulation
-acutely, heparin is typically used
-chronic treatment/prevention is with warfarin
-thrombolytics (e.g., tissue plasminogen activator = tPA) can be used in acute cases
to dissolve the thrombus
Transfusion of blood products
-different types of products that can be transfused:
-packed RBCs (PRBCs) = for symptomatic or severe anemia; results in an
immediate increase in O2 carrying capacity due to increased Hb; 10-15 mL/kg of
PRBCs increases Hb by 2-3
-platelets = to prevent or stop bleeding in patients with thrombocytopenia or
platelet dysfunction
-fresh frozen plasma = for replacing deficient coagulation factors
-cryoprecipitate is a specific product rich in factors VIII and IX, fibrinogen,
and vWF
-granulocytes = for severe neutropenia and unresponsive, life-threatening sepsis
-important reactions associated with transfusion:
1) febrile reactions stop transfusion, do transfusion work-up, and administer
antipyretics
2) allergic reactions present immediately following initiation of transfusion with
pruritis, rash, and urticaria; stop transfusion and administer antihistamines, may
need steroids
3) acute hemolytic reaction usually due to administration of mismatched blood
products with sudden onset fever, chills, tachycardia, tachypnea, and vomiting
4) infections (i.e., due to contaminated products) very rare, but can occur
5) transfusion-associated acute lung injury presents with non-cardiogenic
pulmonary edema, thought to be 2/2 immune cell reaction to products and
destruction of the pulmonary vasculature
6) transfusion-associated graft versus host disease due to grafting of
immunocompetent T cells with the infused product which cannot be suppressed by
the host immune system; very rare but fatal; prevented with product irradiation prior
to infusion, usually used only if immunodeficient individuals are receiving blood
products
7) alloimmunization/delayed hemolytic transfusions most common in individuals
that receive multiple transfusions; due to the development of antibodies against
transfused products
8) iron overload occurs in chronically transfused patients due to inability to
eliminate excess iron; chelation therapy can be used if end-organ damage is a
concern
Chapter 12 Oncology
-most common cancers in young children are leukemias and brain tumors; in adolescents,
Hodgkins disease and germ cell tumors are most common
-in general, childhood cancers have good prognoses and high cure rates
Leukemia
-most common childhood malignancy acute lymphocytic leukemia (ALL) is the most
common type
-due to malignant transformation and clonal expansion of hematopoietic cells
-can be either lymphoblastic (of lymphocyte origin) or myeloid (all other origins)
-acute leukemias are the most common (97%): they are rapidly fatal but generally curable
-chronic leukemias are more indolent but may undergo transformation to an acute leukemia
-leukemias are classified by morphology (appearance of blast cells) and immunology
(surface antigen expression)
-most common subtype is precursor B cell leukemia
-AMLs use a different classification scheme which is based on both morphologic and
histochemical criteria
-incidence of ALL peaks at 2-5 years while the incidence of AML peaks in adolescence
-increased risk of leukemia associated with trisomy 21, Fanconi anemia, Bloom syndrome,
ataxia-telangiectasia, X-linked agammaglobulinemia, SCID, past chemotherapy, and twins
with an affected sibling
-presentation is generally nonspecific:
-lethargy, malaise, and anorexia are common
-bone pain and arthralgias 2/2 bone marrow expansion 2/2 increased activity may
occur
-progressive marrow failure may cause signs of anemia and thrombocytopenia
-WBC count is NOT consistent equally distributed among low, normal, and elevated
counts in confirmed diagnoses
-HSM and lymphadenopathy is typically present at diagnosis
-evaluation should include rule outs of rheumatological disease, non-malignant bone marrow
failure, infection, and drug-induced hematologic abnormalities
-diagnosis is based on CBC and bone marrow findings
-CBC may demonstrate blast cells
-flow cytometry is used to evaluate surface marker expression
-metabolic panel prior to initiation of chemotherapy to evaluate for possible
complications (e.g., tumor lysis syndrome) is appropriate
-bone marrow biopsy is required for definitive diagnosis and staging
-treatment is immediate stabilization and chemotherapy (see below for specifics)
ALL therapy
-high risk of tumor lysis syndrome (= triad of hyperuricemia, hyperphosphatemia, and
hyperkalemia 2/2 expulsion of cell contents following death)
-hyperkalemia can cause cardiac arrhythmias
-hyperphosphatemia can cause precipitation of calcium phosphate and subsequent
hypocalcemia
-hyperuricemia can cause precipitation of uric acid stones and renal failure
-more common in types with massive proliferation and mediastinal masses
