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Pediatrics Notes:
Virginia Apgar, an anesthesiologist, developed the
APGAR score. Useful tool for immediate assessment of
the child. It is not used for later in life, only at
birth. Useful for determining progression of
resuscitation. APGAR is for appearance, pulse, grimace,
activity, and respirations. Score 0 to 3 at one minute
requires resuscitation. Do not wait for one minute
though. 4 can be poor also. Poor score at 5 minutes
does not predict subsequent cerebral palsy. Poor score
at 20 minutes predicts higher morbidity and mortality.
Score 8 to 10 is good. Scores 5 to 7 are fair. Newborn
is any child under the age of 28 days.
Newborn infants has a blue-gray pigmented lesion on the
sacral area. It is clearly demarcated and does not fade
into the surrounding skin. What is the most likely
diagnosis? Answer is Mongolian spot. They are more
commonly seen in dark-skinned races. Up to 5% of
Caucasian newborns will have it. Differential diagnosis
includes child abuse, so document Mongolian spots to
prevent subsequent issues. Bruises will fade into
surrounding skin; in that case consider child abuse.
Mongolian spots can occur on any part of the body,
typically seen on the buttocks or sacral area. They
fade in months to a year. Mongolian spots caused by
heightened receptor response to melanocyte stimulating

Newborn infant at birth is noted to have acrocyanosis,

a heart rate of 140, grimaces to stimulation, and is
active with a lusty cry. What is her APGAR score?
APGAR score 0: no heart rate, no respirations, no
muscle tone, no reflex irritability (e.g. bulb
suction), blue body. APGAR score 1: HR < 100, weak cry,
some extremity flexion, some reflex motion, pink body
blue extremities. APGAR score 2: HR > 100, vigorous
cry, arms/legs flexed, reflex cry/withdrawal, pink all

Erythema toxicum; is very common in newborns and should

be differentiated from staphylococcal scalded skin
syndrome (SSSS). Erythema toxicum does not appear in
the first day of life, usually shows in 2-3 days. It is
characterized by erythematous macules that can become
blisters or pustules. It is migratory, such that the
next day there may be clearing in some spots and new
erythema in other spots. Pustules of erythema toxicum
neonatorum (red rash of the newborn), if scraped, will
contain many eosinophils.

Staphylococcal scalded skin; may be present in the

first day of life, may present with pustules, skin will
start to peel off. If you scrap it, it will form a
blister like a burn (Nikolsky sign). Pustules will be
full of neutrophils. SSS babies will be ill, toxic in
appearance, can have sepsis. * Treat erythema toxicum
with reassurance of the parents.

* Sebaceous gland hyperplasia; looks like lots of

little whiteheads, in areas that are more oily like
nose. Treatment is to leave them alone.

* Milia; comes in fine-white (miliaria crystallina) and

red (miliaria rubra). Benign.
* Ebstein pearls are commonly seen in the mouth (mucous
membranes) along the midline, just a collection of
stratified epithelium and tends to go away. Do not
confuse with torus palatinus, an actual deformity of
the hard palate where it curves down. That is permanent
and can be covered by mucous membrane, cause no issues.
* Cutis marmorata; looks like cobblestone bloodvessels. Can occur when the baby is cold. It is
secondary to vasomotor instability. As they get older,
it gets better. Cutis marmorata telangiectasia
congenital does not go away as the child gets older.
Cutis marmorata sometimes seen in Down syndrome.
* Neonatal acne (acne neonatorum) is a heightened
receptor response to circulating estrogens. Usually
shows around a week to two weeks. Goes away, no need to
treat with acne medications.
* Newborn has a flat salmon-colored lesion on the
glabella, which becomes darker red when he cries. What
is the best course of management? This is a salmon
patch, also known as nevus flammeus. Best course of
management is reassurance of parents. This goes away as
the child gets older. Nevus simplex is also known as
stork bite.
* Salmon patch seen over the eyelids, bridge of the
nose, and back of the neck. Also known as a stork

bite (on the neck) or angel kisses (on the

* Nevus flammeus divided into salmon patch (goes away)
and port-wine stain (does not go away, hemangioma,
associated with Sturge-Weber syndrome. 50% of babies
are born with salmon patch. Facial lesions tend to go
away, neck lesions may stay but are covered with hair.
* Capillary hemangioma, also known as strawberry
hemangioma usually starts as flat macular lesion. May
get larger during first few months of age, raised
lesion. After first year of life, they tend to regress
slowly. In general, there is no need to go cut them out
as this results in bleeding since they are a collection
of blood vessels. No need to do laser treatment either.
Only do treatment if the lesion is over a vital
* Baby presents with capillary hemangioma on the skin
and stridor. Think about subglotic hemangioma.
* As capillary hemangiomas get better, they start to
turn bluish and get boggy like an abscess.
* Nevus sebaceous (nevus of Jadassohn) is present at
birth. It is salmon fleshy colored and there will be no
hair growth coming through the lesion. They are only
seen on the scalp. Treatment is to follow until
adolescent age and then remove. There is some minor
risk of malignancy, so remove after child is no longer
* Caf-au-lait are light-brown in color (coffee with
milk) and also known as giraffe spots. They may or
may not be associated with underlying diseases
(neurofibromatosis, McCune Albright syndrome, Von
Hipple Lindau).

* Harlequin baby will have redder skin closer to the

ground/gravity. This is due to vasomotor instability.
Birth Trauma:
* Cephalhematoma is a collection of fluid underneath
the bone. Must be differentiated from caput hematoma. A
cephalhematoma is a subperiosteal bleed, since it is
beneath the bone it is limited by the bone, thus it
will not cross the suture lines. A caput is a scalp
swelling so it does cross suture lines.
* Cephalhematomas tend to get worse over a few days and
can take weeks to months to resolve. As the resolve,
you can feel the volcano rim or crater, which is the
edge of the cephalhematoma. Even if they are bilateral,
they will not cross the suture line so you should be
able to feel a groove in between the hematomas.
* Caput hematomas starts to get better as soon as the
baby is delivered.
* Differential diagnosis of a cephalhematoma includes a
depressed skull fracture.
* Subcutaneous fat necrosis is a type of birth injury.
Associated with birth trauma or forceps use. Will be
firm rubbery nodules, can be seen anywhere like cheeks,
buttocks, back, extremities.
* Brachial palsies occur with stretching of the
brachial plexus, such as forceps or arm pulling.
* Erb-Duchenne palsy involves C5-C6 and arm will be
internally rotated, wrist flexed, waiters tip or
secret smoker. Ipsilateral hemi-diaphragmatic
paralysis means C4 is also affected.

* Klumpke palsy involves C8-T1 and hand will have

fingers flexed, claw hand. If sympathetic fibers of
T1 are affected the child may have a Horner syndrome.
Horner is anhidrosis, ptosis, myosis. Horner is a guy
whose forehead is dry, cant see the sky, and has a
small eye.
* Facial palsy will have no ipsilateral movement with
crying. These palsies tend to be fairly mild and
* Clavicle is the most commonly fractures bone during
delivery. Babies tend to be large for gestational age,
such as when the mother has gestational diabetes.
Shoulder dystocia during delivery predisposes to
fracture. Baby may not move their arm well or has an
asymmetric Moro response or mother notices a lump
(callous already forming). For the most part, these fix
themselves, no need to splint in a figure-of-eight. May
feel crepitus on affected side.
* Subconjunctival hemorrhages are temporary. You see
blood in the eye, due to birth pressure.

Congenital Anomalies:
* Coloboma is a defect in the iris, may look like a
keyhole, also known as latch key eye. Can have a
coloboma of the eyelid, choroid, or retina.
* Aniridia is lack of iris, usually bilateral. Baby
will not have a colored part of the eye. Aniridia plus
hemi- hypertrophy is associated with Wilm's tumor.
* Congenital cataract will have no red-reflex on the
affected side. Eye appears cloudy, there is an opacity

in the lens. Baby may be born with cataract or be

developing it due to something like galactosemia.
* White reflex implies retinoblastoma until proven
otherwise. Red reflex and be red or orange or tan.
* Pre-auricular skin tags are generally a normal
variant. There is a slightly higher association with
cleft lip/palate.
* Pre-auricular dimple or pit is a normal variant.
There is a slightly higher association with hearing
* Microtia is grossly malformed misshapen ears. Much
higher association with renal abnormalities (e.g.
* Macroglosia is huge tongue, can obstruct the airway
and cause feeding difficulties. Can be seen in Down
syndrome, Beckwith-Weidemann Syndrome, or a normal
* Ankyloglossia also known as tongue tie at the
bottom of the tongue. Generally no need to intervene.
Do not snip the attachment as there is an artery that
runs through this area. If baby can get tongue to edge
of gums (most can) they will be able to nurse well and
speak well.
* Branchial cleft cysts are generally unilateral and
can become infected, drain, require antibiotics, and
sometimes need to be closed or removed.
* Congenital torticollis also known as wry neck is
balling-up of sternocleidomastoid. Child will keep its
head to the side. You may be able to feel a knot on
that side of the neck. Treat with passive range of
motion, moving head to opposite side. Some torticollis

patients may have a hemi-vertebra in the neck

associated with certain syndromes.
* Breast hypertrophy is due to heightened response of
receptors to circulating hormones. It goes away as the
baby gets older. There may even be discharge from the
* Supernumerary nipples (polythelia) will be anywhere
along the mammary milk lines. There is an association
with renal and cardiovascular anomalies. Most people
with polythelia do not have problems though.
* Poland syndrome is absence of the pectoralis muscle
with amastia on that side, can have rib deformities,
webbed fingers, and radial nerve aplasia.
* Pectus excavatum also known as funnel chest and
pectus carinatum also known as pigeons chest. These
are normal variants and should be left alone. Very
rarely do they cause cardiac problems, such as cor
pulmonale from pectus excavatum. Most common reason for
having them fixed is cosmetic.
* Polycystic kidney is the most commonly palpated mass
in the abdomen of a neonate. Next most common is likely
a large bladder, maybe secondary to posterior urethral
* Umbilical hernias are commonly seen. This is
incomplete closure of the fascia umbilical ring. Old
school myth was to put a large coin on it and tape it
down. Treatment is to leave it alone. After about a
year, they will have closed either way (coin taping or
leaving it alone). Nearly all close by age 5.
* Omphalocele is due to embryologic development.
Intestines come out in-utero, do 270-degree flip, and

come back in. In omphalocele, the intestines did not

come back in. There is a sac -cele with this
deformity. This is a midline defect and is a surgical
emergency. Generally, this is diagnosed on ultrasound
so the surgical team is ready at birth.
* Gastroschisis does not have a sac. This is usually
to the right of the umbilicus. Since it is not
contained, there is a much higher risk for volvulus and
malrotation. More likely to have ischemia.

Surgical emergency:
* Imperforate anus can occur. Never take a newborns
temperature with a rectal thermometer as this could
perforate the anus. Symptoms include no defecation
within the first 24 hours of life.
* Epispadias is urethral meatus opening on the dorsum
of the penis. Hypospadias is on the ventral side. Right
below the tip of the glans is a first-degree, along the
shaft is a second-degree, and at the base of the shaft
is third-degree hypospadias. Usually there is a hooded
prepuce seen in hypospadias or isolated chordae.
Hypospadias is a contraindication for circumcision as
all the tissue will be needed for the repair.
* Retractile testicle means there is an active
cremasteric reflex, where testicle slides up with
touching or cold temperature. Undescended testicle
means it is not palpable or is palpable in the inguinal
canal but cannot be brought down. If it is undescended
at one year of age, it has to be surgically brought
down as there is a higher risk of malignancy and will
become atrophic.

* Ebstein pearls can also occur on the penis; anywhere

with mucous membranes.
* Hydrocele suspected with enlarged scrotum. Can be
transilluminated. Hernias reduce, hydroceles do not.
* Syndactyly is when fingers do not separate in
development. X-ray to determine if 1 or 2 fingers. If 2
fingers, surgery may be considered.
* Polydactyly is extra fingers. If there is a well
developed bone with vascular supply, consider leaving
finger. If no bone present in extra finger or just a
stalk, tie-off with a suture and it will auto-amputate.
* Amniotic band occurs when there is a little tear in
the amnion in-utero and the baby gets its finger
through. When the amnion heals up, it compresses and
creates a band. Could cause phocomelia where entire arm
is deformed.

Neonatal Screening Tests:

* One-month old fair-haired fair-skinned baby presents
with projectile vomiting of 4-days duration. Physical
exam reveals a baby with eczema and a musty (mousy)
odor. Which screening test would most likely be
abnormal? This baby presents similar to pyloric
stenosis. This is phenylketonuria (PKU).
* Major three for screening are PKU, galactosemia,
hypothyroidism. Some places will test for maple syrup
urine disease or sickle cell anemia.
* PKU is a defect in the hydroxylation of phenylalanine
to tyrosine. It is autosomal recessive. What are the
chances that this family will have another affected

child? Answer is 1 in 4. Occurs in about 1:10,000 live

* In PKU, babies are normal at birth. Mental
retardation is the most common manifestation. Commonly
seen in fair- haired, fair-skinned, blue-eyed
population. Rash looking like atopic dermatitis or
eczema may be present.
* Screening test for PKU is best done at 48-72 hours
after starting to take in protein.
* If positive PKU screening test, then do blood levels
of phenylalanine (high) and tyrosine (normal levels).
* Treatment for PKU is dietary, low phenylalanine
formula and then low phenylalanine diet. Avoid things
like aspartame (sugar substitute), which is common in
diet drinks.
* Complications include mental retardation,
microcephaly, and congenital heart disease.
* Galactosemia is a defect in galactose-1-phosphateuridyltransferase. Patients are unable to metabolize
galactose and the levels will accumulate in the kidney,
liver, and brain. It is autosomal recessive.
* Duarte variant of galactosemia is asymptomatic, no
clinical significance.
* Babies will have a variety of symptoms including
vomiting, jaundice, hypoglycemia, seizures, cataracts
(due to galactitol in lens), enlarged liver or spleen,
gain weight poorly, high risk of E. coli sepsis.
* Treatment is to eliminate galactose from the diet.
One of the few contraindications to breast feeding,
should use soy formula. Although they are treated,

babies tend not to do as well, may have developmental

delay or speech and learning problems.

Maternal Diabetes:
* You are called to see a 9.5lb newborn infant who is
jittery. Physical exam reveals a large plethoric (red,
ruddy) baby who is tremulous. A murmur is heard. Blood
sugar is low. This is a baby born to a mother with
diabetes or who developed gestational diabetes.
* Babies tend to be macrosomic (big baby). Babies tend
to develop hypoglycemia because they have high
circulating levels of sugar in-utero so the baby
overproduces insulin. Once born, the increased insulin
and lack of maternal sugar leads to hypoglycemia.
Insulin works as a growth hormone, so not only is the
baby getting lots of calories it is hormonally enhanced
in size.
* Since they are large for gestational age, they can
get birth trauma such as broken clavicle or shoulder
* Along with hypoglycemia, they can get hypocalcemia
and hypomagnesemia. Sometimes they will have
respiratory distress syndrome because insulin can block
surfactant production.
* Infants of diabetic mothers are at higher risk for
hypertrophic cardiomyopathy. In general, they will get
better over time, by about 6 months of age.
* Infants can get hyperbilirubinemia and polycythemia.
At higher risk for other congenital anomalies like
ventricular septal defects, atrial septal defects, and
transposition of the great arteries. At higher risk for

lumbosacral agenesis and specifically small or lazy

left colon, which can appear like Hirschsprung or
meconium ileus.
* Treatment is to control mothers blood sugar while
fetus is in-utero. After birth monitor the babies and
treat hypoglycemia until they adjust their insulin
* Complications include diabetes and obesity
development as children.

Size For Gestational Age:

* Most scales to determine if child is appropriate
for age include a physical scale and neuromaturation
* Ballard scale (Dubowitz is another), looks at
muscular maturity, posture, skin, lanugo, plantar
creases, breast development, ear stiffness, genitalia,
etc.. Repeat exam 24 hours later, helps compensate for
things like depressant medications taken by mother.
Premature babies will have floppy ears because stiff
cartilage has not developed.
* Small for gestational age does not matter if baby is
pre-term, term, or post-term. Only says if the size is
appropriate for that particular gestational age.
* Shiny skin in a baby implies little subcutaneous
tissue, so there was not enough time to develop the
* Labia majora being wide and not covering labia minora
is also a sign of prematurity.

* As male gets to term, scrotum gets darker, more

wrinkles, and testes descend into scrotum.
* Lots of lanugo hair implies pre-term.
* Flexion a both hips and knees is a good sign. Arm
flexion as well. Lusty cry is good.
* Most babies start to peel at two-weeks of age. No
need to put lotion on it, leave skin alone. A post-term
baby may have peeling at birth and longer nails.
* Term infant weights 4lbs at birth. Physical exam
reveals a small infant with a disproportionally large
head. The mother has a history of smoking during
pregnancy (risk of prematurity, IUGR). This baby is
small for gestational age, intrauterine growth
restriction (IUGR). Small for gestational age is below
the third percentile for that particular gestational
* Symmetric means the baby is the same proportions.
Asymmetric is when the head is bigger than the body,
these babies have a better prognosis. It implies that
the brain has been spared.
* IUGR is associated with any factors that decrease
oxygenation to fetus including chromosomes, TORCH
infections, congenital anomalies, irradiation, insulin
deficiency. Placental factors include small placenta,
infracted placenta, partial abruption, twin to twin
transfusion. Maternal factors include toxemia of
pregnancy, hypertension, malnutrition, tobacco use,
narcotic use, alcohol use.
* Ballard scoring helps to determine gestational age,
then weight and plot out baby.

* IUGR babies are at higher risk of cold stress (not

enough fat) and hypoglycemia (no glycogen stores).
* Small for gestational age (SGA) babies at risk for
polycythemia because they have more hypoxia and produce
more hemoglobin and cells.

Neonatal Drug Withdrawal :

* A two day old infant is noticed to have course
jitters and is very irritable, with a high-pitched cry.
A low grade fever is reported as well as diarrhea.
Maternal history is positive for heroin use.
* Moms will say as soon as I heard I was pregnant I
quit doing drugs. Do not believe them, drug test.
* Most common illicit drugs that a baby goes through
withdrawal from are narcotics and cocaine.
* You can urine drug screen the baby as well.
* Heroin has a shorter half-life than methadone so the
babies will withdraw sooner. Heroin a couple of days,
methadone a couple of weeks.
* Hyperactivity, irritability, fever, diarrhea
(classic), fussy baby, inconsolable, always sucking,
think withdrawal.
* Phenobarbital takes a couple of weeks for withdrawal
* Treatment is put child in long acing narcotics (e.g.
methadone) and slowly wean baby. Minimize stimulus,
swaddle baby, wrap up baby they like to be held tightly
and closely.

* Complications of neonatal drug withdrawal is low

birth weights, higher risk for anomalies, higher risk
for sudden infant death syndrome, and higher risk for
mothers complications of drug use (e.g. hepatitis,

Respiratory Diseases:
* Shortly after birth, a 33 week gestation infant
develops tachypnea, nasal flaring, grunting, and
requires intubation. Chest radiograph shows a hazy
ground-glass appearance of the lungs. Suspect
respiratory distress syndrome (RDS). This is secondary
to surfactant deficiency, seen almost exclusively in
preterm babies.
* Surfactant decreases surface tension, preventing
alveoli from collapsing. So lack of surfactant causes
alveoli to collapse leading to atelectasis. The
atelectasis leads to the ground-glass haziness.
* Blood gases will be poor due to ventilation-perfusion
mismatch caused by the atelectasis.
* Valsalva maneuver increases pressure in the chest and
helps to keep alveoli open. When child needs to let out
the air to breath in, they will grunt.
* Usually it takes about three days for child to get
better. One of the first signs of improvement is
dieresis. No real diagnostic test for RDS, more of a
clinical diagnosis with help from the x-ray. Aside from
the poorly demarcated heart border and haziness, there
may be air bronchograms.
* Treatment of RDS starts with prevention, getting baby
to term and giving mother steroids to help mature the

babies lungs. Can treat newborn with surfactant,

ventilate if needed, give fluids if needed, antibiotics
if needed.
* Complications include pneumothorax, plugging,
intraventricular hemorrhages, sepsis, pulmonary
interstitial emphysema, chronic lung disease
(bronchopulmonary dysplasia).
* Transient tachypnea of the newborn (TTN), similar to
RDS symptoms but with a term baby. Associated with a
rapid second stage of labor or Cesarean section as baby
does not get the birth squeeze that helps production of
surfactant. Baby will have tachypnea, may require a
little oxygen, fairly clear x-ray, tends to go away in
a few days.
* Meconium aspiration syndrome has symptoms of
respiratory distress but with history of meconiumstained amniotic fluid. Seen in term babies. Rupture
membranes with meconium is a clue, meconium under the
babys fingernails or around the umbilicus is another
clue. CXR is typical of aspiration pneumonia. Meconium
is like thick pudding, supposedly sterile but can cause
pneumonitis and air-trapping if it get into the lungs.
* Air-trapping in the lungs leads to hypoxia. This
causes vasodilation everywhere in the body except the
lungs. In the lungs, hypoxia causes vasoconstriction,
leading to shunting. In newborn, the shunting goes
through a patent ductus arteriosus or foramen ovale.
This causes more deoxygenated blood to go out into the
body, causing more hypoxia, further vasoconstricting
the pulmonary vessels, which can cause persistent fetal
circulation or primary pulmonary hypertension of the

* Treatment for meconium aspiration is to prevent it

with good suctioning of the oropharynx once the head is
delivered. New recommendations is not to intubate
babies and suction them unless they are having severe
respiratory problems with cyanosis. Prevention of
hypoxia includes good ventilator management, pulmonary
vasodilators such as nitric oxide, and sometimes
extracorporeal membrane oxygenation (ECMO).
* Diaphragmatic hernia and choanal atresia are uncommon
causes of respiratory distress.
* With respiratory symptoms, always think about the
heart and worry about metabolic acidosis, hypoglycemia,
hypothermia. Others include hemorrhage, edema, drugs,
twin-twin transfusion, and hyperviscosity.
* Diaphragmatic hernia symptoms are child with
respiratory distress, scaphoid abdomen (flat or
sunken), bowel sounds in the chest, x-ray showing
gastric air bubble or bowel above the diaphragm.
* Treatment for diaphragmatic hernia in infant is
surgical. Once surgery is completed, problem is that
the affected side (almost always left) is not very well
developed, pulmonary hypoplasia. Shift of thoracic
contents to the contralateral side (right) leads to
poor development of that lung as well.

Jaundice In The Newborn:

* Indirect bilirubin is 11.2, direct is 0.4, physical
exam is unremarkable except visible jaundice.
* Neonatal jaundice occurs when indirect bilirubin is
deposited in the skin. Hyperbilirubinemia is

physiologic or pathologic. Bilirubin is described as

conjugated (direct) or unconjugated (indirect).
* Physiologic jaundice is high unconjugated.
* Major source of bilirubin is hemoglobin, also
myoglobin and cytochrome-oxidase system.
* Infants who are hypoxic in-utero will make more
hemoglobin, so when born they may have hemoglobins if
18 or 19, higher circulating red blood cell volumes,
shorter lasting red cells (60-90 days). As these RBCs
die off there is a load of hemoglobin released,
immature liver cannot handle this so it gets stored in
the skin.
* Physiologic jaundice is jaundice that does not
present in the first day of life, does not go high (max
12.9-15), peaks around the 3-5 day mark, goes away
about 7-10 days. Preterm babies are given 10-14 days to
resolve physiologic jaundice. No treatment needed
* Breast milk jaundice usually presents by one-week of
age, non-esterified fatty acids displace the bilirubin
from the albumin molecule leading to yellow baby, no
treatment needed.
* Babies with conjugated hyperbilirubinemia and claycolored acholic stools, suspect biliary atresia.
* Work-up jaundice by getting bilirubin level with
conjugated and unconjugated, hemoglobin, and blood type
of both baby and mother.
* Phototherapy is good for unconjugated
hyperbilirubinemia, photo isomerizes it to a form that
is easier to metabolize. Do not put a baby with direct
(conjugated) hyperbilirubinemia under light therapy or
they will get bronze baby syndrome.

* Exchange transfusions can be used if child is still

hemolyzing after light therapy, usually for Rh
* ABO incompatibility is more common than Rh, but it
is milder. Rh incompatibility is preventable by giving
mother Rh immune globulin (RhoGAM).
* Genetic disorders causing jaundice include
spherocytosis, G6PD, pyruvate kinase defect,
hemoglobinopathies (thalassemias), galactosemia.
* G6PD usually presents later, once exposed to
oxidizing agent, fava beans, antimalarials, dapsone,
moth balls.
* Jaundice can come from extravascular blood such as
petechiae, hematoma, pulmonary or cerebral hemorrhages,
and swallowed blood. Example would be facial bruising
during a difficult delivery, like face to pubis
* Jaundice can come from polycythema such as maternalfetal transfusion, twin-to-twin-transfusion, or
placental transfusion (cord stripping toward baby).
* Mechanical obstructions can cause jaundice, such as
atresia, stenosis, Hirschsprung, meconium ileus,
meconium plug syndrome.
* Under-secretion jaundice with Gilbert syndrome,
Crigler-Najjar syndrome.
* Other jaundice causes are TORCH infections,
hepatitis, prematurity, infants of diabetic mothers.
* In twin-to-twin-transfusion, larger baby has higher
risk for jaundice and higher risk for problems.

* Phototherapy can cause some diarrhea, but thats

alright because theyre removing the bilirubin.
* Double volumes transfusions help to remove
circulating antibodies, remove bilirubin, and increase
* Erythroblastosis fetalis (hydrops fetalis) occurs
with hemolysis in-utero, low hemoglobin high output
failure, causing anasarca and death.

Neonatal Sepsis:
* A 3week old infant presents with irritability, poor
feeding, temperature of 102F, and grunting. Physical
exam reveals a bulging fontanelle and delayed capillary
* Sepsis is a systemic response to infection. Divided
in newborns into early onset and late onset. Early
onset is within the first 7 days of life. Late onset is
8-28days of life.
* Neonatal sepsis risk factors include maternal
infection, prematurity, prolonged rupture of membranes.
* Most common bacterial cause of neonatal sepsis is
group B strep (GBS). E. coli and listeria are distant
second and third. Initial choice of antibiotics covers
all three.
* Viral causes of neonatal sepsis include herpes
simplex and enteroviruses.
* Signs and symptoms are non-specific, grunting,
fussiness, poor feeding, tachypnea, respiratory
distress, apnea.

* Newborns do not always have fever. Sometimes they

will present with hypothermia or temperature
* Neonates with fontanels usually do not present with
nuchal rigidity as the pressure can go to the
fontanelle, causing it to be fuller/bulging.
* Work-up includes CBC, lumbar puncture to rule out
meningitis, blood culture, urine culture, skin lesion
culture, chest x-ray to rule out pneumonia.
* Treatment is antibiotics (ampicillin + 3rd generation
cephalosporin), fluid management, attention to details.
* Antibiotic choice could also be ampicillin +
aminoglycoside. Worry with aminoglycoside about
nephrotoxicity and ototoxicity. Follow aminoglycoside
levels and do hearing screens later on.
* Penicillin or ampicillin given to mother at least 4
hours prior to delivery will reduce the risk of
neonatal sepsis from group B streptococcus.
* Differential includes respiratory diseases, metabolic
diseases, intracranial hemorrhage, TORCH infections.

Transplacental Infections:
* TORCH: Toxoplasmosis, Other (syphilis, varicella),
Rubella, Cytomegalovirus, Herpes simplex virus.
* Majority of TORCH infections occur when mother is in
the first or second trimester.
* Toxoplasmosis is transmitted by ingesting undercooked
or raw infected meat. It is also found in cat feces,
infection transmitted from handling used kitty litter.

* Toxoplasmosis can be mild in the adult, but the

problem is when the baby catches it via the mother.
* Signs include intracranial calcifications, 40%
infection rate if during 1st or 2nd trimester, IUGR,
microcephaly, spasticity, seizures, blindness,
retinitis, hepatosplenomegaly (HSM).
* Diagnosis is via isolation from placenta or cord
blood, TORCH IgM titers, IgM ELISA. Toxoplasmosis
immunosorbent agglutination assay can be used.
* Treatment of toxo during pregnancy is spiramycin or
pyrimethamine + sulfonamide. Postnatal (baby) treatment
is pyrimethamine + sulfadiazine + leucovorin for six
months. Leucovorin decreased the problems with bone
marrow suppression seen in chronic sulfa drug use.
Steroids for chorioretinitis.
* Cytomegalovirus (CMV) is the most common congenital,
40% transmission to baby.
* Symptoms include SGA, petechiae, HSM,
thrombocytopenia, direct hyperbiliribunemia.
* Culture urine, blood, CSF, throat, placenta. Look for
periventricular calcifications (in brain).
* CMV causes chorioretinitis as well. Calcification
around periventricular area. V in CMV and
* No treatment for CMV, usually babies do not do well,
get mental retardation, microcephaly, liver problems.
* Varicella (chickenpox) is divided into neonatal
(delivered within a week before or after maternal
disease onset) and congenital.

* Neonatal treated with varicella zoster immune

globulin (VZIg), if the mother develops the disease 5
days before to 2 days after delivery. Give acyclovir as
well. This is more serious because the mother has not
developed antibodies.
* Congenital varicella associated with limb-hypoplasia,
scaring, microcephaly, chorioretinitis. Give acyclovir.
* Rubella has an 80% transfer rate if mother is
infected in first trimester.
* Rubella clinically causes mental retardation,
microcephaly, heart defects (PDA, pulmonary stenosis),
cataracts, HSM, thrombocytopenia, deftness, blueberry
muffin baby.
* Blueberry muffin due to purpuric lesions from
thrombocytopenia, add jaundice and it looks like the
* Diagnose via IgM titers for rubella. Prevention is to
immunize mother prior to pregnancy. Anyone born after
1957 should receive a second MMR vaccination.
* Herpes simplex is acquired during passage through the
birth canal. C-section not 100% for preventing HSV.
* Primary disease is when
for the first time, so no
transmission to the baby.
there is low transmission

the mother gets the disease

antibodies, thus lots of
With recurrent genital herpes

* Delivery can be vaginal if culture is negative and no

lesions seen. Do C-section if any lesions or PROM.
* Local HSV is present at 5-14 days on skin, eyes,
mouth (SEM). Disseminated HSV presents at 5-7 days with

pneumonia, shock, hepatitis. CNS HSV presents at 3-4

weeks with lethargy, seizures, instability.
* If the CSF tap comes back clean but HSV symptoms,
the tap is not clean. Think HSV.
* SEM (local) HSV has about a 95% chance of normal
development. Disseminated is about 60%. CNS is about
35%, with only 5% if seizures present. Mortality is
high with disseminated especially with pneumonitis.
* Treatment of HSV is with acyclovir.
* Syphilis is divided into early (first 2 years of
life) or late manifestations.
* Symptoms of early syphilis are fever, anemia, FTT,
maculopapular rash, snuffles (runny nose), HSM.
* If youre suspecting syphilis and baby has glistening
snuffles below nose, thats not boogers, thats
treponems, you better put on a glove. Thatll be hard
to explain, how you got syphilis from a baby.
* Late stage manifestations include periostitis, saber
(shaped) shins, Hutchinson (notched) teeth, saddle
nose, rhagades (linear scars at angle of mouth),
Clutton joints (symmetric joint swelling), JarischHerxheimer reaction (fever and rash with penicillin,
systemic reaction to treponems being killed).
* Diagnosis with RPR and FTA-ABS. Dark field microscopy
can be done too.

* A newborn is noted to have choking and gagging with
its first feed, then develops respiratory distress.

Chest x-ray shows an aspiration pneumonia and a feeding

tube coiled in the esophagus. This is a
tracheoesophageal fistula (TEF). There are various
kinds, most common is esophagus into a blind pouch and
a fistula into the trachea distally.
* TEF associated with prenatal history of
* Diagnosis is clinical. Treatment is surgical repair.
* Look for other abnormalities, such as congenital
heart disease such as a PDA, vascular rings,
coarctation. Look for vertebral anomalies, anal-rectal
anomalies, renal issues. Mainly look at the heart.
* Double-bubble sign seen in duodenal atresia. History
will be bilious vomiting. Higher association with Down
* Hirschsprung disease (also called congenital
aganglionic megacolon) should be suspected in any
newborn that has not passed stool in the first 24-48
hours. Also consider imperforate anus, meconium plug,
and meconium ileus. On barium enema, the enlarged area
is normal. The thing area is where the problem is,
stool backs up proximally.
* Gold standard (best test) for diagnosis for
Hirschsprung disease is colon biopsy looking for
aganglionic area.
* Necrotizing enterocolitis (NEC) is the most common
medical and surgical GI emergency of the newborn. Look
for a history of a preterm infant and perinatal
asphyxia (low APGAR scores). As baby gets fed, they get
bloody stools or starts to get distended, lethargic.

* Most appropriate test is an abdominal film, looking

for pneumatosis intestinalis. Pneumatosis intestinalis
is air inside the bowel wall (not just in the bowel
lumen). Air inside the bowel wall implies NEC.
* Treatment for NEC is bowel rest, antibiotics, and
sometimes surgery to remove parts of bowel if it gets

Neonatal Seizures:
* In the newborn intensive care unit (NICU), a
newborn is noted to have sucking movements, tongue
thrusting, and brief apneic spells. The blood counts
and chemistries are normal.
* Neonatal seizures do not generally presents with
tonic/clonic seizures like they do in older adults.
* Causes of neonatal seizures include hypoxic ischemic
encephalopathy (most common). Seizures typically
present at 12-24 hours after birth.
* Intraventricular hemorrhage usually presents with
seizures after 24hours. Think respiratory distress
syndrome or prematurity as cause of intraventricular
* With intraventricular hemorrhage, may see bulging
fontanelle or bloody spinal that that does not clot.
Clotting would imply a traumatic tap, not clotting
would imply intraventricular hemorrhage.
* Ultrasound or CT scan of head for diagnosis.
* In seizures, always check metabolic causes. Always
check a blood sugar. Hypoglycemia can cause seizures

and is easily correctable. Hypocalcemia can also cause

* Focal seizures present with rhythmic twitching,
usually of the face and extremities. Multifocal clonic
involves many muscle groups. Tonic (stiff) and clonic
* Subtle seizures present with tongue thrusting and
apneic spells. This is more common in newborns than say
a tonic-clonic seizure.
* Diagnostic tests for seizures include blood sugar,
electrolytes, EEG, CT or ultrasound of head, lumbar

* Any female of childbearing age who is going to go
on isotretinoin for their acne must get a pregnancy
test and to be told not to get pregnant. Can cause
facial and ear anomalies, congenital heart disease.
* Phenytoin can cause characteristic facies,
hypoplastic nails, Cupids bow mouth.
* Thalidomide causes limb abnormalities.
* Tetracycline causes enamel hyperplasia and teeth

Newborn Resuscitation:
* You are called to attend the delivery of a 22yo
G1P0. She has been followed in the prenatal clinic and
all cultures are negative. The patient is term and
meconium is visualized.

* Newborns past medical history is the moms history.

Ask about medications the mother is taking. Ask how
many babies are being born.
* Resuscitation in the neonate includes twin gestation,
prematurity, and meconium.
* In children who need resuscitation, it is usually
caused by accidents or illnesses particularly
respiratory disease. The majority of codes in children
are respiratory in nature, ensure airway management.
* 1996 JAMA article Cardiopulmonary Resuscitation on
Television - Miracles and Misinformation portrays
successful resuscitation in the majority of cases. This
type of information can lead the general public to
believe resuscitation is far more successful than it
really is (majority die if resuscitation efforts are
* Hypotension is a bad sign. This implies compensatory
mechanisms (e.g. catecholamines) have been used up.
* In children, the younger you are the faster your
heart rate and respiratory rate.
* Treatment is ABC: airway, breathing, circulation.
Temperature is important also.
* Airway: is the airway patent? Do I need to intubate?
* Breathing: are the retractions, grunting, nasal
* Circulation: heart rate? Blood pressure? Skin color?
Urine output? Capillary refill?
* Newborn intubation blade is 0 or 1 (Miller).
Endotracheal tube (ETT) about size 3. ETT = (age +

16) / 4. In children under 8-years of age, it is

recommended that an uncuffed ETT be used.
* Do not do Heimlich maneuver on children under age 1,
do back slaps. No blind finger sweeps on anybody.

* A nursing mother asks if her 3 month old baby
requires any vitamin supplementation. Answer is no.
What about fluoride, vitamin D, iron? Not yet.
* Age 0-12 months is 100kcal/kg/day, 2.5-3gm/kg/day
* Age 1-7 years is 75-90kcal/kg/day, 1.5-2.5gm/kg/day
* Age 7-12 years is 60-75kcal/kg/day, 1.5-2.5gm/kg/day
* Age 12+ years is 30-60kcal/kg/day, 1-1.5gm/kg/day
* Breast is best, human breast milk is the best a
baby can have. Recommended that it be used exclusively
for up to six months. Breast milk plus baby foods up to
a year of age. After 1 year, tend to go off breast milk
to whole milk.
* Advantages of breast milk include convenience (premixed, right temperature), no sterilization required,
maternal- infant bonding, less frequent
hospitalizations, possible increase in IQ, optimal
absorption of nutrients/vitamins/trace elements,
possible protection from allergen exposure, much less
obesity risk.

* Breast milk has IgA, lactoglobulins, maternal

macrophages. Less risk of URIs and otitis media.
* Breast feeding is not a contraceptive method (myth).
It does allow mother to return to preconception weight
faster as mother is losing an additional 500 calories a
day by nursing. Uterus regresses to normal size faster
* Part of newborn care is administering vitamin K (1mg
IM) to prevent hemorrhagic disease of the newborn.
Vitamin K is made in the gut with the help of bacteria,
which newborns do not have.
* Vitamin K is present is breast milk. Fluoride is
recommended after 6 months of age. Fluoride is also
recommended if you are using ready-to-feed formula. If
you are mixing formula with water, you have to know
what the local water supply contains (fluoride or not).
Vitamin D to baby only if mother does not have adequate
vitamin D intake, example would be cultures that are
fully clothed and do not get enough sun exposure for
vitamin D conversion. Iron fortified foods given at 4-6
months of age.
* Few contraindications to breast feeding, such as
active TB, syphilis, HIV, varicella, galactosemia,
herpes if active lesions on the breast.
* Drug affecting breastfeeding include atropine,
anticoagulants (heparin safe), antithyroid drugs,
antimetabolites, cathartics (except senna),
dihydrotachysterol, iodides, narcotics, radioactive
preparations, bromides, ergot, tetracyclines,
metronidazole, antineoplastics, alkaloids,
chloramphenicol, cyclosporin, nicotine, alcohol,
steroids, diuretics, oral contraceptives, nalidixic

acid, sulfonamides, lithium, reserpine,

diphenylhydantoin, barbiturates.
* Absolute drug contraindications to breastfeeding
include antineoplastics (chemo), alkaloids,
chloramphenicol, cyclosporin, nicotine, alcohol,
lithium, radiopharmaceuticals (iodine), atropine.
* Relative drug contraindications to breastfeeding
include seizure medications, neuroleptics, sedatives,
tranquilizers, metronidazole, tetracycline, sulfa,
* Mastitis is not a contraindication to nursing.
Breastfeeding during mastitis helps mother recover
quicker. Mother can take antibiotic and still nurse.

Formula Feeding :
* Formula feeding is used as a substitute or as a
supplement. A majority of formulas are cows milk based
and are adjusted to be as close to breast milk as
* Common formula is 20 calories per ounce.
* Human milk is 1.2g/dL protein (7% calories), 4g/dL
fat (54% calories), 6.8g/dL carbohydrates (40%
* Soy formula is 1.5g/dL protein (9% calories), 3.8g/dL
fat (50% calories), 6.9g/dL carbohydrates (41%
* Whole milk is 3.3g/dL protein (20% calories), 3.7g/dL
fat (50% calories), 4.9g/dL carbohydrates (30%

* Whole cows milk is good for baby cows or anyone over

1 year of age. Higher risk for allergies, GI blood
loss, and anemia if started early. Iron is not absorbed
well and they get GI blood loss.
* 13mo comes in with a hemoglobin of 6. Mother has been
using cows milk since 4mo. Thats the cause.
* Whole cows milk has a high solute load on the
kidney. 87mEq/mL in human, 227mEq/mL in cows.
* Vitamin D is recommended if the formula does not have
it, but just get out in the sun and youll be fine.
* Goats milk must be supplemented with folic acid.
* If poor iron intake, foods contain iron and are
started at 6 weeks.
* Solids should be introduced at about 4-6 months of
age. Baby can hold its head up, suck-swallow mechanism
is better, lower risk of allergies. Start a new solid
one at a time, one per week to determine if they like
it and allergies.
* A mother states that her infant is having episodes of
inconsolable crying every night for the past 5 nights.
He draws his legs up and his abdomen becomes rigid. The
episodes resolve as quickly as they come on and the
rest of the day he acts normally. No diagnostic tests
for colic.
* Usually colic starts about 3 weeks of age and lasts
to 3 months of age, no one really understands it,
cramping thing that happens, babies cry then swallow
air and get more cramping, pass gas, draw their legs

* Generally, rhythmic motions help for colic. Patting

the baby, bouncing the baby, car rides. Sometimes you
can use anti-gas medications like simethicone.
Typically occurs at the same time of night.
* Differential for colic includes intussusception,
hernias, strangulated hair (e.g. mothers hair around
* A 3yo boy is seen for chronic illness. He appears
edematous and apathetic with thin hair. Generalized
dermatitis is noted. Sparse hair and decreased muscle
tone is noted. This is kwashiorkor, protein-calorie
* Vitamin deficiencies are often associated with
kwashiorkor. Usually it occurs after they wean from the
breast because they arent getting the nutrition they
need, seen in poor societies.
* Edema is due to protein loss, thus loss of oncotic
pressure in abdomen. Decreased serum albumin, decreased
blood glucose, decreased essential amino acids.
Mortality can reach 30-40%.
* Treatment of kwashiorkor is slow feeding, replacing
quickly can make things worse, plus give vitamins.
* Vitamin A deficiency causes night blindness. Thiamin
deficiency leads to beri beri. Niacin deficiency leads
to pellagra.
* No honey is recommended in the first year of life due
to risk of infantile botulism.
* Botulism presents as a descending paralysis (versus
Guillain-Barre which is ascending).

* Infantile botulism is due to the spores themselves.

In adults, botulism is due to the toxin.

Growth, Disorders of Height, & Disorders of Weight:

* A father is concerned that their 13yo son is short.
The child has been very healthy, is below the 5th
percentile for height and has been his whole life.
Physical exam is normal. Father is 63, mother is
510. Father was a late bloomer meaning growth spurt
was later than usual.
* Growth is an increase in size, form, and biologic
* Growth chart shows length until they are old enough
to stand, then it is height.
* 2 standard deviations above 50th percentile is 97th
percentile (high normal).
* 2 standard deviations below 50th percentile is 3rd
percentile (low normal).
* A child that is short most of their early years than
ends up in the normal range is constitutional growth
* Child that is just below the minimal for normal
height but is following the curve. Father is 56,
mother 51. The tallest person in the family is 57.
This is familial short stature.
* A child that is 50th percentile for several years
than drops to below 3rd percentile is worrisome. This
could be a pituitary tumor, craniopharyngioma, Turner
syndrome, or other causes of falling off the growth

* Pathologic short stature and constitutional short

stature both start with child in normal range for
height. Constitutional will eventually reach adult
height, pathologic will fall off. Past family member
history is important.
* Physical exam may be helpful if a syndrome is
involved. Any female with short stature should be
evaluated for Turner syndrome (e.g. karyotype).
* Labs could include CBC, urinalysis (chronic renal
disease), LFTs, TFTs (hypothyroid), growth hormone.
* Wrist films can tell you bone age. If patient is 12yo
and short, bone age is 9yo, you know there is room for
the patient to grow still.
* If you suspect pituitary tumor, craniopharyngioma, do
a skull film looking for an enlarged sella turcica.
* Treatment is to correct the underlying disease.
Growth hormone will help some patients.
* Differential includes hypopituitarism, deprivational
dwarfism, Turner, hypothyroidism, chronic disease.
* Majority of patients who are tall are normal.
Doubtful that any NBA basketball player has Marfan
* Causes of increased height include obesity, growth
hormone excess (gigantism, acromegaly), androgen excess
(tall as children, short as adults), hypothyroidism,
homocystinuria, cerebral gigantism (Sotos syndrome),
Beckwith- Wiedemann syndrome, Weaver-Smith syndrome,
Klinefelter syndrome.
* Disorders of weight include failure to thrive and

* A baby weighs 16lbs at 1 year of age. His birth

weight was 8lbs. Parents state that the baby feeds
well. Physical exam reveals a baby with little
subcutaneous fat, long dirty fingernails, impetigo, and
a flat occiput.
* Failure to thrive (FTT) means you are not gaining
weight appropriately or losing your rate of weight
* FTT causes include malnutrition, malabsorption
(infection, celiac disease, chronic diarrhea),
allergies, immune deficiencies, chronic diseases.
* Baby should double their birth weight in about 4-5
months. By 1yo, they should have tripled their birth
* Impetigo, flat occiput, and long dirty fingernails
implies the baby is not being taken care of. Baby is
not being cleaned or cared for, occiput is flat because
baby is just laying their on its back all day long.
* Hospitalization may be necessary to document how many
calories they are getting, to teach the parents to do
it appropriately, to get the family the resources they
need to feed the baby.
* In children who do not gain weight after these
measures, consider a swear chloride test for cystic
fibrosis (CF).
* Obesity is a generalized over-accumulation of fat,
generally due to overeating without exercise. Mother
may give the baby a bottle every time it cries, so it
gets use to more calories. Grandma may say a fat baby
is a healthy baby.
* Treatment is diet and exercise.

* There are some syndromes associated with being

overweight and obese, but they are rare. Exception to
the rule.
* Risk factors are parental obesity, family inactivity
(T.V., video games), feeding in response to any crying,
too much fruit juice in first year of life, and some
* Children present not only fat, but possibly with
increased height. Boys may have increased fat tissue in
the mammary region (looks like gynecomastia), abdominal
striae, pubic fat pad in boys makes it look like a
* Body mass index (BMI) curve over 95% or over 30.
* Complications include risk of adult obesity (with
hypertension, hyperglycemia, stroke, MI),
cardiovascular problems, slipped capital epiphysis,
sleep apnea.
* Differential includes endocrine and genetic causes,

Fluids & Electrolytes:

* 7yo is admitted to the hospital for an elective
tonsillectomy. The surgeon has asked the pediatrician
to keep the child NPO after midnight. The child weights
22kg. Calculate maintained fluid from caloric
expenditures. Replace what you would normally lose
during the day, urine, sweat, breathing, stool.
* Electrolytes are lost in urine, about 2-3mEq/kg/day
sodium, 1-2mEq/kg/day potassium.

* For first 10kg in children, 100mL/kg. So 5kg child

would be 500mL for day. Next 10kg start with 1L then
give 50mL/kg up to 20kg. > 20kg give 1.5L then 20mL/kg
for each kg over 20kg.
* 22kg child would be 1500mL + 40mL is 1540mL in 24
* 4-2-1 rule is 4mL/kg for first 10kg, 2mL/kg for next
10kg, and 1mL/kg after that (per hour). Quicker method
for that is take weight and add 40. So 22kg child would
be 62kg/hr or about 1488mL/day.
* Deficit can be calculated by physical exam or recent
weight. So normal 10kg child now has diarrhea and is at
9kg. You know the kid isnt trying to lose weight, so
fluid loss is 1L of fluid.
* Dehydrations are isonatremic (isotonic),
hypernatremic (hypertonic), and hyponatremic
* Amount of fluid deficit is mild (5% infant, 3%
adolescent), moderate (10% infant, 6% adolescent), or
severe (15% infant, 9% adolescent). Older children have
less proportion of body water.
* Mild dehydration would be thirsty and alert patient,
no tachycardia, normal perfusion.
* Moderate dehydration would be weak pulse,
tachycardia, normal perfusion.
* Severe dehydration would be very weak pulse,
tachycardia, decreased perfusion, mottled skin.
* Skin turgor and fontanelle can be used to determine
degree of dehydration (tented skin, sunken fontanelle).