-hyperleukocytosis (WBC count above 200k) can lead to vascular stasis and thrombotic
complications
-treat with hydration to dilute blood or with leukophoresis
-large mediastinal masses can result in compression of vital structures (e.g., SVC syndrome,
airway obstruction)
-treatment plan has 4 phases:
-induction therapy = maximum killing phase of malignant cells
-occurs over 4 weeks with vincristine, steroids, methotrexate, and
asparaginase
-nearly all patients achieve remission following induction
Atopic dermatitis
-chronic, relapsing and remitting skin reaction to allergens
-most commonly associated allergens are milk proteins, egg, fish, wheat, soy, dust mites,
and animal dander
-rash presents as a pruritic, erythematous, weeping papiulovesicular lesion
-progresses to scaling, hypertrophy, and lichenification (thickening of the skin)
-most commonly affected areas in infants include the extensor surfaces of the arms
and legs, the wrists, face, and scalp (diaper area is spared)
-flexor services are affected in older children
-differential includes contact dermatitis and psoriasis
-treatment is avoidance of allergens and aggressive hydration
-tight clothing and heat should be avoided due to association with exacerbations
-topical corticosteroids can be used lesions
-main complication is infection of exposed lesions
Allergic rhinitis
-also known as hay fever
-uncommon before age 4-5; should distinguish between seasonal and year-round allergies
-seasonal allergies suggest an outdoor, likely plant-based allergen
-year-round allergies suggest an indoor allergen (more likely to be controlled and,
thus, minimize symptom development)
-due to a type 1 hypersensitivity reaction IgE mediated
-IgE bound to allergen stimulates mast cells, which release mediators that promote
vasodilation, mucus production, and edema
-main risk factors are other atopic findings and genetic predisposition
-early exposure to cigarette smoke may increase risk of developing allergies
-early exposure to pet dander may reduce the risk of developing atopic disease
-presents with nasal congestion, profuse watery rhinorrhea, and sneezing
-post-nasal drip may cause frequent coughing/throat clearing
-key physical exam findings:
-allergic shiners = dark circles that develop under the eyes 2/2 venous congestion
-allergic salute = crease across the middle of the nose 2/2 wiping
-severe allergies may cause children to become obligate mouth breathers
-differential:
-infectious rhinitis more common in infants and toddlers; usually presents with
mucopurulent (vs. watery) discharge
-nasal foreign body discharge is usually thick, unilateral, and foul-smelling
-sinusitis facial pain, headache, and cough
-idiopathic nonallergic rhinitis similar presentation, but thought to be due to an
exaggerated vascular response to irritants (not IgE-mediated)
-treatment is centered on allergen avoidance and antihistamine therapy
-limiting indoor humidity (promotes dispersion of allergens on water particles) and
using air conditioning rather than windows in the summer can reduce allergen loads
-frequent washing of bedding can reduce dust mites and fungi
-H1-histamine blockers and nasal corticosteroids are typical treatment
-immunotherapy can be used and is highly effective for rhinitis, allergic asthma, and
insect stings; may also reduce subsequent development of atopic disease
Urticaria and angioedema
-both are the result of type 1 hypersensitivity reactions
-urticaria (also called hives) = raised edematous lesions due to increased vascular
dilation and permeability
-angioedema = edema in the lower dermis and subcutaneous areas without pruritis,
erythema, and warmth
-history and exam should focus on identifying new exposures to identify possible triggers
-may take up to 48 hours for lesions to develop following exposure
Hypothyroidism
-most common cause of acquired hypothyroidism is Hashimotos thyroiditis
-female predominance (4:1) and usually in the setting of a family history of
autoimmune disease
-most common in adolescence rare in children younger than 5
-other causes include pituitary deficiency and surgical/radioactive thyroid ablation
-usually presents with cold intolerance, diminished appetite, lethargy, and constipation
-exam may demonstrate slow linear growth, dry/thin hair, dry skin, and delayed reflexes
-treatment is thyroid hormone replacement
Hyperthyroidism
-most commonly due to Graves disease (antibody stimulation of TSH receptors resulting in
thyroid hormone secretion)
-usually presents with elevated T4 and reduced TSH
-symptoms include increased appetite, heat intolerance, emotional lability, restlessness,
excessive sweating, loose stools, and poor sleep
-changes in behavior and/or school performance are typically present
-physical exam may demonstrate a diffusely enlarged thyroid, tremors, tachycardia, and
widened pulse pressure
-acute-onset tachycardia, hyperthermia, diaphoresis, fever, nausea, and/or vomiting