* Always treat shock. If hypotensive, give 20mL/kg of

normal saline or Lactated Ringers.
* Isonatremic and hyponatremic dehydration, replace
fluid deficit in 24 hours. Give half deficit in first 8
hours and rest of deficit in next 16 hours.
* Hypernatrmic dehydration, do not decrease sodium too
quickly else cerebral edema, replace total deficit over
48 hours. Remember to include maintenance as well and
ongoing fluid loses (e.g. diarrhea, urine in DKA).
* Best place to check for skin turgor is over the
* Doughy feel with skin tenting seen in hypernatremic

Development & Behavior:

* Development is acquisition of functions.
* Baby can sit up with its back straight, has started
crawling, has a pincer grasp, and plays peek-a-boo.
What age is most appropriate for this baby?
* Development classified into neurodevelopmental,
cognitive, and psychosocial.
* Denver Developmental Screening Test (DDST) is a
developmental screening tests. Focus on a couple things
that differentiate one age group from another. There is
a spectrum of normal for each milestone.
* Moro reflex is when the child is stimulated by gently
dropping the bassinette or the baby a few inches, baby
will bring arms flexed in, draw legs up, and toes fan

out like a Babinski. Present at birth, disappears at 46 months of age.

* Grasp reflex is plantar or palmar, stimulation of
hand will cause grasp. Present at birth and disappears
at 4-6 months of age.
* Rooting reflex is stimulation of cheek and baby will
turn head and open mouth, attempting to nurse.
* Trunk incurvation (Galant reflex), baby held in
ventral suspension and finger ran along one side, baby
will move hip/butt to that side. Baby may pee a little
too. Present at birth, goes away at 6-9 months of age.
* Placing or stepping reflex is baby suspended and
dorsum of foot touches examining table, baby will draw
leg up like taking a step. Goes away at 4-6 months of
* Tonic neck reflex (fencers pose) is with baby on
back, head turned to side, facing hand will be straight
out and opposite arm flexed. If you turn the head to
the other side, baby should reverse pose. Goes away at
4-6 months.
* Parachute reflex is not present at birth. This reflex
is when baby is sitting up, you tip them over, they
will move their hand out in anticipation for falling.
If you grab the baby and dive them a little head down,
they will spread both arms out to prevent face-first
falling. Present at 6-8 months of age and should not go
* Babinski is normal until about 18 months. This is big
toe up, other toes fanned out. UMN lesion after 18

* Prone positioning with ventral suspension is when you

hold the child face down with one hand on their chest
and belly. One week old will look floppy because no
good musculature. 1-2 month old will have better muscle
* Up to 2 months of age, head will lag if you pull baby
up to sitting. This goes away at 2-4 months of age.
* Newborn in prone will barely be able to get face over
to side. At 1 month of age, baby will be able to clear
exam table without nose rubbing. At 4 months of age,
arms underneath with chest and head up.
* Good pincer grasp seen at 9-10 months of age.
Mnemonic is pointer finger makes a 1, pointer-thumb
makes a 0.
* Newborn will turn head with nose touching in prone,
flexed in ventral extension. Visually will prefer a
face and has dolls eye movements.
* 1 month of age will clear exam surface prone, lift
head to plane of body, will follow moving object.
* Social smile at 2 months (4-8 weeks of age), lift
head in prone position, keep head in plane of body for
a little while, still tonic neck, still head lag,
* 3 months of age can lift head and chest off exam
table prone, still tonic neck, social smile still.
* 4-5 months will roll over from stomach to back. 5-6
months roll over from back to stomach. * 6 months can
start creeping or crawling, sitting with pelvic support
and back rounded leaning forward on hands, raking at a
pellet, babbles.

* 9 months of age will sit by self, creep, crawl, walk

with hands held, pincer grasp, plays peek-a-boo.
* 12 months of age will cruise (walk holding onto
things), may walk a little, will adjust position to
help dressing.
* 15 months of age will walk by self.
* 18 months of age will say no, body parts, 10-20
* 24 months of age will put sentences together.
* 30 months of age can walk up stairs but alternating
* 36 months can go down stairs with alternating feet,
know age free years old, can tell you if they are boy
or girl.
* 48 months can copy a cross or square (4 years, 4
sides, 4 objects).

Attention Deficit Hyperactivity Disorder (ADHD):

* 6yo boy is doing poorly in school. Teachers report he
is distractible, impulsive, and fidgety. Parents state
he is always on the go at home and has been a
discipline problem.
* Hyperactivity portion is not always there, more
commonly seen in boys.
* Characterized by inability to attend to the task at
hand, increased motor activity, and impulsivity.
* Etiology unknown. We do know they have problems
filtering stimuli, e.g. flickering light bulb or bird

chirping outside the classroom would be too distracting

to accomplish a task.
* ADHD kids have problems controlling their own
behaviors to social accepted norms.
* More commonly diagnosed in males overall, but
inattentive-type more common in females. Probably 1:1.
* DSM-IV criteria are inattentiveness (mistakes,
difficulty paying attention, doesnt seem to listen,
doesnt follow through on tasks, difficulty getting
organized, avoids sustained mental effort, loses things
easily, distractible and forgetful), hyperactivity
(fidgety, out of seat, dont play quietly), and
impulsivity (say or do things without thinking about
the consequences). Criteria should be noted at home and
at school.
* There is no test for this. There is the Connors
questionnaire and others, but no diagnostic tests.
* Treatment is pharmacologic and psychosocial
management (treat family situation).
* If associated learning disability, that should be
managed as well.
* Medications include methylphenidate,
dextroamphetamine, pemoline, tricyclic antidepressants.
* Diet has nothing to do with ADHD (e.g. chocolate, red
dye #40, sugar).
* Children will learn to control some of the
distractibility and impulsivity.

Enuresis & Encopresis:

* 7yo boy has problems with bedwetting. Mother says

during the day he has no problems but is usually wet 6
of 7 mornings. He does not report dysuria or frequency,
and does not have increased thirst. Mother says he is a
deep sleeper. This is nocturnal enuresis, a disorder of
arousal and sleeping.
* Enuresis is defined as involuntary passage of urine
after a normal age for toilet training (by age 3-5).
* Every year there are fewer and fewer children with
enuresis as children get older, so reassure parents.
* Enuresis does run in the family.
* Primary enuresis is a child that has never been dry
for a significant portion of time. Secondary enuresis
is the child that has been dry and now is having
accidents; ask about home or school issues (e.g. new
sibling, parents getting divorce, bully at school,
grandpa died).
* Nocturnal enuresis is associated with development
delay of the bladder.
* Worry about urinary tract infections and diabetes,
which could be causing enuresis.
* Treat with reassurance, bed bell system (child
changes sheets after wetting), and possibly
medications. Recommend child does not drink fluids for
2 hours prior to going to bed.
* Encopresis is fecal incontinence is more common in
males and usually psychological, such as not wanting to
go to the bathroom at school and getting impacted then
leakage around impaction.

* Encopresis is triggered by voluntary holding then

leakage around impaction.
* Treatment of encopresis involves counseling and
possibly cleaning out the patients bowels.

Developmental Disorders:
* 4yo child speaks in unintelligible mumbles, prefers
to play by himself, and rocks back and forth
constantly. Parents state that as an infant he had a
delayed social smile and was not very playful or
* Autism is a developmental disorder, usually a problem
with social relations. Also have verbal and non-verbal
communication deficits, unusual responses to the
* Autism is usually picked up prior to 30 months of
* Clinical features include failure to attach as an
infant, delayed or absent social smile, failure to
anticipate interaction (will not reach out arms if you
go to pick them up), tend to have repetitive movements,
may have a need for constancy, may have verbal or nonverbal communication delay, outbursts of anger, may
hurt self or others.
* No cure for autism, treatment consists of small
educational groups and sometimes pharmacotherapy.
* Prognosis for autism is very poor.
* Asperger's is a subset of autism, more communicative,
appear more aware, do not have the language impairments
that are seen in autism. However, they do have social

impairments, do have repetitive behaviors, and have

obsession interests and constancy.
* syndrome only seen in females, X-linked dominant
(MECP2 gene), normal until 1yo then losing milestones
or delay. Head stops growing. Will have hand-wringing
movements and sighing sounds.

* Poisoning is the 4th most common cause of injury in
children. Occurs most often under 5yo (when child can
begin to walk) and in teenage years (intentional or
* Any poisoning over age 5 is most likely nonaccidental, things like suicide, child abuse,
intentional injury.
* Majority of poisonings occur in the home, most likely
in the home and bathroom.
* Anticipatory guidance is involved here, seatbelts,
car seats (started at birth), poisons on higher
* Poisonings occur when normal routine is disrupted,
such as family vacation, visiting grandma (house not
child proofed), after a home move.
* Child safety caps are good for prevention of
poisoning, but can give you a false sense of security.
Just because it has a child safety cap does not mean
the child cannot get into it. The child is like a
little burglar, if you give them enough time they can
get into things. Idea is to slow them down so they get

tired and do something else, or so you catch them in

the act.
* All poisons should be properly labeled. If you mix a
name-brand cleaner into a squirt bottle and the child
drinks it, you may not know what is in the bottle if it
is not labeled.
* Keep poisons and medications in a high up and locked
* Do not take medications in front of children. This
sends the message that if mom and dad do this then the
child should too. Example would be little girl presents
with gynecomastia and says she wants to be like mommy.
This child took moms menopause hormones (estrogen).
* Dispose of medications properly, do not flush
medications unless a medication insert specifically
says to do so. If no instructions are given, remove
medications from bottle and mix with undesirable trash
(e.g. used coffee grounds or kitty litter). This helps
keep animals (family pet) and children out. Place in a
leak-proof bag to prevent leakage.
* Always have the poison control number at home and in
something that will be carried with the baby, such as a
diaper bag.
* Many pharmacies no longer carry syrup of ipecac
(emetic) and there is controversy about home activated
charcoal. Best management is call poison control and go
to ED.
* If inhaled poison, remove child from source. If
absorbed through skin, remove clothing and wash child

* If poison swallowed, go to hospital. If poison in

eye, flush eye with water for 15 minutes.
* In ED, management is ABCs, quick history (e.g. how
many pills, how long ago), fast focused exam.
* Poisoning should be added to the differential anytime
there is a bizarre constellation of symptoms.
* Prevention of absorption can be done by causing
emesis (rarely used), gastric lavage (best in first
hours after ingestion), activated charcoal, cathartics
(polyethylene glycol or other medications to speed GI
transit), diuresis may help with certain ingestions.
* Emesis and gastric lavage are not indicated for
corrosives as they will make things worse.
* Do not do induce emesis or do gastric lavage if
patient has reduced gag reflex or is comatose.
* Activated charcoal has few contraindications, but do
not give if you just gave an emetic as activated
charcoal may absorb the emetic leading to poor emesis.
Again, emetics rarely used.
* Activated charcoal not helpful for cyanides, metals,
sodium, potassium, chloride, acids, bases.
* Cathartics decrease GI absorption. Magnesium
cathartics should not be used if the patient is in
renal failure.
* Diuresis and dialysis are options as well. These are
usually last ditch measures.
* Poisoning treatment of choice is supportive. There
are few antidotes, so manage ABCs.
Poisoning: Acetaminophen;

* 3yo was playing doctor with his 4yo sister. The

sister told him that he was very ill and prescribed 25
acetaminophen tablet, which the child ingested. Another
case would be a 16yo who takes a bottle of
acetaminophen tablets after an argument with her
parents or breaking up with her boyfriend.
Hepatotoxicity is worse in adults. Either way, we need
to manage these patients.
* Acetaminophen is used for analgesia and as an antipyretic. Metabolism is mainly via liver.
* Toxic dose in children under 12yo is 150mg/kg. It is
also important to know if the pill is extended release.
* Stage I acetaminophen toxicity is first 24h after
ingestion. Patients have nausea, vomiting, diaphoresis.
This is a good time to get liver function tests because
they will be normal.
* Tests to get are liver enzymes (transaminases),
coagulation studies, bilirubin, and albumin.
* If patient is a girl in childbearing years (12 to
52), get a pregnancy test.
* Stage II acetaminophen toxicity is 24-72h after
ingestion and patient is starting to look better.
However, if the patient is going to have liver
problems, this is when youll see changes in LFTs and
coagulation studies.
* Stage III acetaminophen toxicity is 72-94h after
ingestion and patient will have a peak in LFTs. This is
when you know if the liver will recover or get much
* Stage IV acetaminophen toxicity is when the liver is

* Majority of children will not have liver problems.

However, acetaminophen toxicity is the number one cause
of liver transplant in the U.S.
* Management also include ordering an acetaminophen
level. Acetaminophen tends to peak at 4 hours.
* Antidote for acetaminophen is N-acetylcysteine (NAC).
Rumack nomogram will help you determine if we should
give NAC. If level is above the top line (probably
hepatotoxicity area), give NAC. If level is between the
two nomogram lines, this is possible hepatotoxicity,
give NAC.
* Why not give to everybody? There is a loading dose
then a dose every 4 hours for 16x (17 total doses).
Generally the patient will not drink it because it
tastes lousy and smells like rotten eggs so is given
via NG tube.
* Once you start giving NAC, it does not matter what
the acetaminophen level is. The level will drop and
will not change management, keep giving NAC regardless
of any subsequent acetaminophen level.
* Activated charcoal is given not only for
acetaminophen here but in case the patient took other
poisons along with the medication (e.g. anti-depressant
* If acetaminophen level greater than 150, treat
patient with NAC. NAC best given within 8 hours of
Poisoning: Alcohol;
* A high school senior arrives in the Emergency
Department (ED) immobilized on a backboard with
cervical spine collar in place after a motor vehicle

accident. The patient was a restrained passenger in the

backseat passenger-side. He states that he and the 5
other teens in the car had just left the party when
their car was struck. The smell of alcohol is present
on physical exam, the patient has no history of
diabetes, and no broken liquor bottles were found in
the car or trunk at the scene of the accident.
* One drink is 12oz can beer, 9oz glass wine, 1.5oz
liquor shot.
* Alcohol use is seen often in adolescence. Negatively
affects the parachute reflex. Joking aside, it not only
can lead to negative outcomes for the teen but for
others (e.g. car accident) and their families.
* Factors affecting intoxication include amount of
alcohol ingested, patient size, if food was ingested,
and tolerance.
* Most states cutoff intoxication for driving at BAC
0.08. This is legally drunk regardless of effect due to
* From 50-150mg/dL there are affects, incoordination,
blurred vision, slowed reaction time. BAC 150-300 gives
visual impairment, staggering, and slurred speech. BAC
300-500 produces stupor, hypoglycemia, coma. BAC over
500 is fatal if patient has no tolerance.
* Any comatose patient should get an alcohol level
drawn as well as blood glucose.
* No specific antidote, only supportive treatment.
Treat metabolic acidosis and hypoglycemia.
* MichaelisMenten kinetics for alcohol is zero order.
Zero-order drugs are PEA: phenytoin, ethanol, aspirin.

* Zero order kinetics means alcohol will be constantly

metabolized at the same rate regardless of other
* Activated charcoal can be used in case they got into
anything else, but not too helpful for the alcohol.
* If high blood alcohol levels and nothing is helping,
then consider dialysis.
Poisoning: Amphetamines;
* The guidance counselor refers a 10th grade student
to the school nurse for weight loss, insomnia, and
* Amphetamines are stimulants so why is he depressed?
Because hes coming down off of them.
* Patients will have either acute or chronic toxicity.
Acute toxicity includes diarrhea, palpitations,
arrhythmias, syncope, hyperpyrexia, hyperreflexia,
seizures, coma.
* Chronic toxicity due to tolerance includes
restlessness, nervousness, depression, insomnia,
suicidal behavior, weight loss. Diagnosis is via urine
drug screen (UDS) will show amphetamines for up to 1-3
days and methamphetamines for up to 3-5 days.
* For acute intoxication, supportive therapy with ABCs,
cooling blanket for hyperthermia, sedation if needed.
Poisoning: Salicylates;
* A teenage girl is brought by ambulance to the ED
because her mother found her ingesting a bottle of
aspirin. The patient states that she wants to die as
her boyfriend has decided to date someone else.

* Aspirin is used as an analgesic, anti-inflammatory,

and antipyretic. Other medications with salicylate in
them include bismuth subsalicylate (Pepto-Bismol) and
methyl salicylate (Oil of Wintergreen).
* Salicylates are the most common cause of drug
poisoning in the United States.
* 80yo woman presents with increasing back pain. Has
been taking her pain medication more and more often
over the past week. Daughter asks about her moms
ringing in the ear. The patient interrupts to say Its
just cause Im getting old. Think salicylate
poisoning, not just in pediatrics.
* Salicylates uncouple oxidative phosphorylation,
increase metabolic rate, cause tachypnea, tachycardia,
fever, and hypoglycemia. You try to put these symptoms
together thinking, Well what infection can cause
* By inhibiting the Kreb's cycle, you get metabolic
acidosis, liver damage, coagulation problems
* Presentation includes vomiting, hyperpnea, fever,
lethargy, mental confusion all seen in mild. Seizures,
coma, respiratory collapse seen in severe ingestions.
Hyperventilation, dehydration, bleeding disorders,
seizures, coma seen in chronic ingestion. Tinnitus is a
common symptom associated with salicylate level over
* Stage I salicylate toxicity last about 12h and
involves respiratory alkalosis, losing potassium and
bicarb in urine. This stage is 12h in adolescent but
may not be seen in a small child. It can mimic diabetic

* Stage II salicylate toxicity includes paradoxical

aciduria, 12-24h after ingestion in adolescent. May be
sooner in the younger child.
* Stage III salicylate toxicity includes metabolic
acidosis, dehydration, hypokalemia. This stage occurs
earlier in infant, later in adolescent (> 24h).
* White count, hematocrit, and platelets may be
increased. BUN and creatinine may be increased
* Labs can be all over the place, hypernatremia,
hypokalemia or hyperkalemia, hyperglycemia or
hypoglycemia, ABG showing metabolic acidosis with
respiratory compensation in children. In adolescents,
ABG will show respiratory alkalosis alone.
* Done nomogram is for salicylate overdose. Using the
Done nomogram, you can determine how bad the ingestion
can be, even though there is no antidote.
* Ferric chloride test is done by putting a drop of
urine on a ferric chloride tablet. If tablet changes
color, you know there is aspirin in the system. It does
not say how much (quantitative), just qualitative.
Obtain blood aspirin level.
* Treatment is supportive care. Gastric decontamination
if soon enough. May attempt to change urine pH by
giving bicarbonate IV, which would speed excretion of
aspirin. Severe cases may need hemodialysis.

Poisoning: Carbon Monoxide;

* 5yo is brought to the ED for a first time seizure.
The child was previously well. The father states the

child was traveling across country in an older model

vehicle when the seizure occurred. The child was
sleeping on the car of the vehicle and there were 5
adults smoking tobacco at the time of the event. On
physical examination, the child appears drowsy. Pulse
oximeter reads 97%.
Carbon monoxide is colorless and odorless. Can come
from a bad car, not necessarily a car running in a
garage, many times because the CO is seeping into the
car. CO will bind hemoglobin a 250x better than oxygen
does. Oxygen is thus displaced giving
Carboxyhemoglobin. CO (Carboxyhemoglobin) level of 010% has no symptoms. Smokers tend to have 3-5% as
baseline.CO level of 12-20% gives headaches, 21-30%
gives worse headaches and irritability, 31-40% gives
severe headache, lethargy, nausea, vomiting, 41-50%
gives confusion, syncope, tachycardia, tachypnea, 5160% can cause coma and seizures, 61-70% gives
hypertension and respiratory failure, > 70% is fatal.
Cherry red blood on ABG may be seen, cherry red skin is
very rarely seen. PO2 will be lousy even with red
blood. Acidosis will be seen on ABG.
Treatment is to remove patient from the source
(replace car, fix house), put on 100% oxygen, severe
cases get hyperbaric oxygen.
Sequelae include behavior changes, memory loss,
blindness, and can all occur with one exposure.
*Cyanide intoxication, seen in house fires, is treated
with amyl nitrate, then sodium nitrite and sodium
Poisoning: Caustics (Acids & Alkali);

* 2yo presents to the ED with his parents who say they

found the patient drinking some lye. The patient is
crying profusely with blisters and burns noted on
inspection of the mouth. The patient is drooling.
* Acids cause tissue necrosis. Alkalis cause
liquefaction necrosis. Burns worse at extreme of pH (<
2, > 12).
* Manage airway immediately due to airway burns and
* Esophageal strictures can occur. Pylorus strictures
can lead to vomiting or delayed gastric emptying.
* Endoscopy can be done to determine extent of burns.
* Treatment is to remove caustic by removing from skin
and flushing mouth.
* Do not induce vomiting in these patients as it will
burn. Do not do gastric lavage because you can
perforate the esophagus as the NG or OG tube travels
* No need for antibiotics. Role of steroids is
Poisoning: Cocaine;
* 15yo is brought to the ED with dilated pupils,
tachycardia, and chest pain. A classmate reports that
she thinks she saw the patient snorting in the locker
* Cocaine can be taken various ways, snorted, smoked,
injected. Cocaine is a potent vasoconstrictor.

* Cocaine has a short half-life. It gives a feeling of

euphoria, CNS stimulation, restlessness, excitement,
* Later symptoms include hypotension, seizures, coma,
respiratory depression
* Chest pain can occur as well as myocardial injury.
* Snorting the powerful vasoconstrictor can lead to
perforated nasal septum due to ischemia.
* Urine drug screen (UDS) to test for cocaine, in
urine for up to 2-5 days.
* May see packets on an abdominal film if patient is a
drug smuggler.
* Death can occur if a packet bursts and patient
absorbs large amount of cocaine.
* Treatment is supportive, no antidote. Since half-life
is short, they will do alright after initial hump.
* Hypertension can be profound due to
vasoconstriction. Chronic users can develop
Poisoning: Hydrocarbons;
* 2yo is brought to the pediatric ED because the
patient ingested gasoline. The gasoline has been placed
in a soda bottle to be used for the lawnmower. The
patient does not appear to be in respiratory distress
but wheezing is present at the right base.
* Main problem in not ingestion because it tastes lousy
so they will not drink much. The problem is in
* Hydrocarbons found in fuels, solvents, cleaners.

* Patient may have cough, emesis, fever. Symptoms may

be delayed for 6 hours. So, if kid comes in right after
ingestion do not listen to the lungs and send them
home. Monitor for 6-8 hours.
* Physical exam can show shortness of breath, wheezing,
rales, dullness to percussion.
* Aspiration pneumonitis on x-ray.
* Treatment is supportive. Gastric lavage is
contraindicated. Antibiotics are not indicated.
* Complications are not common, but can have
respiratory problems.
Poisoning: Organophosphates;
* A young boy who is visiting his grandfathers farm
is brought to the ED by his grandparents. The
grandfather says the child had been playing in a newly
fertilized field when he developed drooling, tearing,
and emesis. At present, the patient is areflexive and
has defecated and urinated in his trousers. The patient
appears lethargic.
* Organophosphates found in insecticides. They are
acetylcholinesterase inhibitors.
* Organophosphates lead to a hypersecretory state.
Mnemonic is SLUDGE or DUMBELS: diarrhea, urination,
miosis, bradycardia, emesis and edema, lacrimation,
* Triad is bradycardia, miosis, and fasciculations.
* Diagnostic tests include history and physical, RBC
cholinesterase activity will be decreased (takes a

* Treatment is ABCs, remove clothes if skin exposure,

wash patient to prevent more absorption.
* Treatment includes atropine and pralidoxime (2-PAM
* Some organophosphates are carbonate esters and
pralidoxime will not work as well for these.
* Give atropine, sometimes a continuous infusion, until
reversal of symptoms (until tachycardia, mydriasis,
decreased secretions) then wean atropine.
Poisoning: Iron;
* Iron poisoning is the most common cause of death
from poisoning in childhood.
* Severity of iron poisoning depends on the amount of
elemental iron, not just mg of iron in the
* Stage I iron intoxication occurs about 30min-6h after
ingestion, symptoms are nausea, vomiting, diarrhea,
abdominal pain. Mimics hemorrhagic gastroenteritis.
* Stage II iron intoxication occurs 6-12h after
ingestion and patient will clinically improve.
* Stage III iron intoxication occurs 24-48h after
ingestion, indicated more severe poisoning, progressive
circulatory collapse (shock), hepatorenal failure,
bleeding, metabolic acidosis, coma.
* Stage IV iron intoxication 1-2mo after ingestion,
signs of GI scaring/obstruction, vomiting like pyloric
* Childrens vitamins with iron do not have enough
iron to cause intoxication. Iron intoxication occurs

when child gets into grandmas vitamins or moms iron

supplements or other adult preparations.
* Serum iron level can be obtained. Levels > 500 is
considered severe poisoning.
* Sometimes can see iron tables on an abdominal film
(radio-opaque tablets). If liquid, then wont see on xray.
* Treatment if no gastroenteritis is emesis (if
early), whole bowel irrigation to flush tablets,
endoscope to remove tablets if they are still there.
* Antidote is deferoxamine for symptomatic patients,
hypotension, lethargy. Treatment is supportive.
* If asymptomatic, wait for serum iron and TIBC. If
serum iron > 350, can use deferoxamine.
* Deferoxamine causes urine to change color, looks like
* Complications include GI scaring and obstruction.
Poisoning: Lead;
* 24mo has a lead level of 19 on a routine screening
for a well-child check. The patient is asymptomatic but
lives in a historic home being renovated by the
* Lead poisoning is a chronic disorder often seen in
children near environmental exposure risks such as old
houses being restored or old houses with paint chips.
New houses do not have lead in the paint.
* Other sources of lead include pottery, plates,
fishing weights, aerosolized from stripping pain in old

homes, lead pipes, lead-glazed pottery with folk

* A good source of dietary iron is using iron-based
skillets (joke). Lead-glazed pottery will put lead in
* Majority of patients are found on routine screening
and many will be asymptomatic.
* Anorexia, apathy, lethargy, anemia, decreased play
activity, aggressiveness, poor coordination, poor
school performance, are symptoms of lead intoxication.
Encephalopathy or coma with acute active ingestion.
* Chronic lead exposure can cause apathy, clumsiness,
nausea, vomiting.
* Diagnosis is via blood-lead level, gold standards.
Best test is not free erythrocyte protoporphyrin.
* Levels greater than 10 are considered abnormal.
* CBC may reveal anemia, basophilic stippling. X-ray
will show lead lines at joints (metacarpals, knee).
* Treatment is to remove child from the environment.
* Lead > 15-19 then screen q4mo, > 20 then confirm with
venous blood, >45 begin medication treatments, >55-69
treatment is EDTA or succimer (oral chelating agent), >
70 is EDTA and dimercaprol (BAL, British AntiLewisite).
* Dimercaprol is mixed with peanut oil (BAL in oil) so
ask about peanut allergy.
* Usually seen in children < 3yo, encephalopathy can
occur after 3-6 weeks of active lead ingestion.
Poisoning: Antihistamines;

* 2yo took his brothers allergy medication and is

brought to the hospital by ambulance because of tremors
and hyperactivity. The medics report the child had a
seizure before arriving at the hospital. On physical
exam, the child has fever, flushed skin, tachycardia,
and fixed-dilated pupils.
* Antihistamines can depress or stimulate the CNS. Some
preparations contain alcohol. Some contain
decongestants like pseudoephedrine which will stimulate
the CNS.
* Presentation varies from drowsiness, to insomnia and
nervousness. Can be hyperactive and experience
hallucinations. Can present with seizures.
Anticholinergic effects (fever, tachycardia, flushed
skin, mydriasis).
* There is no diagnostic test and no antidote. Requires
high index of suspicion and supportive care.
* Activated charcoal can be given. If long-acting
antihistamine, then can try cathartics or whole bowel
Poisoning: Barbiturates;
* 3yo arrives with his parents after ingesting his
brothers seizure medication, phenobarbital. The
patient has constricted pupils and appears to be in a
* Barbiturates used for anticonvulsants. The increase
the duration of GABA channel opening, depresses CNS.
* Mild to moderate toxicity will mimic alcohol
intoxication, slurred speech, clumsiness.

* Severe acute intoxication will cause changes in

level of consciousness and will cause respirator
* Look for constricted pupils, confusion, hypotension,
poor coordination, respiratory depression, coma.
* Treatment is ABCs, intubation if respiratory
depression, manage hypotension, supportive care.
* Gastric lavage and activated charcoal are options.
Forced diuresis and alkalinization of urine can help
with long- acting barbiturates, such as phenobarbital.
* Complications include death from respiratory
Poisoning: Tricyclic Antidepressants (TCA);
* 3yo presents to the ED after taking her brothers
bedwetting medicine. She is noted to be drowsy. ECG
shows widened QRS and prolonged QT and QTc.
* TCAs produce sedation, alpha-blocking effects,
* Most important thing to worry about is the ECG.
Monitor the patient.
* Most common causes of death in TCA overdose patients
is cardiac arrhythmias and seizures.
* Symptoms include drowsiness, delirium,
hallucinations, disorientations, seizures, coma.
Initially hypertension and later on hypotension.
* Treatment is supportive therapy. Activated charcoal
can be used. Sodium bicarbonate can be used to
alkalinize and to prevent dysrhythmias. Arrhythmias can

be managed with lidocaine. Seizures treated with

Poisoning: Treatments;
* Acetaminophen treated with N-acetylcysteine (NAC).
* Anticholinergics treated with physostigmine.
* Anticholinesterase treated with atropine and
* Carbon monoxide treated with oxygen.
* Cyanide treated with amyl nitrate then sodium nitrite
and sodium thiosulfate.
* Digoxin treatment is avoid hyperkalemia and digoxinfab fragments (Digibind).
* Ethylene glycol treatment is ethanol.
* Opioids treated with naloxone.

Head Trauma:
* 5yo fell approximately 6ft from a tree and is
brought to the ED because of loss of consciousness at
the scene for 1 minute. Patient is awake and alert on
arrival, Glasgow Coma Scale is 15. There is an obvious
deformity of the right forearm, various bruises, and
otherwise unremarkable exam. Next test should be CT
scan of head.
* Head trauma is a common cause of childhood
hospitalization and even larger number of ED visits.
* Serious head trauma is usually secondary to motor
vehicle accidents, sports, recreation, violence (in
that order).

* Infants need to be in a car seat on their first ride

home from the hospital. Infants face rear, safest place
is back seat in the middle. At 1yr and 20lbs, car seat
can face forward. Safest place is still back seat in
middle. At age 4 or 40lbs, can get booster seat. By age
7, can use regular seatbelt. Adults should always wear
seatbelts. No child under the age of 13 should be in
the front seat if passenger side airbag. Short adults
shouldnt be in the front seat either if passenger side
* Anyone riding a bicycle should be wearing a bike
helmet, children and adults. About 200 deaths per year
under the age of 16 of children from riding bicycles.
* 55,000 injuries per year from trampolines (2000),
anything from twisting ankle to breaking neck.
* Presentation of head injury depends on trauma, may be
with or without deficit. Children with neurologic
deficits may have a history of a lucid interval,
suspect epidural hemorrhage.
* Epidural needs craniotomy and evacuation, subdural
probably does too.
* Epidural hematoma is lenticular or lens shaped on
head CT. Subdural hematoma is crescent shaped on head
* Battle sign bruising behind the ear, Raccoon eyes
bruising around the eyes, and hemotympanum blood behind
ear drum associated with basilar skull fracture. Do not
place nasal tubes (NG, nasal airway) in this case.
* Otorrhoea or rhinorrhea after head injury, think CSF
leakage and basilar skull fracture.

* Ring test for CSF, put drop of fluid on filter paper

and blood will stay in the middle with a yellowish ring
around the blood, implies this is CSF.
* Concussion is the most common head injury seen in
children. Usually brief loss of consciousness then
returning to normal (e.g. boxer getting knocked out).
* Disturbances of vision and equilibrium can occur.
Concussions divided into different grades.
* Grade I concussion is with confusion, no amnesia, no
loss of consciousness.
* Grade II concussion is with confusion and amnesia, no
loss of consciousness.
* Grade III concussion is with confusion, amnesia, and
loss of consciousness.
* Grade I concussion without symptoms can go back to
sports after 20 minutes.
* Grade II concussion without symptoms for a week, can
return to sports after a week.
* Grade III concussion without symptoms for a week,
can return to sports after a month.
* Grade I concussion after second time, without
symptoms for a week can go back to sports after a week.
* Grade II concussion after second time, without
symptoms for a week can go back to sports after a
* Three Grade I, Two Grade II, or Two Grade III, take
the rest of the season off.
* Mild concussions not usually associated with

* Retrograde (cant remember what happened) and

antegrade (cant form new memories) amnesia can occur.
Example would be kid remembering playing a sport then
next thing they knew they were in the hospital.
Antegrade issue would be meeting the patient, leaving,
then coming back and they dont know who you are.
* Some patients may develop post-concussion syndrome
with memory loss, confusion, and depression.
* Epidural hematoma is a rapidly occurring bleed
between the dura and the cranium. Look for trauma, loss
of consciousness, lucid period, then loss of
consciousness again.
* Epidural hematomas associated with middle meningeal
artery laceration.
* Subdural hematomas occur with tearing of the
bridging veins. Can occur from head trauma and child
* Subdural can be caused by arterial lacerations also.
* Contusion is a bruising of the parenchyma of the
brain, usually frontal and temporal lobes. This causes
punctate hemorrhages on head CT scan. So not between
brain and cranium, in parenchyma itself.
* Contusion treatment is usually observation. Can
develop cerebral edema, can get herniation if severe
enough, manage intracranial pressure increases in these
patients (e.g. mannitol).
* CT scan should be done on a child with loss of
consciousness greater than 1 minute or if there is a
question of loss of consciousness (e.g. no one saw it
happen), abnormal neurologic findings, deteriorating
neurologic status.

* Also do cervical spine films and keep neck

immobilized until it is cleared.
* Treatment is ABCs first, cervical spine injury (back
pain, pain radiating to arm, neck/back bruising).
* Many patients with head trauma will have drowsiness
after the injury, but usually easily aroused, may
complain of headaches and vomiting. If no loss of
consciousness, physical exam alright, probably can send
them home.
* Headaches and vomiting for first few hours after head
injury is normal. If it persists, then worry (do CT
* Head trauma can cause transient neurologic symptoms
can last for minutes to hours, can get occipital
blindness, confusion, malignant post-traumatic cerebral
swelling, seizures.
* Child with worsening symptoms should suspect subdural
or subarachnoid bleed. Recovery varies.

Submersion Injuries:
* 15mo was found with his head stuck in a bucket
filled with cleaning agent. The mother says she
received a telephone call. She was only speaking on the
telephone for 5 minutes. This is a common scenario.
* Drowning is a submersion that results in asphyxia and
death while submerged or within one day of the episode.
* Survival after 24h of submersion is near-drowning,
whether patient dies or not.

* Near drowning is the second

accidental death in children.
U.S. About 40% of victims are
Majority of drowning occur in

most common cause of

8000 drowning/year in the
under the age of 4yo.
freshwater (pool, lake,

* At risk population are males/adolescents (feel that

they cant die), unsupervised toddlers, children with
seizure disorders, and concomitant use of drugs and
alcohol (e.g. driving while drunk).
* Home is most common site of drowning. Swimming pools,
water slides, hot tubs, bath tubs, toilets, buckets,
washing machines, drainage ditches,
* Wet drowning is with aspiration of fluid. Most
drowning start at dry drowning due to laryngospasm to
prevent aspiration, eventually you gasp for air and
* Freshwater drowning may cause more lung damage
secondary to hypotonic fluid that flushes out the
surfactant. Salt water drowning tend to have more
pulmonary edema. Treat hypothermia.
* Obtain CXR, blood gases, consider cervical injuries
(e.g. diving). Treatment is supportive, prevention is
* Lungs can be eventually fixed, main problem that
cannot be fixed is hypoxia and ischemia to the brain.
* Neurologic injury is the main cause of mortality and
* Water has to be very cold to get neuro-protective
effect. Patient must be warmed as part of

Thermal Injuries:
* 2yo comes to ED after being splashed by hot coffee
after it was pulled from the table when he pulled the
table cloth. He has first and second degree burns.
* Burns can occur from spillage, fire, chemical,
electrical. Electrical burns can be deceptive in their
* Burns are the second leading cause of death in
* Scald burns are 85% seen in children < 4yo, typically
story is child pulling something off the table or
stove. Also can be seen in abuse, when child is dipped
into very hot bath water.
* First degree burn is erythema (e.g. sunburn), second
degree burn has blister, third degree is full
thickness. Fourth degree is down to bone with
* Rule of 9s is different in children, more surface on
head in infant. Rule of the palm used for < 10% where
childs palm is about 1% of burn surface area.
* Parkland fluid resuscitation formula is 4mL/kg
* Do not include first degree burns for Parkland
formula. Just include second and third degree burns.
* Remember deficit (Parkland) is at time of burn, if
child arrives 2 hours later you are 2 hours behind.
* Give half of fluid deficit over first 8 hours then
next half over 16 hours (24 hours total).

* Do not forget analgesia. Burns hurt immensely. Also

assess tetanus status.

Orthopedics: Limping:
* Most common cause of limping in a child is acute
* Age 0-4yo limping, think about developmental
dysplasia of the hip.
* Age 4-8yo limping, think about Legg-Calve-Perthes
* Adolescent limping, think about slipped capital
femoral epiphysis.
* 5yo boy has developed progressive limping. At first
its painless, it now hurts to run and walk. The pain
is in the anterior thigh and is relieved by rest.
Parents recall no trauma. This is Legg-Calve-Perthes
disease, ages 4 to about 12yo. It is an avascular
necrosis, hip femoral head vascular supply interrupted.
* Legg-Calve-Perthes disease can occur after trauma,
but cause unknown.
* Transient synovitis or venous congestion can also
cause Legg-Calve-Perthes disease.
* Hyperviscosity and coagulation abnormalities have
been implicated.
* More commonly seen in boys, 20% bilateral. Usually
painless limping initially, but can progress with pain
worse with activity and relieved by rest.

* Pain may be referred to the groin, hip, thigh, or

knee. If patient has knee pain, think about the hip as
* First step in management is an x-ray of the hip, both
sides. Youll see destruction at the femoral head.
* Follow-up films are also helpful, will show the
femoral head coming back to normal (takes a couple of
* Goal is to maintain joint mobility. Keep hip in the
acetabulum, via bracing and maintain child activity.
* Complications of Legg-Calve-Perthes disease includes
* DDX for Legg-Calve-Perthes disease includes trauma.
* Developmental dysplasia of the hip x-ray will show a
wider hip (femoral head to acetabulum) on one side.
* 20% family history with developmental dysplasia of
the hip. Associated with breech positioning,
* Developmental dysplasia of the hip is a spectrum of
disease from a loose hip to a dislocated hip.
* Physical exam will feel a clunk or click on Barlow or
Ortolani test
* Ortolani, hold trochanters, hips brought in and out.
Knees not involved as they can slip, which is normal.
* Next step in management is hip ultrasound, which can
be diagnostic in a newborn.
* X-rays helpful later on, frog-leg position.

* Treatment includes Pavlik harness, keeps femoral

head in joint close to acetabulum, acetabulum grows
* Treatment down the road could involve casting, so
early diagnosis is better.
* Overweight adolescent with limping and pain referring
to knee. Think slipped capital femoral epiphysis.
* Child tends to take antalgic position, leg rotated
externally to reduce pain.
* Test to order is suspecting slipped capital femoral
epiphysis is TFTs (T4, TSH), FSH, LH because there is a
higher risk for endocrine problems and hypogonadism.
Orthopedics: Scoliosis;
* 12yo girl is seen for routine physical exam. She
voices no complains. Exam is remarkable for asymmetry
of the posterior chest wall on bending forward. One
shoulder appears higher than the other when she stands
* Scoliosis is an abnormal curvature of the spine due
to misalignment of the spine in the frontal plane.
* Scoliosis can occur at different ages. Most causes
are idiopathic, other causes include hemivertebra.
* Scoliosis is usually painless and diagnosed on
routine physical exam via Adams test (forward bending).
* Best test to diagnosis scoliosis is x-ray.
Radiologist will tell you degree of curvature (Cobb
* Treatment usually not needed for mild curvatures.

* Treatment for more severe curves includes bracing or

even vertebra fusion.
* Exercise and electrical stimulation have not been
shown to help with scoliosis.
* Complications include joint disease,
cardiorespiratory disease if severe enough curve.
* Infantile scoliosis (0-3yo), juvenile scoliosis,
adolescent scoliosis.
* Congenital scoliosis with hemivertebra and is
associated with genitourinary abnormalities such as
horseshoe kidneys, congenital heart disease, and spinal
dysraphisms (e.g. spina bifida).
* Congenital scoliosis may require earlier surgical
intervention to prevent worsening curvature.
* Neuromuscular diseases associated include cerebral
* Neurofibromatosis, Marfan, and VACTERL (VATER)
syndromes associated with scoliosis.
* VACTERL: Vertebral anomalies, Anal atresia,
Cardiovascular anomalies, Tracheoesophageal fistula,
Esophageal atresia, Renal (Kidney) and/or radial
anomalies, Limb defects.

* Actual immunization schedule months not as important
as timing between immunization shots.
* Baby had a temperature of 103F and cried consolably
for 2 hours after receiving a DTaP vaccine. What is

your advice to the mother prior to administering the

next set of immunizations?
* This is a normal reaction to vaccination. Do not
withhold vaccinations due to fever.
* Immunity is resistance of a body to the effects of a
deleterious agent, such as a pathogenic microorganism.
* Types of immunity are acquired, active (antibody
produced in response to vaccine or toxoid), passive
(giving preformed antibodies), natural (exposed to
agent), herd.
* Herd immunity means if enough immunizations are given
in a certain population, those who are not immunized do
not have to worry about disease since there will be no
disease. This is a very important concept in almost all
immunizations as a group of people cannot get
immunizations (e.g. chemotherapy, immunosuppressed,
etc.) so the responsible public protects these
individuals by herd immunity.
* Herd immunity is a great concept, but people may ask
why does one child have to run the risk of an
immunization and another does not. This was part of the
reasoning behind the vaccines/autism fiasco; the
thought is that if vaccines can cause autism then one
can be selfish and let the rest of the population get
vaccinated while the selfish individuals reap the
benefits of herd immunity. However, this increases risk
for those who do not have the luxury of choice for
vaccination (e.g. immunocompromised). Deaths from
preventable disease have occurred in unvaccinated
populations, even today (2001-2009) such as the MN
death in 2008 from Hemophilus influenzae B (Hib).

* Vaccinated population must reach 90%, in general,

for herd immunity protection.
* DTaP is toxoids for diphtheria, tetanus, pertussis.
Oral polio no longer used. Polio vaccine now is killed.
MMR is a live vaccine, measles, mumps, rubella. HepB is
a recombinant vaccine, so no live component. Varicella
has live component like MMR. Influenza is live also.
Pneumococcal vaccine also available.
* IM injections for non-live vaccines, subcutaneous
injections for live component vaccines.
* Inactivated vaccines can be given simultaneously at
separate sites, except cholera, typhoid, and plague.
* Live virus vaccines which are not given on the same
day, should be given at least a month apart. So give
MMR and varicella a month apart if they are not both
available on the same day.
* Pneumococcal and whole-virus influenza can be given
simultaneously at different sites.
* Egg hypersensitive is bad rash, angioedema,
anaphylaxis, or other serious reaction.
* Measles, mumps, influenza, yellow fever, and combined
MMR vaccine are grown in eggs. Either avoid the
vaccines with true egg hypersensitivity or desensitize
first. If unknown egg hypersensitivity, risk is very
low for an anaphylaxis reaction with vaccination. Must
be known and/or documented serious egg reaction.
* Neomycin and streptomycin are contained in killed
polio and MMR. So avoid if neomycin allergy.
* Vaccines have been free of thimerosal (mercurycomponent) since 2001. Risk of catching disease from

non- vaccination is much higher than risk (if any) of

thimerosal component issues.
* Not vaccine contraindications: reaction to previous
DPT with temperature less than 105F, redness soreness
swelling at shot site, mild acute illness in otherwise
well child, child on antibiotics, preterm child, family
history of seizures, family history of sudden infant
death syndrome (SIDS).
* With delayed immunizations, rule is to give as many
as you can when you can.
* Immunization time frame is less important than the
order of immunizations.
* Hepatitis B (HBV) vaccine timing depends on if the
mother is HBsAg positive. If mother is HepB surface
antigen negative, then give vaccine at birth, one
month, or two months of age. Next scheduled does will
be 1-2 months after first vaccine, third dose given 618 months after first vaccine. This is the same
schedule used for anyone who has not received the
vaccine before.
* If mother is HBsAg positive, give HBV vaccine at
birth and give baby HepB immune globulin (HBIG). Do not
wait 1-2 months for next vaccine, give second vaccine 1
month later and give third vaccine 6 months after
first. This schedule is more rigid. HBIG given at a
separate site from the HBV vaccine because it can
inactivate it.
* DTaP is given at 2mo, 4mo, 6mo, and 15-18mo, then
last dose around 4-6yo prior to starting school. Must
get 4 doses of DPT to get into school if the last does
was after 4yo. Should get 5 doses ideally.

* Tetanus booster given every 10 years after DTaP

series, unless you get a dirty cut/wound 5 or more
years after the last tetanus. If it has been 5+ years
since last tetanus and patient has dirty wound (e.g.
burns, stepped on nail) then must give the patient
tetanus toxoid.
* Tdap (tetanus and diphtheria toxoids with acellular
pertussis) given at 11-12yo. Only one dose needed.
* Acellular pertussis has greatly reduced side-effects
(e.g. fever).
* Hemophilus influenzae type B (Hib) given at 2mo, 4mo,
12-15mo. Another manufacturer is a 2mo, 4mo, 6mo, and
12-15mo vaccination. So the 6mo shot for Hib is
manufacturer dependent, do not mix and match the shots.
* Oral polio no longer administered to anybody.
Everyone gets the inactivated polio (IPV) at 2mo, 4mo,
6-18mo, and age 4-6 prior to starting school.
* Pneumococcal vaccine was 23-valent, no 7-valent,
newer 13-valent (2010). Given at 2mo, 4mo, 6mo, and 1215mo of age.
* MMR given 12-15mo age. Booster at 4-6yo prior to
starting school.
* Varicella given 12-18mo age as one vaccine. If older
than 11yo give as two vaccines, 4 weeks apart.
* Rotavirus shot or oral given at 2mo, 4mo.
* Hepatitis A started after 12mo of age, 2 doses needed
at least 6mo apart. Some controversy on need.
* Meningococcal vaccine started after 2yo. Give MCV for
those at high risk, such as persistent complement
deficiency or anatomic/functional asplenia.

* Influenza vaccine (seasonal) given annually after

6mo. Now recommended for everyone.
* When child gets immunization, you are not
automatically protected. It takes a couple of weeks to
develop antibodies and get titers up. No vaccine is
100% effective.
* If you get pertussis then you dont really need the
pertussis portion of the vaccine.
* If you get invasive hemophilus influenzae B before
24mo of age, you still need the vaccination.
* Once older than 15mo of age, you only need one
vaccination of Hib. No need to get another for catchup.
* Hib should not be given after 60mo of age (5 years of
* If there is a gap in immunizations, there is no need
to start over again.
* If patient has HIV, divide into mild versus moderate
HIV (asymptomatic) and into severe immunosuppression.
* DTaP can be given to any patient with HIV because it
is not a live vaccine.
* Oral polio should not be given to anyone. Killed
polio is alright for HIV.
* MMR is recommended for patients with mild to moderate
immunosuppression but is not recommended with severe
immunosuppression as the vaccine could cause disease.
* Hib is recombinant so it is not a problem.
Pneumococcal is fine.

* Influenza should be given even for severe

* Varicella vaccine should be considered even though it
is a live attenuated vaccine.
* Adverse side-effects seen with DTP are local redness,
local swelling, local pain, fever > 38C (100.4F),
drowsiness, fretfulness, anorexia, vomiting, crying >
3hrs. Fever is very common with DTP prior to DTaP.
* MMR side effects do not occur right away, they occur
about 7-10 days after vaccination.
* Measles component can cause fever and measles-like
rash. Mumps can cause swelling. Rubella can cause
arthralgia and adenopathy.
* MMR side effects include febrile seizures and
reversible encephalopathy.
* Pregnant women should not get the MMR vaccine due to
congenital rubella risk. If the women is pregnant and
has a child at home, the child at home can get the MMR
vaccine because it is attenuated and even if they shed
the virus the mother is immune-competent so will not
get the disease.
* Delay getting MMR if gamma-globulin or immuneglobulin was given in the past 3 months as this would
decrease the effect of the vaccine.
* Contraindications to MMR include anaphylaxis,
immunodeficiency (cancer, leukemia), severe HIV
immunosuppression, chemotherapy, radiation therapy.
* There is no proof that the MMR vaccine causes autism.
Autism is usually picked up before 30mo of age so it is

usually diagnosed around the time of the MMR vaccine, a

coincident. Get children immunized.
* Hib side effects include local swelling, fever,
invasive Hib disease under 2yo does not confirm
* Pneumococcal vaccine given to prevent meningitis, not
otitis media or sinus infections.
* Influenza side effects are redness, tenderness,
swelling, mild flu symptoms, now recommended for
everyone. Prior recommendation were chronic lung
disease, health care workers, hemoglobinopathies, etc.
* Meningococcal vaccine is recommended if traveling to
endemic area, does not cover all serotypes.
* HepB vaccine given because there are 5,800 deaths per
year from HepB plus 300,000 new cases per year and
about a million carriers. The younger you are to get
hepatitis, the greater the risk of liver failure later

* 5mo infant presents with 39C fever. Mother states
child is less active and has a decreased appetite. On
physical exam, no focus of infection can be found. This
is a common dilemma for the pediatrician.
* Definition of fever is temp > 38C (100.4F)
* Fever of short duration without localizing signs is
short duration. Fever without focus is less than a week
in duration in children less than 36mo of age. Fever of

unknown origin, a specific diagnosis meaning fever >

14d in child and > 21d in adolescent or adult.
* Fever without focus occurs in about 5% of children
less than 36mo of age.
* Babies are immuno-nave. They are at higher risk to
develop many infections, septic arthritis, meningitis,
* Children under 24mo are at very high risk for
infection. Sometimes not very specific signs of
* Organisms that may be responsible are group B strep,
E. coli, listeria. Others include salmonella,
* Most common cause of fever in children (and adults)
is viruses.
* Children older than 3mo of age with temps > 38.9
(102) are at risk for fever without a focus (occult
* We can get bacteremia by brushing our teeth, but we
clear it easily.
* What should you order on these patients? CBC with
differential and smear. May see Dhle bodies on a
* Risk factors for occult bacteremia include age <
24mo, fever > 104, WBC > 15000.
* Order CBC and blood culture first. May toss in urine.
Culture any suspicious lesions.
* If child has sickle cell disease, be suspicious for
pneumococcal infections.