suggest thyroid storm and may warrant hospitalization
-treatment is with antithyroid drugs (methimazole)
-propylthiouracil is not recommended due to adverse hepatic effects
-beta-blockers can be used to control symptoms though they are NOT appropriate
treatment for acute thyrotoxicosis
-if chronic, surgical or radioactive ablation can be performed
Thyroid nodule
-a single nodule in children is more likely to be malignant (vs. older patients where nodules
are typically benign)
-a cold (suggestive of reduced metabolic activity) thyroid scan further supports a
malignant etiology
-nodules are typically removed surgically
Painful thyroid gland
-typically suggests infection either by a virus or bacterium
-subacute thyroiditis may present following a viral illness with hyperthyroidism (due to
release of thyroid hormone from damaged cells) followed by hypothyroidism (due to reduced
number of thyroid cells)
-bacterial infections are treated with antibiotics, otherwise treatment is supportive
Adrenal Dysfunction
Hypoadrenocorticism
-due to reduced cortisol secretion; may be accompanied by reduced secretion of other
cortex products (e.g., aldosterone) depending upon the disease process
-common causes in neonates: adrenal hypoplasia, ACTH unresponsiveness, adrenal
hemorrhage, and infarction (Waterhouse-Friedrickson syndrome)
-in older children, usually due to an autoimmune process
-may also be due to reduced ACTH production (secondary adrenal insufficiency)
-most commonly due to prolonged steroid administration -> shut down of axis
-presents with nonspecific symptoms: weakness, nausea, vomiting, weightloss, headache,
emotional lability, salt craving
-increased pigmentation suggests increased ACTH secretion
-can also present with electrolyte abnormalities if aldosterone production/secretion is
impaired
-acute treatment is steroids and correction of electrolyte abnormalities
-chronic disease may require regular corticosteroid/mineralocorticoid
supplementation
Congenital adrenal hyperplasia
-defined as sex characteristic development after age 13 OR lack of menarche 3 years after
onset of puberty in girls; in boys, defined as lack of sex characteristics by 14 OR lack of
genital growth 5 years after onset of puberty
-most cases are due to constitutional delay with no evidence of additional pathology
-common causes include gonadal failure (e.g., 45XO in girls, 47XXY in boys) and disruption
of the HPA axis
-evaluation should include checking LH/FSH, estrogen/testosterone, thyroid function, and
prolactin levels
Disorders of calcium
-usually due to derangements in either PTH or vitamin D
-ionized calcium is active be sure to correct if albumin levels are wacky (Ca is bound to
albumin; this is included in the total Ca level but is not physiologically active)
-PTH acts to increase Ca resorption in bone, renal sparing of Ca, and active vitamin D
production
Hypocalcemia
-common causes of hypocalcemia:
-PTH receptor mutation that results in PTH resistance (pseudohypoparathyroidism)
-autoimmune or surgical destruction of parathyroids
-hypomagnesemia (Mg is required for PTH secretion)
-vitamin D deficiency is common, particularly in individuals with dark skin
-presents with classic signs of hypocalcemia:
-muscle twitches or spasms (particularly in response to tapping on the face or
pressure to the proximal arm), agitation, tetany, seizures, prolonged QT on EKG
-evaluation includes measurement of vitamin D, PTH, and Ca/PO4 levels
-low vitamin D, Ca, and PO4 with elevated PTH suggest vitamin D deficiency
-elevated PTH, low Ca, and high PO4 suggest Ca deficiency
-low PTH, low Ca, and high PO4 suggest problem with PTH production
-treatment is supplementation of deficient electrolyte/compound
Hypercalcemia
-can be asymptomatic or present with lethargy, inability to concentrate, depression,
seizures, osmotic polyuria, and hypertension
-EKG may demonstrate QT shortening
-Ca-based renal stones may be present on renal US
-treatment is with fluids and furosemide (encourages Ca wasting)
-can also use bisphosphonates to reduce bone resorption -> lowers Ca
-excess due to excess vitamin D can be treated with steroids or ketoconazole
Chapter 15 Neurology
Neurodevelopment
-the skills of normal development are divided into five categories: gross motor, fine motor,
language, social/emotional, and adaptive
-the two screens used to evaluate development include the Denver II and the CAT/CLAMS
-developmental delay = development of skills significantly behind average attainment at a
given age
-developmental quotient = score that quantifies developmental achievement
-developmental dissociation = difference in the rates of development between different skill
areas
-language is considered to be the best predictor of future intellectual potential
-when evaluating development, chronological and gestational age should be considered