* Risk factors also include AIDS, immunodeficiencies,

sick contacts, toxic clinical appearance and petechia.
* All infants less than
suspicion for infection
hospital and started on
negative, then consider

a month old with fever and

should be admitted to the
antibiotics. If cultures are
stopping antibiotics.

* If less than a month of age, cover group B strep,

listeria, E. coli, meaning start ampicillin and 3rd
generation cephalosporin or ampicillin and an
* Children > 1mo of age who appear well and have been
in good health are unlikely to have serious illness if
their counts are between 5-15000 and absolute band
count less than 1500. You may give ceftriaxone (or
cefotaxime plus ampicillin) if they appear well without
a source for the fever while waiting for cultures. If
they appear ill, admit.
* Third generation cephalosporins to no cover listeria
well so ampicillin is given.
* Follow up with a phone call, have the child come
back, check cultures.
* 18mo child presents with temperature of 39C, the
patient is alert and happy. The mother states that the
child has been eating well, has good urine output, and
has no evidence of localized infection.
* Most common organism for occult bacteremia is strep
pneumonia in this age group.
* Blood culture should be performed whenever you
suspect occult bacteremia. Count > 15000 is high risk
for having a positive blood culture.

* Without therapy, occult bacteremia may resolve

spontaneously in this age group or lead to localized
infection such as meningitis or septic arthritis.
* Non-toxic patients get empiric therapy with third gen
cephalosporin and follow-up.
* Toxic patients should consider spinal tap, start
antibiotics, admit.
* If positive blood culture and child looks better, may
not need to treat further.

* 6yo presents to the ED with fever, headache,
vomiting, neck ache, and photophobia. Physical exam
reveals an ill- appearing child unable to flex his neck
without pain. Kernig and Brudzinski signs are positive.
* 6mo cannot have Kernig, Brudzinski, complaints of
neck pain.
* In infant, may get neck rigidity but best sign is
bulging fontanelle. Examine fontanelle while child
sitting up.
* Meningitis is inflammation of leptomeninges.
Bacterial meningitis is usually from hematogenous
* Neonates get group B strep meningitis. Anyone 2mo and
up you should think about strep pneumonia.
* Neisseria meningitidis is common in any age group.
Scenario is college student in dorm or military

* Risk factors for meningitis are splenic dysfunction,

asplenia, meningomyelocele, day-care.
* Patients with sickle cell disease specifically think
about pneumococcus for meningitis.
* Pneumococcus also seen with facial trauma leading to
CSF leak.
* Patients with ventriculoperitoneal (VP) shunts you
should think staph.
* Patients who are immunocompromised, all bets are off.
Could be anything including pseudomonas.
* Infants can just be irritable, restless, and feeding
poorly, may have a fever or not.
* Older children can have fever, headache, neck pain,
photophobia, vomiting.
* Purpuric lesions seen with DIC, not pathognomonic
for meningococcus. If it is meningococcus, the lesions
can be scraped and cultured. Pneumococcus can cause DIC
as well.
* CSF pyogenic: 200-5000 cells, PMNs, low glucose, high
protein, high lactic acid, high pressures.
* CSF partial treated: same as pyogenic but mostly
PMNs, possibly negative cultures.
* CSF granulomatous: 100-600 cells, lymphocytes, low
glucose, high protein, high lactic acid, high pressure.
* CSF aseptic: 100-700 cells, PMN to lymphocytes,
normal glucose, slightly high protein, normal LA and

* CSF neighborhood reactions: 100-500 cells, variable

type of cells, normal glucose, variable protein, normal
lactic acid, variable pressure.
* Low glucose in CSF (hypoglycorrhachia) is related to
blood sugar. Normal CSF glucose is 1/2 to 2/3 of
simultaneous blood sugar.
* High protein in CSF is 45 and above. Pre-term infants
can get up to 100-140 for normal. After 3-5mo, use 45.
* Granulomatous implies tuberculosis meningitis. Acid
fast bacilli will not show on Gram stain but will
* Neighborhood reaction means another infection in the
brain, e.g. abscess, causing meningeal irritation.
* Meningitis treated with antibiotics and supportive
care. Corticosteroids given if suspected Hib to
decrease hearing loss. No major benefit shown, but if
steroids given otherwise they should be given prior to
* Aseptic meningitis occurs in the summer and fall,
usually viral.
* Sometimes bacterial meningitis CSF will not grow if
patient is partially treated with antibiotics.
* Treatment for aseptic meningitis is supportive,
unless patient has herpes simplex meningitis then give
* 4wk old presents with suspected meningitis, tap shows
15 cells, worry about herpes simplex meningitis.
* Complications include death, neurologic complications
are common such as hearing loss, mental retardation,
seizures, developmental impairment, behavioral

problems, hydrocephalus, ataxia, palsy, stroke,

herniation, effusion.
* Patient with meningitis is treated and spikes a fever
a week later. Do a CT of the head looking for sub-dural
effusions. These are common with Hib.
* Other complications during the disease include SIADH.
* DDx includes toxins, ingestions, malignancies.
* Prevention is via immunizations, treating close
contacts with rifampin if theyve had H. flu or
neisseria exposures.

* 10yo presents with fever and altered mental status.
The parents state that over the past 24h the patient
has been extremely combative. There is no evidence of
trauma or drug intoxication.
* Encephalitis has more disorders of mental function
than meningitis. Look for combative and hallucinations.
* Encephalitis usually caused by arbovirus. Saint Louis
encephalitis is spread by birds. California
encephalitis is spread by rodents and mosquitoes.
Western Equine carried by mosquitoes and birds. Eastern
Equine carried by mosquitoes and birds. Colorado Tick
Fever carried by ticks. West Nile by mosquitoes and
* Presentation is similar to aseptic meningitis but
more confusion, delirium, combative, hallucinations.
* History is important. Always ask about exposure to
persons or animals, mosquitoes in the area.

* Immunofluorescence testing, ELISA testing, IgM

testing can be done. CSF may not show a lot.
* If testing is needed, do polymerase chain reaction
(PCR) on the CSF. Do not do brain biopsy.
* MRI or EEG can be done. If anything is seen remotely
close to the temporal lobe then think HSV and put them
on acyclovir. Treatment is supportive.
* Differential includes toxins, trauma, hypoglycemia,
Reye syndrome, inborn errors of metabolism.
* Post-infectious encephalitis can occur after MMR
vaccine. Rarely trypanosomiasis and malaria.

* 12mo infant presents to the physician with a chief
complaint of refusal to bear weight on his left lower
extremity. The mother states that the child had an ear
infection one week ago. The patient was prescribed
antibiotics but the mother states she did not fill the
* Osteomyelitis in children usually occurs from
hematogenous spread, but can occur from contiguous
spread from surround cellulitis or via direct
inoculation from penetrating wounds.
* Osteomyelitis seen in boys twice as often. Most
common organism is staph aureus, so always cover staph.
* Group B strep and Gram negative bacilli are
important pathogens especially in the neonate.
* Patients with sickle cell disease most commonly get
staph aureus, but salmonella is second most common.

* Pasteurella multocida is common if there is a dog

* Pseudomonas seen with puncture wounds as pseudomonas
lives in the foam of the sneaker. Nail goes through
shoe, picks up pseudomonas from foam, then inoculates
your foot.
* Infants usually do not have systemic signs but will
have pain on movement of the extremity.
* Older children will have fever and complain of pain
in the affected area. Will refuse to bear weight,
decreased range of motion, physical exam will have
cardinal signs of inflammation (calor, dolor, tumor,
* Hip pathology refers pain to the knee.
* Lab tests to order include CBC, C-reactive protein,
sed rate, blood cultures (positive 60% of time).
* Sed rate is a non-specific test, just tells you there
is inflammation as it is an acute phase reactant.
* Sed rate is useful later for following treatment of
* Bone culture is the best test as it will tell you the
organism. X-ray is helpful but may not be positive
* X-ray takes about 10-14 days to show periosteal
elevation. More sensitive test is bone scan.
* Treatment is based on cultures, but cover staph
initially. Treat for 4-6 weeks of antibiotics.

Septic Arthritis:

* 5yo presents with fever, knee pain, limp. Physical

exam shows knee is red, warm, and swollen with limited
range of motion. The knee is exquisitely painful on
* Septic arthritis is an infection of the joint space.
If you suspect this, it is an emergency to be treated.
* In newborns, think staph, group B strep, Gram
negative bacilli.
* Up to 5yo, think staph and strep. Hib if history of
incomplete immunizations.
* Patients > 5yo is likely Gram positive cocci (staph).
* Spread is likely hematogenous, but can be from
cellulitis or direct inoculation or from osteomyelitis.
* Look for acute onset of fever and refusal to bear
weight on the extremity with decreased range of motion.
* White count and sed rate are elevated and nonspecific. Test of choice is arthrocentesis, joint
* Ultrasound is useful for hip fluid, but best test is
tapping the joint.
* Treatment is antibiotics depending on culture and
sensitivities. Length of treatment is less than
* DDx includes overlying cellulitis, rheumatic fever,
juvenile rheumatoid arthritis, toxic synovitis (history
of preceding viral infection particularly varicella).
Always consider leukemia.
* 1/4 of acute lymphoblastic leukemia (ALL) will
present with joint pain or bone pain.

* 10yo child is referred from the school nurse
because of a positive tuberculin test. The patient has
been doing well without any complaints.
* TB caused by mycobacterium tuberculosis, an acid fast
* Risk factors include elderly, immigrants, and
patients with AIDS.
* More common in crowded societies and those with lower
socioeconomic status, but can affect anyone.
* Congenital TB is transferred across the placenta but
is rare. Most infections due to aerosol droplets.
* Most children are less infective than adults due to
decreased cough in comparison with adults.
* A healthy host will wall off the organism, causing a
Ghon focus. Ghon complex has associated lymph node.
* Primary pulmonary TB is usually asymptomatic in
children. Symptomatic patients have malaise and low
grade fever. Progressive pulmonary TB can cause
* PPD is cheap so do one in any child with pneumonia.
* Some patients will have fever, weight-loss, night
sweats, hemoptysis (classic symptoms).
* Upper respiratory tract TB can involve the larynx and
middle ear, persistent coughing, hearing loss.
* CNS infection can cause meningitis.

* Bone and joint disease can lead to Pott's disease in

the vertebral bodies, causing kyphosis and scoliosis
* Best test for diagnosis is the interferon-gamma
release assays (IGRAs, QuantiFERON Gold). Previously it
was the intradermal PPD test. Tine test no longer used.
* PPD reaction greater than 5mm induration (not
redness) is positive if TB exposure or HIV.
* PPD in health care workers or other adults look for
reaction greater than 10mm induration. 15mm for low
* BCG vaccination can lead to a false-positive PPD. If
positive, you need an x-ray.
* Read PPD test at 48-72 hours after placement. May see
upper lobe infiltrates in older children on CXR with
* Children will not be able to produce sputum for you,
so wont be able to do cultures unless intubated. So,
test to do is an early morning gastric wash aspirate.
Put NG tube when they wake up and suck it out. During
the night the child coughs up sputum and swallows it.
* Treatment is isoniazid (INH), rifampin, pyrazinamide,
ethambutol, streptomycin. Worry about multiple-drug
resistance in children. If just turned positive with
CXR, 9-months of INH.
* With actual TB disease, put on multi-drug therapy.
* INH side-effects include hepatotoxicity (more common
in adult) and neuritis secondary to pyridoxine
deficiency. Give vitamin B6 (pyridoxine) with INH.

* Rifampin can change body secretions orange or orangered. Contact lenses can get discolored. It can also
cause hepatotoxicity and thrombocytopenia.
* Pyrazinamide is hepatotoxic. Streptomycin is ototoxic
and nephrotoxic.
* Ethambutol is ocular toxic, usually not recommended
in children when you cannot do ocular exams.
* If mother has TB at delivery, separate infant from
mother until CXR taken. If CXR positive for mom, then
keep infant separate from mother until sputum checked
for acid fast bacilli. If evidence of disease, begin
therapy and place infant on INH. Now they are both
being treated so no need to separate.
* Separation of mother from child only recommended if
mother hospitalized for TB or drug-resistant TB.
* In children, progression of disease is more common in
the first year of infection and in children < 5yo.
* Reactivation is common in adolescence, especially in
the apical segments of the upper lobes.
* Patients with reactivation will have classic fever,
night sweats, hemoptysis.
* Miliary TB is hematogenous spread throughout the
entire lung.
* TB meningitis can occur within 6mo of the primary
* Prevention of TB is to treat those infected to
prevent spread. BCG not commonly used in the U.S.
* Active of untreated TB is a contraindication to

* 10mo child who is delayed in immunizations presents
with paroxysmal cough. The patient appears ill and
continuously coughs throughout examination. The patient
has facial petechia and conjunctival hemorrhages. In
addition, the patient has post-tussive emesis.
* Pertussis cough is continuous coughing until only
residual volume left, then quick deep gasping
* Complications include pneumothorax.
* Deep inspiration at end of coughing is a whoop, which
is why pertussis also called whooping cough.
* Caused by Bordetella pertussis. Usually does not
occur less than 3mo of age.
* Incubation period is 3-12 days. Children are at
higher risk under 5yo. Look for history of incomplete
* Infants do not have typical cough and may present
with apneic episodes.
* Children have cough and can get cyanosis.
* Stages of pertussis are catarrhal stage, which is
like the cold lasting 1-2 weeks with rhinorrhea and
conjunctivitis. Classic cough seen in paroxysmal stage,
lasting 2-4 weeks, also facial petechia due to burst
capillaries from high pressures of cough. Convalescent
stage lasts 1-2 weeks, continued coughing spasms but
are decreasing.

* Physical exam may show conjunctival hemorrhages due

to forcefulness of the cough. Lungs likely are clear.
* Other symptoms can be fever, hoarseness. Wheezing,
rales usually absent.
* CBC for pertussis will show elevated WBC with
lymphocytosis; leukocytosis with lymphocytosis.
* Culturing Bordetella pertussis is the best way to
* Direct fluorescent antibodies from direct nasal
washes can be done, but culture is best.
* The higher the WBC > 30,000 the greater the
likelihood of finding a CXR infiltrate.
* Treatment consists of supportive care. Coughing with
apnea spells could mean intubation and ventilator.
* Erythromycin is given but it does not change the
course of the disease. It make them less contagious.
Also, treat household contacts with erythromycin.
* Immune globulin is not recommended. Consider
vaccinating anyone who is not or may need a booster.
* Complications include apnea, pneumonias,
atelectasis, pneumothorax from plugging/coughing,
seizures, encephalopathy due to neurotoxicity, and

Cat Scratch Fever:

* 6yo presents with a sore,
anterior cervical lymph node.
night sweats, or sore throat.
include a kitten, turtle, and

swollen, erythematous
He denies fever, chills,
The patients pets

* Turtles (reptiles) can give salmonella.

* Cat scratch caused by Bartonella henselae. Cat
scratch disease from biting or scratching, kitten
transmit the disease better than cats do.
* Range for incubation is 3-30 days so cat exposure may
have been forgotten.
* Inoculation site starts with red papule, then will
become a linear row of papules with regional
* Lymphadenitis usually noted around 1-4 weeks, nodes
can remain enlarged for up to 2 months.
* Patients can have fever, headaches, anorexia,
* Parinaud oculoglandular syndrome is unilateral
conjunctivitis, preauricular lymphadenopathy +/cervical lymphadenopathy can sometimes occur from
rubbing eye after contact with cat.
* Exam is relatively normal except for enlarged lymph
* Regular labs are not helpful. Best test is to
aspirate the node and do a Warthin-Starry silver stain.
* Cat scratch disease usually resolves on its own in 24mo. Remove node if painful, send to pathology.
* Treatment can include macrolides (azithromycin,
* Complications include encephalopathy, seizures,
altered mental status, macular retinopathy.
* DDx includes lymphoma, lymphadenitis, TB,

Lyme Disease:
* 6yo child presents with a rash after camping in
Long Island with his family. On physical exam the rash
has a red raised border with central clearing.
* Lyme disease caused by Borrelia burgdorferi from the
Ixodes dear tick, a very small tick.
* Stage I is erythema migrans rash with central
clearing, bulls eye rash, erythema chronicum migrans.
* Erythema migrans occurs 3-32 days after the tick
bite. Usually it is 7d after bite, malaise.
* Stage II is early disseminated disease, neuro and
cardiac involvement like aseptic meningitis, Bell
palsy, neuropathy, AV heart block.
* Stage III is arthritis.
* Diagnostic test with history of tick bite and/or
rash, get antibody titers to Borrelia.
* Treatment of stage I is doxycycline or amoxicillin.
Children < 8yo should not get doxycycline, few
exceptions. Other options are erythromycin or
* Treatment of stage II is ceftriaxone or penicillin G.
Stage III treatment is same as II but treat longer.
* Vaccine exists for Lyme disease but not given to
everybody, only in endemic areas.

Erythema Infectiosum:

* Erythema infectiosum also known as fifth disease

and slapped cheek fever. Fifth disease because it was
the fifth rash disease to be described.
* 4yo is bought to the physicians office because she
developed red cheeks that appears as if someone slapped
her. She has a lacy rash on her upper extremities and
* Erythema infectiosum is caused by parvovirus B19,
human transmission through respiratory secretions.
* Incubation period is 4-28 days.
* After slapped-cheek sunburn-like rash, child develops
a lacy reticular rash. At this point the child is not
contagious so they can go back to school.
* Parvovirus B19 can cause aplastic anemia. If mom is
pregnant and around someone with parvovirus B19 she can
get hemolysis or aplastic anemia leading to hydrops
* No need for treatment. IV Ig is given if

Measles (Rubeola):
* Mother presents to physician with her adopted
daughter who has just arrived to the United States from
a foreign country. The immunization record is not up to
date. The child has coryza, cough, conjunctivitis, and
fever. The mother states the child has a rash that
began cephalad and spread caudad. On physical exam, a
morbilliform rash is seen over the body including the
palms. Tiny grayish white dots are seen on the buccal

mucosa next to the third molar. The dots are Koplik

spots. Coryza is head cold symptoms, like runny nose.
* Measles caused by a paramyxovirus. Can also be seen
in high school or college students, which is why you
need to be re-immunized. Either the virus has changed
or vaccine is no longer effective.
* Look for hard K sounds: cough, coryza,
conjunctivitis, Koplik spots.
* Koplik spots are only present for about 12 hours. If
you see them, you can predict that the child will break
out in a rash soon. Patient will have a fever at the
same time as the rash.
* Diagnosis is made clinically, but you can get rubeola
titers seeing a rise in convalescent titers.
* Multinucleated giant cells may be seen from nasal
mucosal smears during the prodromal stage.
* Treatment is supportive. Vitamin A is recommended for
some children, particularly those with malnutrition,
malabsorption, Vitamin A deficiency (e.g. developing
* Rash is erythematous, macular, somewhat coalescing,
goes from head to toe and leaves from head to toe
* Immunization helps prevent disease. Immune globulin
can be given within 6 days of measles.
* These children look sick and feel miserable.
* Complications include otitis media (most common),
pneumonia (common cause of death), seizures,

* DDx includes rubella, roseola, scarlet fever,

Kawasaki disease, and drug rashes.

Roseola (Exanthema Subitum, Sixth Disease):

* 15mo infant is brought to the physician because of a
rash. The mother states the child had a rash of 104F
for the past three days without infection. The fever
has resolved since but the child has lesions on the
trunk that are slightly pink over the upper
extremities, face, and neck.
* Rubeola is known as 9-day measles and rubella is
known as 3-day or German measles.
* Key point for roseola is that the fever goes away and
then the rash appears, clinical diagnosis.
* Rubeola: Fever and rash together (B for Both).
Roseola: Fever first then rash after (S for Second).
* Roseola occurs in children usually 6-18 months of
age, caused by HHV-6 or HHV-7.
* Will have very high fever, possibly febrile seizure.
* Rash is rose-colored and there is no fever with the
rash. DDx is other rash diseases.
Rubella (German Measles):
* 5yo child with delayed immunizations presents with
low-grade fever, pinpoint rash, post-occipital and
retro- auricular lymphadenopathy, and rose-spots on the
soft palate.
* Child who gets rubella likely wont have problems,
compared with many complications seen in congenital

* Rubella caused by RNA togavirus virus. Rub my toga.

* Incubation period is 2-3 weeks. Contagious 2 days
prior to rash starting and till 5-7 days after rash
* Key differentiating factor here is the
lymphadenopathy. Posterior occipital and retroauricular LAD.
* Pharyngitis can occur, but generally just rash and
lymph nodes.
* Rash begins on the face and spreads to the body just
like rubeola. Rash is only 3 days (versus 9 days).
* Rose spots can occur on the palate, known as
Forchheimer spots.
* Treatment is supportive, treat the fever and
* Prognosis is good if you have it, but not so good if
you are pregnant.

Rocky Mountain Spotted Fever (RMSF):

* 17yo presents to the ED with his friends because of
a fever, headache, and rose-colored rash that began on
his ankles and is spreading. The patient and his
friends have been camping in Virginia.
* RMSF is a rickettsial disease associated with fever,
headache, rash. Caused by Rickettsia rickettsii.
* Vector is tick carried by rodents and mammals.
* Can have fever, myalgia, nausea, vomiting, headache.

* Rash begins distal and moves proximal to trunk. Will

include the palms and soles. Lesions can be purpuric.
* History of exposure to ticks. These are larger ticks,
not the mini ones seen with Lyme disease.
* Can get convalescent titers, immune fluorescence
antibody assays, can see thrombocytopenia, low WBC
* Treatment is tetracycline or doxycycline.
* This is the exception to the rule for using
tetracycline under 8yo, dont worry about the teeth
* Chloramphenicol is very rarely used, avoid if
* Complications include death, gangrene of the digits,
earlobes, scrotum, nose, or entire limbs because of
vasculitis. Can cause meningoencephalitis.
* DDx includes meningococcemia (with DIC), HenochSchnlein purpura.
* No vaccines exist so avoid ticks.

Varicella (Chicken Pox):

* 5yo child is brought to the ED because he has a
temperature of 102F and is developing a pruritic rash.
The rash appears to be in various stages of papules,
vesicles, and crusts. It began on his trunk and spread
to his extremities.
* Varicella is spread by respiratory secretions.