-for example, a 9 week old infant born 5 weeks premature should be evaluating like
a 4 week old infant for the purposes of determining appropriate developmental
milestones
-speech delays can present in a variety of ways
-language disorders result in the inability to understand or acquire linguistic
conventions
-speech disorders involve difficulty with actual physical speech
-white matter = due to abnormally produced myelin; usually presents with focal
neurological deficits, spasticity, visual disturbances, changes in personality, and
cognitive decline
-systemic = affect a variety of nervous system pathways; example is Rett syndrome
-presents with repetitive hand wringing, seizures, ataxia, mental retardation,
and autistic behavior
Seizures
-defined as an event due to abnormal and excessive electrical brain activity
-can present with positive signs (motor, sensory, autonomic changes) and/or negative signs
(loss of awareness, loss of motor tone) depending upon the location of the lesion
-epilepsy = occurrence of two or more unprovoked seizures
-unprovoked seizure = seizure for which no identifiable clinical cause can be found
-no apparent cause can be determined for most cases of epilepsy
Febrile seizures
-brief seizures that occur in association with fever
-most common in children aged 6 mo-6 years
-not considered when diagnosing epilepsy
-simple febrile seizures are generalized, brief, and single
-complex febrile seizures are focal, prolonged, and repetitive
-most occur within 24 hours of illness onset in children less than three years old and with
fevers of 39 or higher
-daily AED use is not indicated
-important to ensure that there is not another intracranial process or other identifiable cause
for seizures; diagnosis is by exclusion and largely based on history
-EEG and neuroimaging is not typically performed
-prognosis is excellent - most patients do not develop epilepsy
-studies have demonstrated no difference in cognitive ability in children with a history of
febrile seizures
Epilepsy
-recurrence rate after a single unprovoked seizure is 30-40%
-recurrence increases for each subsequent seizure
-AEDs are usually started after the second or third unprovoked seizure
-about half of the children that are diagnosed with epilepsy will grow out of their seizures
-initial evaluation should clarify whether the event was a true seizure or not
-other possibilities include reflux, syncope, and night terrors
-EEG can be performed to support the diagnosis of epilepsy
-can also classify seizures as focal or generalized
-a normal EEG does not necessarily rule out a seizure disorder
-MRI can be used if a focal process is suspected
-identifies a cause for new-onset seizures in about 20% of cases
-seizures are classified as different types depending upon the symptoms that occur during
an episode
-partial seizures = typically presents with focal signs
-motor seizures can produce focal rhythmic twitching, involuntary
movements, or arrest of speech
-sensory seizures can produce tingling, numbness, unpleasant odors or
tastes, vertigo, flashing lights, or auditory symptoms
-autonomic seizures can produce an epigastric rising sensation, vomiting,
sweating, pupillary changes, or goosebumps due to piloerection
-simple = no loss of consciousness
-complex = loss of consciousness
-generalized seizure = abnormal activity spread throughout both hemispheres of
the brain diffusely
-consciousness is impaired
-bladder or bowel incontinence may occur
Osteogenesis imperfecta
-group of disorders that results in fragile, brittle bones
-each disorder is inherited in a different way and presents with variable severity
-be suspicious in a child with multiple fractures early in childhood with no clear cause (may
initially raise suspicions for child abuse)
Chapter 17 Nephrology and Urology
-primary function of the renal system is to maintain fluid homeostasis, but it is also involved
with RBC production (erythropoietin secretion), bone growth (vitamin D processing), and
blood pressure regulation
-infants are susceptible to renal injury due to reduced efficiency
Renal dysplasia
-due to abnormalities in the formation of the renal parenchyma, typically in both kidneys
-degree of dysplasia determines the severity of symptoms
-common causes include:
-renal agenesis = failure of one or both kidneys to form
-bilateral agenesis results in the Potter sequence (clubbed feet, cranial
abnormalities, still born or die perinatally) due to inability to produce urine
-multicystic dysplastic kidney most common renal disease of childhood;
presents with multiple, noncommunicating, fluid-filled cysts
-affected kidney is nonfunctional
-unilateral in nearly all cases
-visualized with US
-most lesions undergo spontaneous involution; nephrectomy is performed
only if symptoms develop or there is concern for malignancy
-polycystic kidney disease = inherited disease that can be recessive or dominant
-the recessive form results in dilated collecting tubules and cysts that result
in poorly functioning organs; gross morphology is typically normal
-the dominant form does not typically present until adulthood; unlike the
recessive form, the cysts are large and appreciably distort the shape of the
kidney
-renal function progressively declines until hemodialysis is necessary
-results in inability to concentrate the urine; consequently, fluid and electrolyte regulation is
impaired
-diagnosis is usually based on imaging studies; labs may demonstrate electrolyte
abnormalities and elevated creatinine
Ureteropelvic junction obstruction
-most common cause of hydronephrosis in children
-can be primary (intrinsic anatomical defect) or secondary (due to scarring or other anatomic
malformation 2/2 different process)
-results in increased intrapelvic pressure, dilation of the kidney, and urinary stasis
-many cases are bilateral
-usually identified on prenatal ultrasound, but in newborns may present as a palpable flank
mass
-renalgram will demonstrate the specific presence and location of the lesion
-treatment is surgical correction
Vesicoureteral reflux
-due to abnormal ureter length that results in urine reflux can be unilateral or bilateral
-usually presents with recurrent UTI (due to urine reflux); can also cause fetal
hydronephrosis but is a less common cause than obstruction of the ureteropelvic junction
-voiding cysturethrogram (VCUG) will demonstrate abnormalities in the ureter insertion site
-more severe abnormalities can cause distortion of the renal pelvis and calyces and large,
tortuous ureters
-treatment is antibiotic prophylaxis to prevent infection and surgical correction of severe
cases
-antibiotics of choice include amoxicillin for neonates and TMP-SMX for older children
-increased incidence in both genders prior to 1 year; after 1 year, incidence is femalepredominant (10:1) (onset after 1 year in a male should warrant a search for underlying
pathology, particularly if infections are recurrent)
-UTI is the most common site of infection in febrile infants generally
-UA should be obtained in all febrile patients younger than 1-2 years
-compared to cystitis, pyelonephritis presents with high fever (vs. low fever), chills, nausea,
vomiting, and flank pain
-cystitis typically presents with frequency, urgency, and dysuria
-diagnostic evaluation usually consists or UA, urine culture, and blood samples
-urine culture is the gold standard, but positive nitrites on UA are also suggestive of
infection
-preferred methods for urine collection: suprapubic tap > sterile catheterization >
clean catch
-bagged specimens are not useful for diagnosis of UTI due to high incidence
of contamination
-treatment is antibiotics and work-up to rule out causes that predispose to UTI
-all children younger than 2 years should receive US
-the presence of hydronephrosis on US should be followed-up with a VCUG
-appropriate antibiotic choices include amoxicillin, ampicillin, nitrofurantoin, and
TMP-SMX (5-7 days if culture-proven)
-pyelonephritis should be treated with a cephalosporin or ampicillin and gentamicin
or cephalosporin with a longer course (10-14 days)
-isolated cystitis is typically uncomplicated
-complications of pyelonephritis include perinephric abscess, renal scarring, and renal failure
Nephrotic syndrome
-disorder of the glomeruli characterized by proteinuria, reduced albumin, hyperlipidemia,
and edema
-most cases are idiopathic; common identified causes include infection, systemic disease,
drugs, malignancies, and genetic disorders
-by far the most common form is minimal change disease in children
-most common in children 2-6
-male predominance (2:1)
-typically presents with periorbital edema; children otherwise look healthy
-progresses to dependent edema, weight gain, and generalized edema
-gross hematuria and hypertension are typically absent suggests an
alternate diagnosis
-hallmark finding on diagnostic tests is severe proteinuria (1 g/m2/d)
-proteinuria is typically selective and consists largely of albumin
-hyperlipidemia is usually present (2/2 loss of lipases in the urine) but does not need
to be specifically tested for
-renal biopsy is indicated in children outside the 2-6 age range or those with unusual
findings (e.g., casts in the urine, severe renal insufficiency)
-in minimal change disease, the only abnormal findings on biopsy are loss of
podocyte foot processes (responsible for selectivity of the glomeruli)
-treatment is dependent upon the severity of the disease
-uncomplicated, primary nephrotic syndrome can be treated with salt restriction (to
prevent fluid overload) and steroids
-stronger immunosuppressants (e.g., cyclophosphamide, tacrolimus) may be
indicated if steroids are not effective
-renal biopsy is indicated if symptoms do not resolve after 8-12 weeks
-long-term complications are rare