* Varicella zoster (shingles) is the latent form of

disease, which reactivates and goes across dermatomes.
* Chicken pox infection is via other children or via
someone with zoster.
* Varicella is about 2 weeks in incubation but can
range from 10-21 days.
* Patient may have few symptoms, low-grade fever then
break out in a rash.
* Patient is contagious starting from 1-2 days prior to
rash up until every single lesion is crusted (about a
* Exam will show classic lesions of macula, papule,
vesicle, pustule, crust. They come in waves.
* Sometimes the lesions can be hemorrhagic.
* Treatment is supportive. Can give varicella immune
globulin to high risk patients such as immune
* Most common complication is scaring from scratching
and getting secondary infections, like impetigo from
group A beta-hemolytic strep.
* Adults and neonates get the disease worse. Can have
pneumonias, neurologic sequelae (e.g. Guillain-Barr),
encephalitis, cerebellar ataxia. Adults and neonates
are at higher risk for pneumonitis.
* Patient comes in with gait disturbances, look for
history of recovering from varicella.
* DDx includes vesicular rashes (e.g. herpes, insect
bites, staph). Get vaccinated. -

Scarlet Fever (Scarletina):

* 7yo complains of a headache and sore throat.
Physical exam shows temp of 103F, 3+ tonsils (large)
with exudate, and a strawberry tongue. In addition he
has circum-oral pallor and a sandpaper rash on his
face, trunk and upper extremities. Dark red Pastia
lines on the skin are noted.
* Scarlet Fever is caused by group A beta-hemolytic
* Usually have with a sore throat pharyngitis. Can
follow wounds, burns, streptococcal skin infection.
* Abrupt onset of fever, chills, headache, sore throat.
Can have abdominal pain due to mesenteric
lymphadenitis. Can have vomiting, may look like
appendicitis. Can have a rash in the axilla, groin,
neck, which spreads.
* Strawberry tongue, circum-oral pallor, and
erythematous blanching feels-like-sandpaper rash.
* Tonsils can be large and can peel, like in Kawasaki.
* Quickest test is strep screen. Throat culture is
better test.
* Treatment is penicillin. Erythromycin, clindamycin,
or cephalosporins can be used.
* Complications include bacteremia, sinusitis, otitis
media, osteomyelitis, cervical adenitis.
* Rheumatic fever and glomerulonephritis can occur as
* DDx includes roseola, but Scarlet Fever is rare in
infancy. Seen in 5yo and older.

Mumps (Parotitis):
* 4yo unimmunized child presents with fever and
unilateral parotid swelling.
* Mumps caused by a paramyxovirus. Other virus causes
parotitis, but talking about mumps virus here.
* Spread by airborne droplets and saliva. Seen in the
winter and spring. History of incomplete immunizations.
* Patient contagious 1 day before swelling starts until
3 days after swelling starts. * Incubation period it
about 2-3 weeks.
* Presents with fever, headache, muscle pain, malaise,
all non-specific. Then, they develop the parotitis.
* If you look in the mouth (wearing a glove), you may
be able to milk some stuff from the Stensen duct.
* Pickle test is having patient drink something sour,
which will cause pain due to increased salivation.
* Occasionally there may be orchitis in males.
* Diagnosis is usually clinical. Can see elevated serum
amylase. Can culture virus in urine or CSF. Can do
acute convalescent titers to see antibodies increase.
* Treatment is supportive. Orchitis occurs in pubertal
males, almost always unilateral.
* Complications include meningoencephalitis (most
common), otitis, infertility is rare.
* DDx includes HIV, CMV, coxsackie virus, other
parotitis viral forms, salivary calculus.

Acquired Immune Deficiency Syndrome (AIDS):

* 18mo has failure to thrive (FTT) and developmental
delay. Patient has history of recurrent ear infections,
oral thrush, and chronic diarrhea. On exam today, there
is lymphadenopathy.
* AIDS caused by HIV. Majority of cases are infants
born to mothers with HIV. Adolescents is the second
group of children who get HIV, acquired the same way
that adults get it.
* Congenital transmission has been decreased immensely
by treating mothers with zidovudine (antiretroviral).
* Most children at birth look normal, but over time
will develop FTT and recurrent infections.
* Any child with lymphoid interstitial pneumonia should
be considered to have HIV until proven otherwise.
* Rarely, hepatosplenomegaly and recurrent bacterial
* Diagnosis is with ELISA and Western blot. Most common
is Western blot, best test is PCR.
* Children born to HIV-positive mother can be positive
for up to 18 months before they turn negative.
* DNA polymerase chain reaction is the preferred
testing method for infants in developing countries.
* HIV culture is not recommended for infants less than
1 month due to false positive results.
* HIV disease in children > 18mo can be excluded if 2
antibody tests are negative, no hypogammaglobinemia,
and no clinical evidence of HIV.

* Treatment is the same as in adults. Aggressively

treat secondary infections. Be aggressive with

Mononucleosis (Mono, Kissing Disease):

* 17yo presents with fever, fatigue, and headache. He
also complains of sore throat and left upper quadrant
pain. On physical exam he is noted to have generalized
lymphadenopathy, enlarged tonsils, and
* Epstein-Barr virus (EBV) causes mononucleosis and is
spread by saliva and intimate contact.
* May be asymptomatic as infants. More common in
adolescents, flu-like symptoms for a couple of weeks.
* Physical exam can be pharyngitis (very bad looking).
* Up to 1/3 of patients can have a positive strep
screen. If you treated this with penicillin and they
broke out in a rash, think about mononucleosis. This is
an ampicillin (and amoxicillin) rash and is
precipitated about 99% of the time, virtually
* Helpful test is CBC with atypical lymphocytes (Downey
cells). Mono spot test (heterophile antibody test) is
for screening. With acute infection, heterophile
antibodies are produced. Can also do EBV titers.
* Treatment is supportive care, avoid penicillin drugs
(rash reaction). Avoid contact sports for 2-3 weeks to
allow for the spleen to reduce in size (preventing
* DDx includes group A beta-hemolytic strep infection.

* Can get high WBC count with thrombocytopenia.

Influenza Virus & Adenovirus:

* 14yo is seen by his physician because of fever,
headaches, myalgia, chills, and cough.
* Every year this is a wave of influenza, vaccines
developed based on yearly serotypes.
* Types A and B are responsible for epidemics.
* Older children present like adults with typical
symptoms. Can get flushed face, myalgia, cough, chills
for 2-5 days, nasal congestion and cough for 4-10 days.
Younger children do not get as much influenza, but can
have symptoms of laryngotracheitis or bronchiolitis or
upper respiratory infections.
* Diagnosis from nasal swab or nasopharyngeal washes,
can do immunofluorescence antibodies.
* Treatment is amantadine and rimantadine for serious
cases, usually dont help much. Antivirals have to be
given very early and usually by the time the patient
gets to the doctor it is too late.
* Influenza treatment is generally supportive.
* Worry about secondary bacterial infections. Hard to
differentiate flu from other viral infections.
* With adenovirus, patient presents with fever, sore
throat, and conjunctivitis. Usually seen in the spring
and summer. Incubation period is 2-14 days. Can cause
diarrhea. Look for pharyngitis, rhinitis,

* Can do nasal washes for adenovirus, can do

fluorescence antibodies and cultures.
* Adenovirus treatment is supportive.

Hand-Foot-Mouth Disease (Coxsackie A Virus):

* 2yo presents with a vesicular rash in his mouth and
on his palms and soles. Mother states he has a rash on
his buttocks.
* With hand, foot, and mouth disease there are blisters
on an erythematous base. Lesions can be anywhere.
* Incubation period is 4-6 days, usually in the summer
and fall. Epidemics in 3-year cycles.
* Diagnosis is clinical. Treatment is supportive care.

Pinworm (Enterobiasis):
* A mother brings her 4yo child to the physician with
a history of anal itching. The patient attends daycare
and you are told the childs favorite activity is
playing in the sandbox.
* Enterobiasis is the most common parasitic infection
of children in temperate climates.
* Worms are white and at most 1cm in length.
* Will have nocturnal anal pruritus. Female worms go to
anal region and lay eggs usually at night. Child will
constantly re-infect because the scratch their butts
(stick eggs) and touch their faces, eat with hands,

* Diagnosis is via microscopic examination of worms or

eggs. Can get stool for ova and parasites.
* Can get eggs from a tape test (Scotch tape test). Put
tape on childs anus prior to bed, remove tape in the
morning and examine under the microscope for eggs. May
be able to see worms at night in anal cavity.
* Complications include excoriations from scratching.
* Can get a massive infestation with pinworms in the
* Almost all parasites cause eosinophilia. Enterobiasis
is an exception, no eosinophilia.
* Treatment is for infected/symptomatic individuals but
consider for whole family. May need to repeat the
treatment. Treatment with benzimidazole compounds like
albendazole and mebendazole.

Roundworm (Ascaris Lumbricoides):

* Infant is brought in because the mother found a
worm in the diaper.
* Ascaris is found in warm climates, transmitted from
soil when using human feces as a fertilizer. Fecal
* Larva are ingested and they penetrate the intestinal
wall. They work their way up to the lungs via
circulation. Then they break through lung tissues,
which can cause hemoptysis and Lffler (Loeffler)
syndrome. The worms then crawl up the tracheobronchial
tree, you cough to clear throat, and swallow. Now the
adults are living in your GI tract. They do not attach,
just swim against the peristaltic wave.

* Children can have colicky abdominal pain, bilestained emesis, pulmonary ascariasis (cough, bloodstained sputum, pulmonary eosinophilia).
* Best test is stool studies for ova and parasites. May
see the worm in nose/mouth or in stool.
* Treatment is albendazole, pyrantel pamoate, or
mebendazole. Piperazine better for intestinal

Scabies (Sarcoptes Scabeii):

* Mother brings her 3 children to you because they
have a pruritic rash that has been present for the past
three months. Mother states that she and her husband
have a similar rash that began in the webs of the
fingers. The itching has spread to the wrist, elbows,
and axilla.
* Children get it more than adults. In older children
and adults it does not affect the face. Usually neck
* Hallmark sign is itchiness. Burrow is characteristic
lesion as mite digs under skin, more common in adults
than in children and can be seen in webs of fingers or
* Infants present with rash, may be vesicular like
atopic dermatitis. Unlikely that 3 kids get atopic
dermatitis at the same time, much more likely that they
have scabies.
* Children may not get burrows but get vesicles,
pustules, scabs. May affect face in infants.

* Diagnosis is clinical, but can scrape the skin at a

vesicle and look under a microscope for eggs or mite.
* Treatment is permethrin or lindane cream, cover
entire body and keep on overnight. Do not use lindane
in small children due to neurotoxicity. Children under
6mo can use a sulfur petrolatum mixture. Treat
everybody. Can give antipruritics too, like
* Complications include impetigo or secondary skin
infections due to persistent scratching.

Lice (Pediculosis):
* The school nurse refers a first grade child to you
because of nits in the childs hair.
* Lice are obligate parasites of the human. They affect
body, head, pubic.
* Risk factors include poor hygiene. Pubic lice is
transmitted via sexual contact. Body louse hardly ever
seen in children. Most common is head lice.
* Hallmark sign is itchiness. Exam will show nits
(eggs) and possibly louse. The lice like to stay close
to the scalp, so if a nit is at the end of long hair it
means youve had it for a very long time, likely an
empty egg.
* Treatment is permethrin for body lice, also kills the
nits. Petrolatum (petroleum jelly) for eyelashes.

Hookworm (Necator Americanus, Ancylostoma Duodenale):

* 5yo presents with complaints of anorexia, abdominal

pain, and diarrhea. The patient is noted to have a
yellow- green pallor.
* Hookworm is a helminth and can cause blood loss.
Hookworm attaches (unlike ascaris) and can suck blood,
up to half a mL per day per organism.
* Hookworms found in warm moist soil especially in
rural areas. Wear shoes. They penetrate through the
skin or can be ingested. Eventually attach to the wall
of the intestine.
* Can have itch at penetration site. Can have abdominal
pain or fullness with larger infections, diarrhea.
* Yellow-green pallor is known as chlorosis, green
sickness, this is hypochromic anemia.
* Best test is stool for ova and parasites.
* Treatment is mebendazole or albendazole.

Other Parasites:
* Rectal prolapse seen in Trichuris trichiura
* Cutaneous larva migrans (CLM) seen in Ancylostoma
braziliense, creeping eruption. From dog stool.
Causes intense itching but is self limiting.

Fungal Infections: Topical;

* Newborn is noted to have white plaques on his buccal
mucosa that are difficult to remove.

* Oral thrush is caused by candida. They look like milk

curds, but will not scrape off.
* Candidiasis can affect the diaper area with erythema
and satellite lesions.
* Scraping candida plaques with KOH prep will show
hyphae on microscope.
* Candida occurs in infants because they like a dark,
warm, moist place (mouth, diaper area). Can also occur
in the immunocompromised and in patients taking
* Have patient rinse their mouth and spit or swallow to
help prevent oral thrush.
* Candidiasis can be painful. Diagnosis is clinical but
can do KOH prep.
* Topical nystatin used, swish and swallow. Oral
fluconazole can be used. Topical nystatin for diaper
* School nurse refers a student to you because of an
annular rash with scaling and central clearing. Other
members of the childs family have similar lesions.
This is tinea corporis.
* Tinea corporis affects the skin but excludes the
palms, soles, and groin.
* Tinea cause by Trichophyton rubrum, Trichophyton
tonsurans, Trichophyton interdigitale and/or
Trichophyton mentagrophytes, Microsporum canis, and
Epidermophyton floccosum.
* Usually a rash, not a lot of itching. Annular lesion,
ring shaped, called ring worm but not a worm.

* Diagnosis is clinical, can do KOH prep. Tinea

corporis usually does not fluoresce with Wood lamp,
microsporum will fluoresce on Wood lamp.
* Treatment is topical.
* DDx is pityriasis rosea (herald patch on trunk),
seborrheic dermatitis, psoriasis, granuloma annulare.
* Child is brought to the clinic by his mother because
he has patches of hair loss as well as knots in the
back of the scalp. This is tinea capitus.
* Tinea capitus is more commonly seen in Hispanics and
African Americans.
* Tinea capitus caused by trichophyton and microsporum.
Microsporum fluoresces.
* Usually brought in because of hair loss, alopecia.
May be black dot tinea, black dot hair loss, where the
hair is broken off right at the scalp so it looks like
black dots.
* Kerion is a boggy granulomatous reaction to the
tinea capitus, not a secondary infection, treat with
* Treatment is with oral griseofulvin. Treat ringworm
topically, but if on scalp must treat orally.

Fungal Infections: Systemic;

* 14yo living in the southwest presents with fever,
headache, malaise, chest pain, a rash, and tibial
erythema nodosum.
* San Joaquin Valley fever is caused by Coccidioides
immitis, found in the soil in the southwest (AZ, TX).

* Inhalation is the mode of transmission, incubation is

10-16 days.
* Blood group type B are at higher risk for
* Usually presents with flu-like symptoms, chest pain,
and maculopapular rash. Erythema nodosum can be seen.
* Lung exam is usually clear but CXR is abnormal,
pleural effusions.
* Diagnosis is via sputum examination with culture.
* Primary disease is self-limiting, no need to treat.
Treat with amphotericin B if severe disease. Treat
coccidioides meningitis with fluconazole.
* DDx includes TB. Complications include meningitis.
* 10yo who had been exploring caves (spelunking) with
his friends presents to the physician with flu-like
symptoms. Think histoplasmosis.
* Histoplasmosis can cause acute pulmonary infection,
chronic pulmonary infection, disseminated disease.
* Transmitted from soil with nitrates that is heavily
contaminated with bird or bat droppings.
* Look for a history of being in caves or under/around
bridges (e.g. starling-blackbird roosts).
* Inhalation transmission. Majority have flu-like
symptoms. Chronic disease is opportunistic.
Disseminated disease seen in immunocompromised and
infants (immuno-nave).
* Fever, splenomegaly, thrombocytopenia with systemic

* In non-HIV patients who are immunocompromised you can

see fevers, weight loss, interstitial pulmonary
disease, ulcers, meningitis.
* In HIV positive patients, disseminated disease is
fever, weight loss, skin rashes, lymphadenopathy,
* Acute pulmonary disease will have negative sputum
cultures. Can do skin testing, similar to TB, for
* Radioimmunoassay is the best testing for disseminated
* Treatment if mild is supportive, self-limited. Use
amphotericin B for disseminated disease.

Immunology: Allergic Rhinitis;

* 8yo patient comes to the physician because of a
runny nose, sneezing, and mouth breathing. The mother
states that the patient gets the symptoms every spring
when the lilacs start to bloom. Exam is positive for
allergic shiners, clear
rhinorrhea, and boggy turbinates.
* This is seasonal or allergic rhinitis. Usually
associated with certain periods of the year, but may be
all the year.
* It occurs after exposure and sensitization to
pollens. Can be perennial (spring, summer, then fall).
* 5-9% of children will develop seasonal rhinitis, rare
before the age of 5yo.

* Occurs after inhalation of spores, plant pollens,

mite allergens, bug shells, deposited on nasal mucosa.
* IgE mediated, causes mast cells to release histamines
and other inflammatory mediators.
* Patients can have sneezing, watery rhinorrhea, nasal
obstruction, nose/eye/palate/ear pruritus, snoring.
* Exam will show swollen nasal passages (tend to be
pale, bluish).
* Allergic salute is when kid rubs their nose upward,
flattening it to clear snot, can cause a nasal crease.
* Allergic shiners are darkening around the eyes due to
venous stasis.
* Diagnosis is clinical, order a nasal smear if needed.
Smear will be loaded with eosinophils.
* Avoid triggering factors. Antihistamines and
decongestants are very helpful.
* Cromolyn is used to stabilize mast cells, take before
season starts.
* Topical corticosteroids are helpful for allergic
seasonal rhinitis. Secondary infections treated with
* DDx for snoring includes tonsillar hypertrophy. DDx
nasal polyps, foreign bodies (unilateral discharge),
rhinitis medicamentosa (vasoconstrictors, tachyphylaxis
with rebound edema), unilateral atresia.

Immunology: Urticaria & Angioedema;

* 5yo boy presents to the ED because he was stung by

a bee and has developed a wheel-like raised rash over
his body. He develops respiratory distress, dizziness,
and emesis. Exam shows stable vital signs and no tongue
swelling or wheezing. He has well circumscribed raised
lesions of various sizes on his trunk and upper
extremities that are pruritic.
* Urticaria (hives) will be raised and erythematous,
blanches, can coalesce (run into each other).
* Always feel a rash on the patient.
* Angioedema (angioneurotic edema) is difficult to
distinguish from urticaria but tends to affect deeper
layers of the skin. Can also involve other tissues
including the respiratory tract.
* Hereditary angioedema suspected with recurrent
episodes of non-pitting edema. Can involve the GI
tract, respiratory tract (wheezing, respiratory
problems, possibly intubation needed).
* Hereditary angioedema cause by a C1-esterase
inhibitor deficiency.
* Urticaria more commonly seen in girl than boys, IgE
mediate with release of histamine. Can have C3a and C5a
pathways. Another pathway is via bradykinin release.
* Causes include foods (chocolate, peanuts,
strawberries, etc.), medications, viruses, bacteria
* Trouble when you prescribe an antibiotic and are not
sure if it is viral. If patient gets a rash, is it due
to the antibiotic or due to the virus?

* Treatment is self-limited, supportive includes

antihistamines for the itch.
* Severe urticaria especially if airway compromise may
require epinephrine.
* May last up to 6 weeks. If lasting past 6 weeks then
it is chronic urticaria.
* DDx includes erythema multiforme, urticaria
pigmentosa (more systemic signs), exercise-induced
anaphylaxis (hypotension, urticaria, angioedema,
wheezing), urticarial vasculitis (do not respond to
antihistamines well).

Immunology: Atopic Dermatitis:

* Mother brings her 5yo daughter to the physicians
office because her daughter has developed a rash in the
antecubital area. The rash is pruritic. On exam, an
erythematous rash with excoriations is noted in the
flexor area.
* Atopic dermatitis (eczema) is an inflammatory
allergic reaction with erythema, edema, itching,
exudates, crusting, scaling. Usually a family history
of asthma, seasonal allergic rhinitis, or actual atopic
* In infancy, presents on the face with weeping
lesions. Can get crusty, scaling, extremely itches.
* Can be on the cheeks, neck, wrists, hands, and
extensor aspects of the extremities.
* Many times it coincides with the introduction of
foods. Introduce 1 new food per week.

* Older children get rash on flexor surfaces

(antecubital areas). * Eosinophilia on CBC is helpful.
Mnemonic is NAACP: neoplasm, allergy, asthma, Addison
disease, collagen vascular disease, parasites.
* Atopic pleats can be seen under the lower eyelid.
Also called infraorbital fold, Dennie lines, Morgan
* Treatment is bathing less often to prevent washing
off natural skin oils. Use mild soaps, oils. Avoid
environmental causes of itching. Increase humidity in
winter. Avoid rough-texture clothing (e.g. wool). Use
antihistamines and treat secondary skin infections.
Topical corticosteroids can be used.
* Complications include secondary skin infections from
scratching, staph aureus or group A beta-hemolytic
* DDx includes scabies, allergic contact dermatitis
(e.g. on toe from glues used in shoes, poison ivy,
poison sumac, poison oak).

Immunology: Deficiencies; Overview;

* With immune deficiencies, there is a history of
recurrent infections. May not present right at birth
because the mothers immune globulins are circulating.
* History of recurrent sinus infections, failure to
thrive, recurrent pulmonary infections, recurrent
bacterial sepsis.
* The best test for suspected immune deficiencies is
serum immunoglobulins.

* Patients could have skin lesions, autoimmune disease,

* Order CBC with manual differential, sed rate (not
specific), immunoglobulin levels. Can get antibody
titers and IgG subclasses. So if you suspect B-cell
deficiencies then order immunoglobulin levels. For Tcell deficiencies, order absolute lymphocyte counts and
skin testing for delayed hypersensitivity. For
phagocyte deficiency order absolute neutrophil count
(CBC) and neutrophil respiratory burst testing.
Complement deficiencies order CH50.
* 15mo child presents to the physician with fever of
39C. Exam reveals right tympanic membrane that is
erythematous and bulging, has obscured landmarks and no
mobility. This is otitis media. On review of medical
records, you note that since 9mo this child has had
multiple infections with otitis media, sinusitis, and

Immunology: Agammaglobulinemias;
* Bruton disease (X-linked congenital
agammaglobulinemia, panhypogammaglobulinemia) is due to
defects in the B-lymphocytes. This is X-linked (q22
chromosome) and involves all three classes of
* Most boys with Bruton will present after maternal
antibodies fall at about age 6-12 months.
* Patients will get repeated infections. Exam may show
hypoplasia of tonsils and adenoids, no LAD, no HSM.
* Carriers are detected by direct mutation analysis.
Prenatal detection is done by mutation analysis.

* With suspected Bruton, draw serum immunoglobulins

from patient. All three classes will be decreased.
* Treatment is antibiotics for infections and
immunoglobulin therapy (IgG injection once a month).
* Paralysis after polio vaccination has occurred but is
not likely anymore with killed vaccination.
* Bruton patients at risk for mycoplasma, hepatitis,
enteroviruses are difficult to handle.
* 3yo is brought to your office because of recurrent
URIs and UTIs as well as chronic diarrhea. IgA
* You suspect immune deficiency here so you order all
* IgA deficiency is the most common humeral antibody
deficiency. Unknown transmission, autosomal dominant?
* Patients susceptible to recurrent respiratory
infections and can have chronic diarrhea.
* Patients with IgA deficiency need blood screening. If
they need blood transfusion, the blood bank must know
about the IgA deficiency because there can be an
incompatibility reaction.
* High association with lupus, arthritis, increased
cancer risk. Be careful with blood products because
they develop anti-IgA antibodies, can have anaphylactic
* 2yo presents to your office with greater than 7
sinopulmonary infections in the past year. The patient
does not have siblings and does not attend daycare. No
one is ill in the household. The patient does not have

any pets or animal exposure, no recent travel, no FTT,

is at 50% for height and weight at age.
* Four subclasses of IgG. When one or more is low the
you get IgG subclass deficiency. Order immunoglobulin
* Most patients with IgG-2 deficiency will also have
IgA deficiency.
* Diagnosis is via IgG subclasses. Gamma replacement
therapy is indicated.

Immunology: DiGeorge Syndrome:

* 3week old infant presents with a generalized
seizure. The patient was born to a 22yo G1P1 Caucasian
at full term with spontaneous vaginal delivery. The
mother had good prenatal care and denies tobacco or
drug use. There were no complications at delivery.
Patient weighed 7lbs 6oz at birth and had gained
weight. The patient has been feeding and sleeping well.
Exam shows hypertelorism (eyes wide spaced), low set
ears, micrognathia, and fish-mouth. This is DiGeorge
* DiGeorge syndrome associated with conotruncal defects
of the heart. T-cell defect. Thymic hypoplasia from
injury to cephalic crest cells, which contribute to the
3rd and 4th pharyngeal pouches.
* Hypoplasia of thymus and parathyroid glands.
* Other structure that form at the same time can be
affected, heart disease, hypertelorism, esophageal
atresia, bifid uvula, micrognathia. May look like fetal
alcohol syndrome.