-primary complication is bacterial infection, particularly by encapsulated organisms due to
loss of proteins (e.g., complement) in the urine
Glomerulonephritis
-due to inflammation of the glomeruli 2/2 deposition of antigen-antibody complexes
-multiple types, but commonly present with hematuria, mild proteinuria, oliguria, edema,
and hypertension
-red cell casts are detected in the urine
-proteinuria is much less severe than in nephrotic syndrome
-results in impairment of glomerular filtration and subsequent fluid overload
-flank pain may also be present due to swelling 2/2 inflammation
-evaluation should determine if true nephritis is present and differentiating among the
various types:
-low C3 suggests post-streptococcal glomerulonephritis
-chronically low C3 suggests lupus or membranoproliferative glomerulonephritis
-measurement of anti-streptolysin O and anti-DNAse can be used to confirm
streptococcal infection
-types of glomerulonephritis:
-acute post-streptococcal glomerulonephritis occur after throat or skin
infections with GAS
-elevated ASO and anti-DNAse with low C3 is common
-biopsy is not indicated as the nephritis is usually transient
-Henoch-Schonlein purpura presents after any type of infection
-systemic vasculitis characterized by a rash, crampy abdominal pain, and
arthritis
-C3 levels are typically normal, and IgA levels are elevated in half of patients
-nearly all cases recover without long-term impairment; intervention is not
necessary unless the case is severe
-IgA nephropathy due to IgA deposition in the renal mesangium
-a quarter of cases progress to renal failure
-typically presents with asymptomatic gross hematuria a few days after a
respiratory or GI infection
-severe disease requires treatment with immunosuppression; mild cases are
not treated
-rapidly progressive glomerulonephritis form of nephritis that is progressive
and results in renal failure and death
-crescent formation within glomeruli on biopsy
-rare in children requires strong immunosuppressant therapy due to high
morbidity/mortality
-Alport syndrome due to abnormal basement membrane collagen
-X-linked inheritance
-associated with sensorineural hearing loss
-diagnosis requires renal biopsy and demonstrates splitting of the basement
membrane
-ultimately progresses to complete renal failure with no treatments currently
available to alter the disease course
-benign familial hematuria characterized by asymptomatic microscopic or gross
hematuria
-due to thinning of the basement membrane
-normal renal function
-treatments, outcomes, and complications are as mentioned
Hemolytic-uremic syndrome (HUS)
-due to endothelial injury to the renal vasculature, resulting in microthrombi formation and
RBC shearing
-most cases are caused by infection with E. coli O157:H7 and bacterial production of Shigalike toxin
-typically presents several days after an episode of bloody diarrhea
-symptoms include pallor, jaundice, petechiae, and oliguria
-diagnosis is based on the triad of hemolytic anemia, thrombocytopenia, and azotemia
-Hb is usually less than 8 and platelets less than 100k
-presents in adolescence with a female body habitus, decreased body hair, gynecomastia,
and small phallus/testes
-most patients are infertile
-increased incidence of learning disabilities but cognitive ability is generally not impaired
Imprinting Disorders
-imprinting = development of different phenotypes from the same genotype due to variable
expression of genes based on paternal/maternal origin
-uniparental disomy = inheritance of both chromosomes from a single parent; can present as
these disorders
Prader-Willi syndrome
-associated with a deletion on chromosome 15 of paternal origin and duplication of maternal
chromosome 15
-syndrome is due to absence of a fully functional chromosome 15 of paternal origin
-presents with narrow head diameter; almond-shaped eyes; down-turned mouth; small
hands/feet; short stature; hypogonadotropic hypogonadism and incomplete puberty; severe
hypotonia; extreme appetite in later childhood leading to obesity; and mild retardation
-usually die of complications related to obesity
Angelman syndrome
-similar defect as Prader-Willi but the maternal (rather than paternal) copy of chromosome
15 is absent
-presents with maxillary hypoplasia; large mouth; short statue; severe mental retardation;
impaired/absent speech; inappropriate laughter; jerky arm movements; ataxic gait; and
tiptoe walking
Cytogenetic Disorders
Fragile X syndrome
-form of mental retardation that affects males and is due to a trinucleotide repeat in
the FMR1 gene
-name is derived from characteristic fracturing of the X chromosome that is evident on
cytogenetic analysis
-presents with testicular edema, large jaw and ears, and mental retardation (sometimes the
only manifesting symptom)
-female carriers may have learning disabilities
Chromosome 22q11 deletion syndrome
-characterized by a variety of abnormalities of the heart (TOF, aortic arch defects), thymus
(T cell deficiency, thymic aplasia, hypoparathyroidism), and nervous system (cognitive
disabilities, behavioral/speech disorders)
CHARGE syndrome
-acronym for typical presenting symptoms:
-coloboma (hole) of the retina or iris
-heart abnormalities
-atresia of the choanae
-retarded growth
-genital hypoplasia (males)
-ear abnormalities (deafness, inner ear anomalies)
-due to a point defect in the CHD7 gene
VATER syndrome
-exact defect not known but suspected to be a chromosomal disorder
-acronym for typical findings:
-vertebral anomalies
-anal anomalies
-tracheoesophageal fistula
-esophageal atresia
-radial/renal abnormalities
Fetal alcohol syndrome
-due to exposure to significant serum alcohol in utero
-typically presents with short palpebral fissures, a smooth philtrum, a thin upper lip,
hypotonia, poor growth, developmental delay, congenital heart disease, and renal
abnormalities
Metabolic Disorders
-due to protein defects in enzymes critical to metabolic processes, resulting in accumulation
of toxic metabolites
-symptoms present at different ages for different diseases:
-early childhood: urea cycle defects, organic academia
-errors in fatty acid oxidation and carbohydrate metabolism present after periods of
fasting, usually with hypoglycemia and lethargy
-lysosomal storage diseases typically present with progressive hepatosplenomegaly
and neurologic deterioration
Galactosemia
-caused by a deficiency in galactose-1-phosphate uridyltransferase (converts galactose into
glucose)
-deficiency results in galactose accumulation which causes end-organ damage
-presents with liver failure, renal dysfunction, emesis, anorexia, and poor growth
-cataracts may develop within 2 months if left untreated
-increased risk of developing E. coli sepsis
-older children develop severe learning disabilities
-females often develop premature ovarian failure
-diagnosis rests on detection of reduced RBC galactose-phosphate uridyltransferase
-treatment is elimination of all sources of galactose and initiation of a lactose-free, soybased diet
Glycogen storage diseases
-multiple conditions caused by deficiencies in enzymes involved with glycogen storage or
breakdown
-typically present with growth failure, hepatomegaly (glycogen storage site), and fasting
hypoglycemia
-most common types are type I (von Gierkes) and type V (McArdles)
Amino Acid Metabolism Disorders
Phenylketonuria
-due to inability to convert phenylalanine to tyrosine
-treatment is restriction of phenylalanine in the diet
-all states screen for PKU (not treating can lead to severe mental retardation)
Homocystinuria
-due to a block in conversion of methionine to cysteine and serine
-no symptoms in infancy first presents in childhood with a Marfan-like habitus (long, thin
limbs; scoliosis; sternal deformities; osteoporosis), dislocated eye lenses, mental retardation,
and systemic thrombosis
-treatment is pyridoxine (50% success rate) and dietary restriction
Ornithine transcarbamylase deficiency
-unusual due to being X-linked
-results in a defect in the urea cycle and the inability to process ammonia
-presents with lethargy and possibly coma/seizures following feeding with a protein-rich
meal
-diagnostic testing includes measurement orotic acid
-treatment is initiation of a low-protein diet and alternate nitrogen excretion pathways using
benzoic acid and phenylacetate
Lysosomal storage disorders
-in general, enzyme deficiency results in inability to degrade waste products within the
lysosome, resulting in build-up
-three important disorders:
-Hurler syndrome deficiency of alpha-iduronidase
-leads to accumulation of dermatan and heparan sulfates
-dacryocystitis (infection of the lacrimal gland) can be treated with warm compresses,
massage, and antibiotics (in some cases)
Ophthalmia neonatorum
-defined as conjunctivitis within the first month of life
-any discharge should be evaluated as tears are typically absent at this age
-common causes: chemical conjunctivitis (complication of birth or possibly antibiotic
treatment), Chlamydia, and N. gonorrhoeae
-typically presents with eyelid edema, conjunctival hyperemia, and ocular discharge
-treatment is based on the suspected etiology:
-gonococcal, HSV, or Pseudomonas infection should be managed by an
ophthalmologist
-conjunctivitis due to other causes can be managed with waiting and referral to
ophthalmology if symptoms progress
-erythromycin prophylaxis is standard during neonatal observation
Infectious conjunctivitis
-very common in children can be due to viral or bacterial etiology (adenovirus specifically
is a common cause)
-should differentiate from corneal abrasion (abrasion is visible with blue-filtered light
following drops of fluorescein)
-presentation is usually suggestive of etiology:
-mild pain with clear discharge, no itching, and diffuse injection is likely viral