* First manifestation may be hypocalcemia or seizure

due to hypocalcemia from parathyroid hypoplasia.
* DiGeorge occurs in both boys and girls, on chromosome
* Some children will have partial DiGeorge
syndrome/sequence and not have problems. Complete
DiGeorge has many complications, including graft versus
host disease from non-irradiated blood transfusion.
* Exam can show epicanthal folds, wide-spaced eyes,
low-set ears, short philtrum, ASD, VSD, truncus
* Genotyping with PCR can be done to get diagnosis.
Normally diagnosis is clinical. * Treatment is thymic
tissue transplants, bone marrow transplants.

Immunology: B & T-Cell Deficiency:

* 1yo infants presents to the physician with severe
eczema. Exam shows draining ears and petechial rash.
Review of record reveals recurrent infections including
otitis media and pneumonia.
* Wiskott-Aldrich syndrome is a B-cell and T-cell
defect. X-linked recessive.
* Recurrent infections, thrombocytopenia, eczema. Maybe
* Wiskott-Aldrich mnemonic MR TEXT: IgM decreased,
Recurrent infections, T-cell and B-cell, Eczema, Xlinked recessive, Thrombocytopenia.
* IgA and IgE will be high, IgG will be normal or low,
IgM will be low.

* Splenectomy is treatment, can take care of

thrombocytopenia. Higher risk of infection though
especially with encapsulated bacteria like
pneumococcus. Need antibiotic prophylaxis.
* Wiskott-Aldrich syndrome definitive treatment is bone
marrow transplant.
* Complications include bleeding due to
thrombocytopenia, higher risk of malignancy.

Immunology: Ataxia Telangiectasia:

* 3yo presents with ataxia, mask-like facies,
drooling, tics, and irregular eye movements. According
to the mother, the ataxia began at about 1st year of
life. Exam shows eyes with telangiectasia. History
involves recurrent respiratory infections.
* Ataxia telangiectasia can involve telangiectases of
the eyes/skin, chronic pneumonias, endocrine
* Humoral and cellular immunodeficiencies.
* Ataxia telangiectasia is autosomal recessive and on
chromosome 11.
* What are the odds of having another affected child?
Answer is 1 in 4.
* First neurologic sign is ataxia, starts after the
child begins walking.
* Testing includes immunoglobulins levels, showing IgA
deficiency, low IgE and IgM. CD3 and CD4 counts
moderately lowered, CD8 count moderately high.

* Children usually end up in wheelchairs by the age of

12. High risk for varicella.

Development of the Eye:

* Babies are born with large eyes, 65-75% of adult
size at birth. When babies are first born, their eyes
go all over, cross, etc. It takes 3-4 months for them
to fix and give binocular fixation. You can get
strabismus before but do not worry much. * Normal
eyesight is not present at birth. At birth, normally
20/200 to 20/300 can only see about 12-19 inches
clearly, about the distance from the moms face to the
babys face when nursing .
By age 5-6, eyesight is 20/20. Newborns sees black and
white better than color and see patterns better. Black
and white cutout checkerboard or target patterns in the
newborn nursery helps stimulate the baby sitting in the
crib. Color blindness is usually red-green and X-linked
recessive disease (from mother).
* Coloboma is a defect of the eyelid but can do deeper
layers into the eye (iris, lens, retina, choroid).
Opening in the lid can lead to ulceration and scarring
due to scaring. * Coloboma may be isolated but
associated with chromosomal disorders and malformation
* Epicanthal folds may be very prominent in infants,
giving pseudo-strabismus due to wide nasal bridge.
* Ptosis (upper eyelid drooping) is the most common
anomaly of the eyelid, usually isolated, usually no
treatment. Can be associated with botulism and
myasthenia gravis. Can be surgically corrected.

* Infections of the lid include blepharitis

(inflammation of lid margins, associated with pain,
itching, burning, eyelid redness), hordeolum (stye,
staph infection of ciliary follicles/glands along the
lid margin, treat with warm compresses and topical
antibiotics), chalazion (granulomatous inflammatory
response, below lid margin, retention of secretions of
meibomian glands, scrape out via incision looks like
tapioca pudding).
* 12-hour-old newborn is noted to have bilateral
conjunctival injection, tearing, and left eyelid
swelling. Exam is otherwise normal.
* Conjunctivitis is inflammation of conjunctival
vessels. If newborn less than 24h old, think chemical
from something like silver nitrate drops (used prior to
* Gonococcal ophthalmia can be prevented with
erythromycin drops. Purulent bilateral conjunctivitis,
about 5d of age or later if failed topical antibiotics.
Bacterial conjunctivitis not seen in the first 24h of
* Chlamydia is the most common cause of conjunctivitis,
5-23d after birth.
* Purulent conjunctivitis is usually bacterial, seen in
older children. Viruses can cause conjunctivitis
(pertussis, measles, Kawasaki). Allergies can cause
* Conjunctivitis exam will show tearing, conjunctival
erythema, lid redness, discharge.
* Pain with photophobia, stop thinking about
conjunctivitis and think about corneal problems.

* Gram stain discharge (quick answer) and culture (day

or two wait).
* Treatment for gonococcal conjunctivitis is
ceftriaxone. Prevention with silver nitrate or
erythromycin topical.
* Treatment of chlamydial conjunctivitis is with
erythromycin topically and systemically to prevent
* Older children with acute purulent conjunctivitis use
topical antibiotic drops. *Allergic conjunctivitis
with decongestant drops or mast cell stabilizers or
antihistamine drops, cool compress.
* Ophthalmia neonatorum can cause corneal problems.
Most other conjunctivitis does not have complications.
* DDx dacryostenosis which is nasal lacrimal duct
obstruction, usually unilateral, newborn or infant,
treated with gentle massage about 3-4x/day.
* Subconjunctival hemorrhage from birth trauma or
forceful vomiting or coughing. Bright red patch seen in
the conjunctiva. Can occur with mild trauma, coughing,
sneezing, conjunctivitis. Resolves on its own.
* For strabismus and amblyopia, do cover test and
Hirschberg test, where you shine light and see where it
bounces off the eyes. It should bounce off the center
of the pupil in both eyes. Then do cover test, cover
the eye that is straight ahead. If there is amblyopia,
the lazy eye will go straight ahead.
* Strabismus is a misalignment of the eyes (divergent,
convergent). Results from abnormal innervation of the
muscles from the supranuclear nerve. Can have transient
or pseudo-strabismus up to 4mo.

* Extraocular movements normal in strabismus.

* Treatment for strabismus is glasses and possibly
surgery to correct the muscle, shorten/trim muscle.
* 5yo boy is seen in the office because his left eye
turns in. Exam reveals turning in of the left eye.
Extraocular movements are intact. Covering the right
eye cause the left eye to straighten out. Visual acuity
is affected in the left eye, needs glasses. Patching
the good eye helps, but do not patch for too long,
refer to ophthalmologist.
* Amblyopia is a decrease in visual acuity as a result
of an unclear image falling on the retina. It can be
caused by strabismus or by an opacity in the visual
axis (deprivation).
* Treatment is remove opacity if it exists. If no
opacity, patch the good eye.
* 7yo boy presents with swelling around the eye two
days after suffering an insect bite to the eyelid.
There is edema, erythema, and proptosis of the eye.
Marked limitation of eye movements are noted. He has a
low grade fever. This is orbital cellulitis (versus
periorbital cellulitis).
* Key for orbital cellulitis is proptosis and limited
eye movements.
* Periorbital cellulitis is an inflammatory condition
involving the tissues of the orbit. It most commonly
arises from sinusitis. Organisms are H. influenzae type
B, staph, group A beta hemolytic strep, strep
pneumonia, anaerobes.
* Periorbital cellulitis can occur after direct
infection from a wound (e.g. trauma, bug bite).

* Patients with orbital cellulitis will complain of

orbital pain, decreased vision, proptosis (eye pushed
forward), conjunctival edema, and eyelid swelling.
* Stage I orbital cellulitis is swelling of the eyelid
still confined to the sinus.
* Stage II is sub-periosteal abscess.
* Stage III is true orbital cellulitis with limitation
of eye movement.
* Stage IV is an orbital abscess.
* Orbital and periorbital cellulitis both diagnosed
clinically. Can get CT scan if needed.
* Treatment is antibiotics. Orbital cellulitis may need
to be drained.
* Complications include loss of vision.
* Periorbital cellulitis with violaceous color is more
specific for H. influenza type B.
* Retinoblastoma is diagnosed with white reflex,
* Eyelid ecchymosis (black eye) occurs after trauma and
resorbs spontaneously (goes away).
* Foreign bodies to the eye produce discomfort,
tearing, irritation. Foreign body under the eyelid can
mimic a corneal foreign body. Pull down eyelids, evert
* Intraocular foreign body would be someone hammering
a nail then feels something go into their eye. In this
case, call the ophthalmologist.

* Pain and photophobia in the eye, corneal abrasion. Do

a fluorescein stain, look under a cobalt blue lamp.
Treatment is topical antibiotics, tape, and leave alone
for about 24h, check next day. If not getting any
better, call the ophthalmologist. Know what youre
dealing with before starting steroid drops in the eye.
If viral infection and you start steroids, you may be
hurting them more than helping them.

Development of the Teeth:

* 7mo infant is very fussy, drooling, and grabs at
her left ear. Exam reveals normal tympanic membranes,
mild swelling of the gingiva.
* Ear infections do not really cause fever, rashes,
diarrhea, these are folk-tales.
* Teething starts about 6-8mo of age, as teeth erupt.
Signs and symptoms are local discomfort, bluish
discoloration of the gums (hematoma or eruption cysts),
drooling, fussy.
* No substantial evidence relating teething to
diarrhea, rashes, rhinorrhea, fever.
* Treatment consists of teething rings and cool
compresses, nothing frozen because they can stick.
* Incisors erupt about 6-9 months. 1st molars at 10-15
months. Canines and 2nd molars at 16-27 months. Some
children are born with a tooth. Some a year old with
only one tooth.
* First teeth to erupt are the lower central incisors,
then upper central incisors, then upper lateral

incisors, then lower lateral incisors. By age 1yo, 6-8

teeth. By 2yo, 12-16 teeth. By 3yo all teeth.
* Milk bottle (nursing) caries caused by diet,
particularly sticky carbohydrates. Bacteria can cause
cavities, particularly strep mutans.
Repetitive/continued exposure can cause caries. Dont
let baby go to bed with a bottle. Lesions are usually
easy to see, may complain of pain because of tooth
decay. Fluoride started at 6mo if breast fed, use
fluoride water with any formula mix. Brush teeth as
soon as they erupt. Best first dental checkup is age 3.
* Tetracycline can cause yellow discoloration of the
teeth, enamel hypoplasia.
* Gingival hyperplasia caused by phenytoin, reversible.
Need good oral hygiene.
* Cleft lip is a cosmetic problem. Cleft palate affects
speech, aspiration, and ear infections. Surgical repair
necessary at 10 weeks and 10lbs.
* Geographic tongue is common, normal variant,
sometimes normal with viral infections.
* No such thing as a hairy tongue. Black hairy tongue
is elongated papilla.

Development of the Ears:

* Otitis media is related to 30million visits/year to
the doctor. Expenditures > $2billion/year in 2000.
Ventilation tubes (T-tubes, PE-tubes) most common minor
surgical procedure. Tonsillectomy/adenoidectomy most
common major surgical procedure.

* 4yo seen in the office with three day history of

fever and cold symptoms. He now complains of right ear
pain. Exam shows a bulging tympanic membrane with loss
of light reflex and landmarks.
* Risk factors for otitis media include being younger
than 6yo, males, daycare, second-hand smoke, formula
feeding (breast is best, less infections, higher IQ),
craniofacial anatomy.
* Caused by allergy, immunologic deficiency, ciliary
dyskinesia, eustachian tube dysfunction, viruses (RSV,
parainfluenza, adenovirus), bacteria (S. pneumonia,
nontypable H. influenzae, M. catarrhalis).
* Most common bacterial cause is S. pneumonia. Many H.
influenzae are beta-lactamase producers. M. catarrhalis
are all beta-lactamase producers. S. pyogenes type A
also commonly beta-lactamase positive.
* Child eustachian tube is more horizontal. With more
colds, pressure differences can force pathogens into
the ear.
* Acute otitis media (AOM) symptoms include earache
(otalgia, most common complaint) or ear pain, ear
drainage, fever, diarrhea, irritability, anorexia.
* Diagnosis by looking at tympanic membrane, pneumatic
otoscopy (blow ear into canal to see membrane movement)
best test, good for chronic serous otitis media too.
* Treatment is antibiotics, amoxicillin preferred. If
resistance, amoxicillin/clavulanic acid (covers betalactamase producers) plus amoxicillin, third-gen
* Fever or earache after 72h of treatment, think betalactamase producers and change antibiotics.

* Complications include persistent middle ear effusion

(no treatment), recurrent otitis media (myringostomy
tubes), hearing loss (most common complication), ear
drum perforation, mastoiditis, cholesteatoma (squamous
epithelial cells caught in tympanic membrane, can
spread and destroy temporal bone structures),
meningitis (most common intracranial complication),
labyrinthitis (vertigo, nystagmus, tinnitus, hearing
loss, vomiting).
* Treat to avoid hearing loss, impaired speech/language
development, cognition, school performance.
* Otitis externa (swimmer ear) differentiated from AOM
by exam. Otitis externa usually caused by repeated
wetting of the ear canal or repeated trauma to the ear
canal. Pain with external ear manipulation, pulling on
* Exam may show red canal with macerations. Otitis
externa and AOM both cause ear ache.
* Causes of otitis externa include pseudomonas and
staph aureus.
* Treatment with antibiotic drops. Tell not to put
anything into ears. Rule of thumb is not to put
anything in your ear that is smaller than your elbow.
Do not use ear swabs, this packs wax in or causes
otitis externa from trauma.
* Best way to remove a live insect foreign body from
the ear is with viscous lidocaine. The lidocaine
irritates the bug and it works its way out. If you use
mineral oil or something else, youll end up having to
dig out the dead bug. * If foreign body is a dry
vegetable (corn, bean) do not flush it out because if
it does not come out it will swell.

Development of the Nose:

* A newborn is noted to be cyanotic in the well-born
nursery. On stimulation he cries and becomes pink
again. The nurse has difficulty passing a catheter
through the nose. This is choanal atresia.
* Choanal atresia is
pharynx. Presents at
nose breathers. When
breath through their

a septum between the nose and

birth because babies are obligate
they get stimulated they cry and

* Choanal atresia key is blue baby that pinks up with

* Associated with CHARGE syndrome: Coloboma, Heart
disease, choanal Atresia, Retarded growth/development,
Genital anomalies (e.g. hypogonadism), Ear anomalies
(e.g. deftness).
* Diagnostic test is inability to pass catheter through
nose. Fiber-optic rhinoscopy can be done to see the
* Treatment is ABC (establish airway), surgical
* Common colds usually caused by rhinoviruses.
* Children are the major reservoirs for the common
cold. Residents and medical students will catch these
illnesses because they havent been exposed to these
germs in a long time.
* Incubation period for common cold is 2-5 days, large
droplet or small aerosol transmission (coughing,
sneezing) and gets on hands, especially in kids who get
snot all over and dont wash their hands.

* Symptoms are fever, nasal congestion, rhinorrhea,

sneezing, pharyngitis, malaise may be present.
* Treating with antihistamines does not help. It will
last a week without treatment and 7 days with treatment
* Decongestants may help. Vitamin C, Zinc, Echinacea,
all not proven to help.
* Sinusitis is caused by strep pneumonia, moraxella,
nontypable h. influenza, sometimes staph or anaerobes.
* Look for purulent nasal drainage and coughing with
* If child has had a cold for more than 10 days, think
sinusitis. If child has been improving with a cold then
spikes a fever, think sinusitis. If drainage become
purulent after 7-10 days, think sinusitis.
* Older children and adolescents will complain of
headaches, tenderness to palpation of frontal or
maxillary sinuses. Little children will not because
they do not have developed sinuses.
* Diagnosis is clinical. Can get x-rays in older
children who have developed sinuses, seeing air-fluid
* CT scan would be diagnostic, but much more expensive.
* If you suspect sinusitis, have to order a test, and
child is old enough (like > 6yo), you can order sinus
x-ray films.
* Treatment is antibiotics for 14-21 days. May need to
treat for 21 days if antibiotics cannot fully

* Complications include orbital cellulitis, abscesses,

* Majority of nose bleeds occur due to nose trauma or
picking nose.
* 8yo has repeated episodes of nosebleeds. Past
history, family history, physical exam are
unremarkable. Most common cause is picking your nose.
Other causes include allergic rhinitis or recurrent
URIs (inflammation).
* Rarely nosebleeds are caused by vascular anomalies or
coagulation problems.
* Epistaxis is rare outside of childhood, seen again in
* Angiofibroma should be considered in pubertal boys
with profuse bleeding and associated nasal mass.
* Foreign bodies can cause nosebleeds, but usually you
see purulent unilateral nasal discharge.
* 3yo seen in the office due to foul-smelling
unilateral purulent nasal discharge. Strep screen in
the ED is negative the night before. You walk into the
room and it smells foul. Exam shows normal ears and
throat. Exam of the nose shows a piece of foam.
* Nosebleeds usually occur without any warning, are
usually unilateral, and can recur soon after.
* Most nosebleeds will resolve spontaneously.
* Treatment is nasal compression with leaning forward
(do not lean backwards).
* Local vasoconstrictor spray can be used (e.g.
epinephrine). Nasal packing can be sued for severe

bleeds. Nasal packs are usually left in for a day or

two. Clean out the nose (blowing) prior to placing
nasal packs.

Development of the Throat:

* 8yo girl complains by acute sore throat of 2 days
duration accompanied by fever and mild abdominal pain.
Physical exam reveals large erythematous tonsils with
exudate and large slightly tender lymph nodes. This is
pharyngitis. Is this strep throat? You dont know yet.
* Pharyngitis caused by viral infections in 50-55% of
cases. Most causes of viral pharyngitis follow colds
and flu due to viruses. Most viral cases are selflimiting and resolve without treatment.
* Most common pathogen in bacterial pharyngitis is S.
pyogenes (25%). Probable co-pathogens are H. influenza
(18%), M. catarrhalis (16%), and S. aureus (2%).
* Pharyngitis caused by S. pyogenes particularly
affects children between ages 5 and 10 years.
* Most common causes of pharyngitis are viruses or
group A beta hemolytic strep. You cannot tell the
difference by looking in the throat.
* Gold standard test is throat culture. A negative
rapid test needs to be backed up with a culture.
* Pharyngitis is rare under 1yo, usually acute. More
common in 5-15 years of age. Under 5yo, think viruses.
* Both viral and bacterial have erythema, exudates,
petechia, enlarged tonsils, cervical adenopathy.

* Viral pharyngitis is usually gradual onset preceded

by cold symptoms. If vesicles or ulcers in the mouth,
you can be more confident in saying it is viral.
Conjunctivitis associated with adenovirus.
* Group A strep may have more headache, more abdominal
pain, usually no URI symptoms.
* Palatal petechia seen in both but more suggestive in
* Exam shows swollen red tonsils, red swollen uvula,
palatal petechia. Strep of virus? Answer is you dont
* Kissing tonsils (Grade IV, 4+ tonsils) when tonsils
are so large they touch. Strep or virus? You dont
* Circum-oral pallor, erythematous fine blanching
sandpaper rash with strep pharyngitis usually.
* White strawberry tongue seen with Scarlet fever.
Probably strep.
* Complications include peritonsillar abscess,
bacteremia, acute rheumatic fever, glomerulonephritis.
* Treatment of viral pharyngitis is supportive, treat
the symptoms, throat lozenges, salt water gargles,
* Treatment of strep pharyngitis is penicillin. If
allergic, erythromycin or cephalosporins.
* Retropharyngeal abscess may have drooling, airway
obstruction, respiratory distress. Treatment is ABCs,
antibiotics, drainage.

* Peritonsillar abscess may have enlarged tonsil

pushing uvula away, hot potato voice sounding like
they have something too hot in their mouth. Treatment
is ABCs, antibiotics, drainage (even a teaspoon worth
of fluid).
* In general, with cervical lymphadenopathy in children
think about infections. TB, atypical mycoplasma, group
A beta hemolytic strep, viruses, infected branchial
cleft cyst. After all that, then think about neoplasms.
* DDx includes branchial cleft cyst, cystic hygroma,
thyroglossal duct cyst.
* Indications for tonsillectomy include persistent oral
obstruction, recurrent peritonsillar abscesses,
recurrent cervical adenitis, suspected tonsillar tumor.
* Indications for adenoidectomy include persistent
nasal obstruction and mouth bleeding, snoring and
snorting, nasal speech, repeated or chronic otitis
* Indications for tonsillectomy and adenoidectomy (T &
A) include cor pulmonale from persistent hypoxia, sleep
apnea, recurrent aspiration pneumonias.
* Invalid reasons for T & A include many colds,
recurrent strep less than 7 infections a year for one
year, less than 5 infections per year for two years,
less than 3 infections per year for three years,
parents want tonsils/adenoids out.

Foreign Body Aspiration & Ingestion;

* Toddler presents to the ED after choking on some

coins. Childs mother believes the child swallowed a
quarter. Exam shows drooling and moderate respiratory
distress. There are decreased breath sounds on the
right with intercostal contractions. This is foreign
body aspiration.
* Best method to diagnose foreign body aspiration is
* Right main-stem is most common location of foreign
* Most commonly aspirated foreign body is a peanut.
Most commonly ingested foreign body is a coin.
* Aspirated foreign body is a sudden event, usually a
witness event. Children < 4yo are at higher risk due to
smaller trachea and curiosity (putting things in their
* Should avoid giving children peanuts until 5yo. Avoid
grapes, small hard candies, etc.
* Exam may show respiratory problems, wheezing,
decreased unilateral breath sounds. Stridor if in
* Larynx most common site of foreign body if < 1yo,
trachea and bronchi are most common if > 1yo.
* Non-obstructing foreign bodies are relatively rare.
* Inspiratory and expiratory films are helpful if the
child can cooperate. You will look for signs of
hyperinflation on the side of the obstruction since air
cannot get out.
* Place child on the side you suspect has the foreign
body (usually right) and do inspiratory and expiatory

decubitus films. When youre laying down and you breath

out, the mediastinum should shift down a little. But,
if there is a foreign body you will not get the shift
because air (foreign body obstruction) is holding up
the mediastinum.
* You see an object in the center of an AP film. How
can you determine if it is in the esophagus or trachea?
Should you do a lateral film? No. Test is en fos. If
aspirated it will be turned, if swallowed it will be on
face on AP film.
* Tracheal rings are cartilage on three sides, so
easier for object to accommodate itself with an edge
facing the back part (soft part), on edge via AP film.
Esophagus is soft all the way around and fits in better
on face via AP film.
* Why is the tracheal rings C-shaped, with a soft back?
Because every time you swallow a food bolus it would be
slamming into the trachea if the trachea were hard all
the way around. This way it gives a little bit.
* Treatment is remove foreign body. Complications
include aspiration pneumonia.
* Avoid peanuts, hot dogs, popcorn, other small foods
that can get stuck.

Croup (Laryngotracheobronchitis);
* 12mo child is brought to your office because of a
barky cough. Mother states that for the past three days
the child has developed a runny nose, fever, and cough.
The symptoms are getting worse and the child seems to

have difficulty breathing when he coughs. The child

sounds like a seal when he coughs.
* Croup has a barky cough and possibly some inspiratory
* Laryngotracheobronchitis is caused by viruses, most
commonly parainfluenza virus. RSV is second.
* History may include other family members having
* Age range is 3-4mo up to about 5-6years of age.
Typically 6mo to 2yo.
* Presents as child with cold for few days then
develops cough with stridor. Or, child wakes up
suddenly with barky cough and stridor (spasmodic croup,
seen in allergic children).
* Exam may show fever, barking cough, stridor,
tracheal tugging, nasal flaring.
* Most patients will exhibit the symptoms of stridor
and slight dyspnea before they get better. Hypoxia is
* Best first test to order is a neck film (AP, PA) to
distinguish epiglottitis from croup.
* Croup has a steeple sign or pencil sign. Looks like a
church steeple with narrowing of trachea superiorly.
* Treatment of croup is home management, humidity, keep
child calm, cool air.
* Racemic epinephrine treatment aerosolized can help
due to vasoconstrictor effects. Worry about rebound

* IM corticosteroids have been shown to help with

* Croup is self limiting. Antibiotics will not help.
* Complications include middle ear and lung infections
from virus, bacterial tracheitis (staph aureus).
* DDx include diphtheria (serous discharge, gray/white
pharyngeal membrane), epiglottitis.