-mild pain with mucopurulent discharge, no itching, and diffuse injection is likely
bacterial
-no pain with clear discharge and itching is likely due to allergies
-treatment is a trial of antibiotic drops/ointment for 5-7 days
-possible agents include polymyxin-bacitracin, TMP-SMX, sodium sulfacetamide,
erythromycin, and ofloxacin
-if no improvement, culture for specific guidance
Hordeolum and chalazion
-hordeolum = acute infection of the meibomian glands or sebaceous glands surrounding the
eyelid follicle
-usually caused by S. aureus
-treatment is with warm compresses no clear benefit with antibiotic eye drops
-chalazion = sterile granulomatous reaction within meibomian glands that may progressively
enlarge
-area is usually firm but non-tender
-treatment may require surgical drainage
-frequently recurrent prevent with good eyelid hygiene
Periorbital cellulitis
-caused by infection of the eyelids and surrounding skin anterior to the orbital septum
-most commonly due to S. pneumoniae, Moraxella, and H. influenzae
-must differentiate from orbital cellulitis, which usually presents with severe pain with eye
movement, proptosis, vision changes, and decreased ocular mobility (due to impingement
on ocular muscles)
-CT can confirm the diagnosis and can identify abscesses that may require surgical
drainage
-periorbital cellulitis presents with warm and tender induration of the skin around the eye
-treatment is immediate initiation of IV antibiotics depending upon possible source
-penicillinase-resistant penicillin or first gen cephalosporin recommended if a break
in the skin is identified
-cefuroxime is antibiotic of choice
-third gen cephalosporin can be used if spread to the meninges is a concern
-should complete a 10 day course of oral antibiotics following resolution of
symptoms
Chapter 20 Emergency Medicine
-if toxin exposure, removed contaminated clothing and decontaminate as soon as possible
Vascular access
-3 attempts at peripheral IV access in 90 seconds is appropriate; if attempts are
unsuccessful, interosseus line is indicated
-if acute bleed is present, control of the hemorrhage and resuscitation with blood is critical
Secondary assessment
-evaluation of SAMPLEs: signs and symptoms, allergies, medications, past medical history,
last meal, and events leading up to condition
-completion of thorough head-to-toe physical
Tertiary assessment
-additional studies that evaluate presence/severity of respiratory and circulatory
abnormalities
-tests include: ABG, lactate, VBG, central venous oxygenation, Hb concentration, pulse
oximetry, CXR, EKG, and peak expiratory flow as appropriate
Shock
-characterized by the inability of the circulatory system to provide adequate oxygen to
tissues to match demand
-typical compensatory responses include tachycardia and increased systemic vascular
resistance
-hypotension is a late finding and indicates impending circulatory demise
-important cardiovascular properties to consider:
-stroke volume = blood volume put out by the heart with one contraction;
dependent upon preload (amount of blood entering heart), afterload (pressure
against which blood presses when going out of the heart), and cardiac contractility
(strength of contraction)
-cardiac output = blood volume put out by the heart in 1 minute (stroke volume x
HR)
-blood pressure = cardiac output x systemic vascular resistance
-severity of shock generally falls into one of three categories:
-compensated = essential organ perfusion is maintained via compensatory
hemostatic mechanisms
-decompensated = failure of compensatory mechanisms and development of
ischemia, endothelial injury, and secretion of toxic compounds (may present as
altered mental status, weak pulses, tachypnea, decreased urine output, altered skin
color, metabolic acidosis)
-irreversible = shock that has resulted in irreparable organ damage with
measurable functional loss
-definition of hypotension in infants is dependent upon the childs age:
-0-28 days: SBP < 50
-1-12 months: SBP < 70
-1-10 years: SBP < 70 + (age x 2)
-10+ years: SBP < 90
-four different etiologies for shock:
1) hypovolemic due to decreased intravascular volume
-generally presents with weak pulses and prolonged capillary refill
2) cardiogenic due to inadequate stroke volume due to poor contractility or
arrhythmias
-if tachyarrhythmia is present, must differentiate between SVT (narrow QRS)
and VT/VF (wide QRS)
-hemodynamic instability requires immediate cardioversion of arrhythmias
regardless of type
-stable SVT can be managed with vagal maneuvers and/or adenosine
-stable VT can be managed with amiodarone or procainamide and correction
of underlying electrolyte abnormalities, if present
-VF should be treated with immediate electrical cardioversion
-risk factors include low birth weight, IUGR, prematurity, lower socioeconomic status, soft
bedding, obstructive materials in bed
-no association with apparent life threatening events (ALTEs)