* 2yo child presents to the ED with her parents
because of high fever and difficulty swallowing.
Parents state the child was healthy but awoke with a
fever of 104F, hoarse voice, and difficulty swallowing.
On exam, patient is sitting in tripod position (trying
to straighten the airway for easier breathing),
drooling, expiratory stridor, nasal flaring, and
retractions of the suprasternal notch, supraclavicular
and intercostal spaces.
* Epiglottitis is inflammation of the epiglottis,
causes airway obstruction, is an airway emergency.
* Children with epiglottitis look sicker than croup
children. Epiglottitis usually seen in older kids.
* Epiglottitis has less stridor, less barky cough, more
drooling, more air hunger, higher fever than croup.
* Epiglottitis most commonly caused by H. influenzae
type B, incidence greatly decreased due to
* Usually nobody else ill in the household.

* Look for sudden onset of high fever, dysphagia,

drooling, muffled voice, and tripod positioning.
* Exam shows respiratory distress, air hunger.
* This is an emergency. Do not send this child off to
x-ray with a technician or the parents. Do not struggle
with this patient to lay them down and look at their
throat, because their airway can close while you are
examining it.
* When looking at a lateral film of the neck, the soft
tissue structure should never be wider than the
vertebral body.
* To find epiglottis on lateral film, find the hyoid
bone and look straight back. Thumbprint sign is when
the inflamed epiglottis is so thick it looks like a
thumbprint. Exam shows a cherry-red epiglottis.
* Management, next best step, is secure an airway. Once
the airway is secure, you are safe. Now you can give
antibiotics and treat the patient.
* Diagnosis is made on clinical and physical findings,
as well as visualization of the enlarged epiglottis as
you are intubating the patient (done by experts in
endotracheal intubation and tracheostomy). Airway is
usually obtained in the operating room under controlled
conditions if possible.
* Treatment for antibiotics is third generation
cephalosporins. Keep the patient intubated for a couple
of days, about 48-72h after starting antibiotics.
* A tongue blade should never be used to examine the
pharynx of a patient with epiglottitis. They will get
laryngospasm and the airway will close and they can

die. * DDx include croups, abscess, foreign body.

Complications include death.

* 6yo boy presents to his physician with endexpiratory wheezing scattered throughout the lung
fields. He is noted to have nasal flaring, tachypnea,
and intercostal retractions. These symptoms are
triggered by changes in the weather. There is a family
history of asthma and atopic dermatitis. He has never
been intubated or admitted to the pediatric ICU. His
last hospitalization for asthma was 6mo ago, he takes
medicine only when he starts to wheeze.
* Asthma is a reversible obstructive airway disease.
Symptoms come and go. It affects both small and large
* If you think of your airways as a pipe organ cause
there are different sizes, you get different pitches of
* Three components of asthma are bronchospasm (muscles
constrict), mucus production, airway edema.
* Obstruction caused during asthma attack increases
airway resistance and decreases FEV1 and flow rates.
* Lungs will be hyperinflated and premature airway
closure (air trapping).
* Take a deep breath and let half out, then take
another deep breath and let half out, continuing this
will not last long in a healthy person (try it for

yourself). Thats what an asthmatic feels like due to

air trapping.
* Etiology is unknown, does run in families, can be
related to the environment, lots of different factors
involved such as endocrine, immunologic, infectious.
* Presentation varies for asthma. Acute attacks and
insidious attacks.
* Asthma has a tight bronchospastic cough. Wheezing
is the hallmark of asthma.
* Not everyone that has asthma wheezes and not everyone
that wheezes has asthma.
* Top three causes of chronic cough are asthma, postnasal drip, and GERD.
* Some people will have cough that is worse at night,
or cough worse with exercise, or with cold weather, of
after being exposed to smoke, or when cutting grass,
and so on.
* Asthma has wheezing, dyspnea, and a prolonged
expiratory phase (to make room for next breath).
* See symptoms of respiratory distress, accessory
muscle use, nasal flaring, intercostal retractions.
* Can complain of abdominal pain due to use of these
muscles for breathing, like doing lots of sit ups.
* Liver and spleen may be palpable on physical exam
because diaphragm pushes them down with hyperinflation.
* Clubbing is not a hallmark sign of asthma, they
oxygenate well be asthma attacks so no clubbing.
* No single diagnostic test for asthma. Usually
clinical diagnosis.

* Peripheral smear can show eosinophilia (NAACP

mnemonic). Sputum will have eosinophilia also.
* Allergy skin testing can help. Exercise testing in
older children can help. Response to bronchodilators
helps. Pulmonary function testing (PFT) before and
after bronchodilators is helpful, but not
* X-rays show hyperinflation, flattened diaphragm, ribs
more horizontal and maybe further apart, atelectasis
particularly in the right middle lobe, peri-hilar
inflammation. Also to rule out other parts of DDx.
* No need to get CXR on patient every time they get an
asthma exacerbation. For first time get a CXR to rule
out a mass. If fever, CXR to rule out pneumonia.
* Blood gases are not done routinely on asthma
patients. However, sicker patients get ABGs. Initially,
patients are hyperventilation so PCO2 low-normal. As
attack progresses, PCO2 rises. At late stage, pH drops
because youve used up all the buffers.
* Best treatment is to avoid triggers if patient knows
what they are. Daily management of the asthmatic
* Categories are acute, mild-intermittent, mildpersistent, moderate-persistent, severe-persistent.
* Acute attack of asthma managed with bronchodilators
(usually beta2 agonists), oxygen, and steroids.
* Mild-intermittent asthma is symptoms occurring less
than twice a week. Nocturnal symptoms (e.g. coughing).
These patients do not need daily medications. Use
short-acting inhaled beta2-agonists when symptoms.

* Mild-persistent means symptoms occur more than twice

a week, nocturnal symptoms more than twice a month.
Need daily medications, such as cromolyn (mast cell
stabilizer), nedocromil (stopped in 2008), or inhaled
steroids. These days (2010), leukotriene antagonists
(montelukast, zafirlukast, zileuton) have largely
replaced cromolyn. Inhaled corticosteroids used as drug
of choice for maintenance therapy. Beta2 agonist for
break through.
* Moderate-persistent is more frequent symptoms and
wheezing between exacerbations. Use inhaled
corticosteroids, long-acting beta2-agonists, and shortacting beta2-agonists for breakthrough.
* Severe-persistent asthma is daily symptoms with more
frequent hospitalizations. Use inhaled corticosteroids,
long- acting beta2-agonists, and short-acting beta2agonists for breakthrough. Leukotriene receptor
antagonists daily for maintenance therapy as well.
* Treatment of exercise-induced asthma is using beta2agonists prior to exercise. Giving a beta2-agonist like
albuterol after an attack starts (trying to play catchup) can be a dangerous game.
* Complications of asthma include pneumothorax,
respiratory distress, death.
* Causes of wheezing include asthma, foreign body,
Loeffler syndrome (pulmonary eosinophilia), cystic
fibrosis, bronchiolitis.


* 6mo presents with a three day history of URI, wheezy

cough, and dyspnea. Exam shows temp of 39C, 60/min,
nasal flaring, accessory muscle use, is air hungry, and
O2 sat at 92%.
* Bronchiolitis most commonly caused by respiratory
syncytial virus (RSV). Usually seen under age of 2yo.
* Generally upper respiratory symptoms prior to
developing coughing and wheezing.
* Bronchiolitis is not really a bronchoconstrictive
disease, more inflammatory. Since these children under
the age of 2 have narrower airways, they can get into
trouble with airway resistance and lower respiratory
tract infections.
* Causes include parainfluenza, mycoplasma, adenovirus,
and second-hand smoke predisposes.
* History of upper respiratory tract infections,
developing fevers, rattling cough with respiratory
* Exam shows rapid breathing, wheezing and crackles
possible, respiratory distress signs.
* Little children with bronchiolitis can get apneic
and cyanotic because they are getting tired.
* X-rays usually reveal hyperinflation, peri-hilar
atelectasis, viral pneumonitis or streaking, all not
* CBC usually normal. Best test to diagnose RSV
bronchiolitis is a nasopharyngeal wash.
* Quick fluorescence antibody of wash, if shows nothing
then can culture.

* Treatment is supportive for mild cases, humidified

air (clean vaporizer daily), bronchodilator trial.
* Some patients with bronchiolitis have a component of
asthma, so those would respond to bronchodilators.
* Some centers will give aerosolized epinephrine, can
be helpful.
* Corticosteroids are not indicated. Antibiotics are
not necessary because it is viral.
* Hospitalize if sick, like breathing very fast or
lower than 95% sats for an infant. Hospitalize
premature babies or babies less than 3mo. Worst stage
of disease is 3-5 days in, so if kid is pretty sick at
day 2 you should observer in the hospital. Patients
with chronic lung disease of congenital heart disease
should be hospitalized due to greater risk. Hospitalize
any baby with respiratory rate > 60/min or PO2 < 60 on
room air.
* Some children do well after getting suctioned out,
e.g. nasal suctions.
* Ribavirin is aerosolized, can be used for patients
with impending respiratory failure, immunodeficiencies,
bronchopulmonary dysplasia, neuromuscular diseases,
congenital heart disease.
* Mortality from RSV bronchiolitis is < 1%. Death can
occur from prolonged apneic episodes or due to
dehydration. Dehydration because they do not feed due
to constant breathing and due to respiratory water
* At risk babies can receive monoclonal antibodies as
prevention. RSV IV immunoglobulin not used anymore.
Palivizumab used now, monoclonal antibody against RSV

given IM once a month during peak season (winter,

November to March). High financial cost for this
* Patients with congenital heart disease go not get IV
or IM monoclonal antibody against RSV. * DDx includes

Cystic Fibrosis (CF);
* 3yo Caucasian girl presents with rectal prolapse.
She is in the less than 5th percentile for her weight
and height. The parents also note that she has a foulsmelling, bulky stool each day that floats. They also
state that the child has developed a repetitive cough
over the last few months.
* Exam can show nasal polyps.
* Cystic fibrosis is autosomal recessive on chromosome
* CF is a multisystem disease, old name was pancreatic
* CF characterized by thick secretions anywhere (not
just lungs), recurrent lung infections, airway
obstruction, malabsorption, and failure to thrive.
* It is the most common fatal inherited disease of
white children. Seen in 1:3500 white live births.
1:17000 black.
* Carrier rate is 1:20. Odds of couples finding each
other is 1:200. Odds of an affected kid is 1:4 of that.

Incidence of live births runs anywhere from 1:1600 to

* Gene codes for a protein, transmembrane conductance
regulator. A defect in this protein leads to an
abnormality in chloride transport. That produces
abnormal thick mucus, in lungs, GI tract, sweat glands,
GU system.
* CF patients will have an elevated salt content in
their sweat and other secretions. Have difficulty
clearing mucus secretions which leads to chronic lung
* Meconium ileus or meconium plug in a newborn should
be considered to have CF until proven otherwise.
* Some babies will present with recurrent upper
respiratory infections. Parents may say kid tastes
salty when they kiss him. Some may present with GI
symptoms like malabsorption of failure to thrive.
Presentation varies.
* When meconium plug is stuck in the bowel and does
not move (ileus), patient gets micro-colon distally.
* Rectal prolapse is very common in CF. Child may have
decreased fat due to malabsorption and chronic disease.
* Exam includes increased AP diameter, crackles,
wheezing, meconium ileus, delayed sexual development.
* CF patients can have malabsorption so chronic
diarrhea with fatty stools. Problems absorbing fatsoluble vitamins (ADEK). Can have biliary tract
problems rarely. Pancreas problems can lead to diabetes
even though they have an exocrine pancreatic

* 95% of CF boys will be sterile.

* CF kids can get dehydrated easily when exercising,
should drink much more fluids.
* Best test for diagnosis is sweat chloride level. Can
do genetic test but does not pick up every mutation.
* Sweat chloride level > 60 is considered positive.
* Treatment is intensive pulmonary toilet
(bronchodilators, chest percussion, suctioning),
aggressive management of infections (many get quickly
colonized with pseudomonas or staph aureus in lungs),
calories and vitamin supplementation, pancreatic enzyme
supplementation for absorption.
* Complications include infections, pneumothorax (due
to mucus plugging and coughing pressure), severe
chronic lung disease (do get clubbing), respiratory
tract colonization, pancreatic insufficiency,
* DDx is wide since it covers GI, pulmonary, endocrine,
electrolyte. Should do lots of sweat test.

* 5yo is brought to the physician because her mother
states that the child snores and keeps the other family
members awake at night. She also stops breathing each
night for approximately 20s and then wakes from sleep.
Additionally the mother states the child is not growing
well and has poor school performance. Exam shows
pleasant patient in no apparent distress. Findings

include mouth breathing, hypo-nasal voice, and 4+

tonsils without exudates.
* Apnea is the cessation of breathing for greater than
20 seconds. Obstructive sleep apnea is a combination of
prolonged partial upper airway obstruction and
intermittent cessation of breathing.
* Apnea can be central (from brain), obstructive (upper
airway), or mixed (most common form).
* Risk factors include large tonsils, large adenoids,
trisomy 21 with large tongue, cleft palate, isolated
* Usually patient with obstructive apnea will have
* Child may have history of mouth breathing and hyponasal speech with large tonsils with airway
* Diagnosis is made by sleep study (polysomnography).
* Treatment if enlarged tonsils/adenoids is a T&A
surgery, remove the problem.
* Complications include poor growth, cor pulmonale due
to hypoxia, poor school performance due to increased
sleepiness, death.
* DDx includes apnea of prematurity (apnea and
associated bradycardia, treat with caffeine or
theophylline), cyanotic breath holding (caused by
prolonged expiration, can have cerebral anoxia, less
than 3yo, hold breath due to anger, treatment is
reassurance), pallid breath holding (after painful
stimulus, turns pale/white, asystole, seizure,
treatment is atropine because of asystole), obesity-

hypoventilation (Pickwickian syndrome, seen with

Prader-Willi syndrome, caused by airway obstruction,
polycythemia, cor pulmonale, treatment is weight loss
if possible).

Sudden Infant Death Syndrome (SIDS):

* Still not single cause determined for SIDS.
* 2mo infant born without any complications via
spontaneous vaginal delivery is brought to the ED by
ambulance with cardiopulmonary resuscitation in
progress. According to the mother the patients was in
his usual state of health until 4am when she found the
patient cyanotic and not breathing. The mother states
that at midnight the infant was fed 4oz of formula
without difficulty. After feeding the child was placed
to sleep in the crib. At 4am she returned to check on
the infant and found the child unresponsive. She
immediately called EMS and began CPR. The child was
pronounced dead on survival in the Emergency
* Sudden infant death is an unexplainable death by
history of after a thorough autopsy, in infants (<
* SIDS is the most common cause of death in infants 1mo
to 12mo of age. < 1mo they die from prematurity,
congenital malformations, etc.
* No single etiology for SIDS, lots of investigations
on the cause.
* Peak incidence is around 2-3mo of age. Peak time of
year is winter January to February. Peak time is around
midnight to 9am.

* There is some relationship with sleep positioning.

Put babies on their backs. Back to sleep. Exception
would be obvious GE reflux issues. Tummy time is used
during the day for development.
* Risk factors are lack of prenatal care, prematurity,
maternal smoking, lower socioeconomic status.
* There is no diagnostic test because by definition a
SIDS baby is already dead.
* Acute life-threatening events or
occur, may be a cause or may not be
home on a home apnea monitor, which
the problem only helps recognize it

near-miss-SIDS can
a cause. May go
does not prevent

* Sleep positioning is the most important thing for

prevention, place baby on their back.

* 3yo child presents to the physician with a 104F
temperature, tachypnea, and a wet cough. Patients
sibling has similar symptoms. Child attends daycare but
has no history of travel or pet exposure. Child has a
decreased appetite but is able to take fluids, has
urine output, immunizations are up to date.
* Pneumonia is inflammation of the parenchyma
(pulmonary tissue). It is difficult to differentiate
viral from bacterial at times.
* Definitions are pneumonitis, lobar pneumonia, and
bronchopneumonia depending on localization.

* Risk factors are infectious agents (viruses,

bacteria, fungi, parasites), aspiration.
* Viral pneumonia is the most common cause of pneumonia
in children.
* Generally, children with viral pneumonia do not look
as sick as children with bacterial pneumonia.
* Bronchiolitis is considered a viral pneumonitis.
Viral pneumonia presents with wheezing, cough, maybe
stridor, some crackles possible, diffuse lung symptoms.
* Bacterial pneumonia signs include cough, higher
fevers, more shortness of breath, more respiratory
symptoms, and most localized lung findings like
decreased breath sounds.
* Remember percussion. With bacterial pneumonia there
will be dullness to percussion over a localization.
* Mycoplasma (walking) pneumonia will be a patient
that doesnt look so bad but x-ray looks terrible.
* Chlamydia pneumonia has staccato cough and history of
eye discharge, low grade or no fever.
* Aspiration pneumonia with preceeding history of
something happening.
* CXR helpful. Difficult to get sputum sample in
children. Transtracheal suction (past vocal cords) is
* CXR with viral will show a diffuse bilateral
streakiness. Bacterial will show consolidation, round
pneumonia in children looks like coin lesion.
* Mycoplasma CXR shows interstitial pattern in the
lower lobes.

* Chlamydia CXR shows hyperinflation or ground-glass

appearance like RDS.
*Aspiration CXR shows pneumonitis in locations of
* CBC helpful in differentiating viral from bacterial.
Bacterial will have elevated WBC with predominantly
neutrophils. Viral will have elevated WBC with
predominantly lymphocytes.
* If you tap a pleural effusion, send that for
* If mycoplasma suspected, do mycoplasma titers. Can do
cold agglutinins but titers are better.
* Treatment for viruses is symptomatic. For bacteria is
antibiotics, most commonly caused by strep pneumonia.
* If you suspect strep pneumonia as the cause of severe
invasive disease (e.g. meningitis), start patient on
vancomycin and ceftriaxone until sensitivities come
back. Increasing numbers of strep pneumonia that are
intermediately resistant to cephalosporins.
* Treatment for chlamydia pneumonia is erythromycin.
* Treatment for group B strep, E. coli, or listeria is
ampicillin and third generation cephalosporin or
ampicillin and aminoglycoside.
* Treatment for strep pneumonia is penicillin, but
start broader until sensitivities come back.
* Treatment for mycoplasma is macrolides (erythromycin,
azithromycin, clarithromycin).
* If pneumatoceles (abscesses) seen on CXR, think staph

Syndromes & Trisomies;
* Down syndrome: septal defects, patent ductus, aortic
arch findings.
* Hold-Oram syndrome: atrial and ventricular septal
defects, arrhythmias.
* Marfan syndrome: dilatation and aneurysms of aorta,
aortic and mitral valve insufficiency, mitral valve
* Noonan syndrome: atrial septal defect, pulmonic
* Turner's syndrome: coarctation of the aorta, bicuspid
aortic valve.
* Williams syndrome: supraventricular aortic stenosis,
pulmonary artery stenosis.
* Trisomy 13: patent ductus, septal defects, pulmonic
and aortic stenosis (atresia).
* Trisomy 18: ventricular septal defect, polyvalvular
disease, coronary abnormalities.


* Children, particularly infants, do not present in

heart failure like adults do. Cant ask an infant how
far they crawl before they get tired, or how many
stuffed animals they have to put under their head when
they sleep.
* Infants in possible heart failure will have problems
with feeding, get tired easily (because of feeding),
can sweat during feeding, tachypnea.
* Older children will have shortness of breath, can
have dyspnea on exertion.
* Orthopnea, edema, nocturnal dyspnea are uncommon in
children. So not the same as with adults.
* Physical exam will show tachycardia (know normal
rates for kids).
* Height and weight are always helpful. Severe
congenital heart disease kids are usually small, may
have FTT.
* On exam, always palpate upper and lower extremity
pulses. Should get upper and lower extremity BPs. A
delay in pulses should make you suspicious for
* Exam may be helpful by demonstrating crackles on
auscultation. This is indicative of pulmonary edema and
left- sided heart failure. Hepatomegaly is indicative
of right-sided heart failure.
* With congenital heart disease, can get cyanosis and
clubbing because of persistent chronic hypoxia.
* Murmurs can be heard. Grade I murmur is difficult to
hear, the cardiologist murmur. Grade II is faint but
can be heard with background room noise. Grade III is

louder than II but no associated thrill, may be heard

when baby is crying for example. Grade IV-VI has an
associated thrill, feels like a cat purring if youve
felt that. Grade V has thrill that can be heard if
stethoscope is touching chest wall at an angle. Grade
VI is thrill heard with stethoscope just above (not
touching) the chest wall.
* Diagnostic tests include chest x-rays (size of heart,
lung field flow, rib notching, position of aorta and
pulmonary trunk), electrocardiogram (right axis
deviation, left ventricular hypertrophy, right
ventricular hypertrophy, bundle branch blocks), MRI
(double aortic arch), cardiac catheterization,
angiography, exercise testing.
* The test of choice for most of these congenital
defects is an echocardiogram.
* Differential clubbing, toe has clubbing but the hand
does not, think longstanding patent ductus arteriosus.
* If you see gross malformation of the upper
extremities, think about associated cardiac defects
* In utero, oxygenation occurs at the placenta. Right
side of the heart does a lot of pumping. Lungs are a
high- resistance low-flow field. Communication between
atria via foramen ovale and between pulmonary artery
and aortic arch via ductus arteriosus.
* When cord is clamped and baby takes a breath, we
begin to convert to adult circulation. Foramen ovale
starts to close, ductus arteriosus starts to close as
response to oxygen tension (takes a couple of days).

* In certain heart defects, we can keep the ductus open

to our advantage. Symptoms may not appear until the
ductus begins to close. These are ductal dependent

Innocent Murmurs;
* 5yo male is seen for routine physical examination.
Parents voice no concerns. Weight and height are at
75%. Vital signs are normal. Physical exam is
remarkable for a soft musical grade II/VI murmur best
heard at the left lower sternal border.
* Important notes here are that the kid made it to age
5, so probably not a bad murmur. Weight and height are
fine, vital signs are normal. So probably an innocent
murmur (e.g. functional murmur, flow murmur).
* Pathophysiology is simply hearing flow through a
normal heart, no holes, no valvular disease.
* Most innocent murmurs heard between ages 2 and 7
* More than 30% of children may have an innocent murmur
heard at some point in their lives.
* Innocent murmurs usually heard on routine physical
exam, maybe more likely when there is increased cardiac
output such as with fever, infection, nervous.
* Rarely can you say always or never in medicine. But,
an innocent murmur is never in diastole. There are
pathologic murmurs in systole. Any diastolic murmur is

* Innocent murmurs are not greater than II/VI grade.

* Typical sound is soft vibratory musical murmur.
Heard best at left lower to mid-sternal border.
* What is the next step? Answer is reassurance. Do not
do an echo or any other tests. Reassure parents.
* DDx includes pulmonary flow murmur (form of innocent
flow murmur, higher pitched, blowing, heard in early
systole, heard at left parasternal border), venous hum
(heard in neck or anterior chest, systolic and
diastolic, goes away when you compress a jugular vein).

Congenital Heart Disease;
* Congenital heart disease occurs in about 0.5-0.8
per 100 live births. Lesions occur early on about 15-80
days of gestation. Diagnosis is usually made early on
in life. Over half of patients diagnosed by 1mo of age.
* Murmurs may not be heard initially. Murmurs are only
heard when there is flow through a defect. The only
time there is flow through a defect is if there is a
different in pressures. When babies are born, their
pulmonary vascular resistance tends to be high still.
So you may not hear a murmur. When the resistance drops
so that flow changes, then youll heard murmurs.
* So it isnt that an ASD was missed until 3-4mo of age
or that the baby developed the ASD at that point. The
baby was born with the defect but it was not heard
until 3-4mo because that is when the pressures changed
enough for the flow to be heard across the defect.

* 30% of patients with congenital heart disease have

other anatomical abnormalities (e.g. limbs, TE
* Congenital heart defects are most commonly
idiopathic. Other causes include congenital rubella,
fetal alcohol syndrome, maternal lithium use, Noonan
syndrome, Down syndrome, and so on.
* Murmurs are split into stenotic and shunting.
Stenotic divided into aortic stenosis, pulmonic
stenosis, coarctation of the aorta. Shunting divided
into right-to-left (cyanotic), left-to-right
(acyanotic), mixing-lesions.
* Cyanotic-lesions are the 5Ts and a P: Tricuspid
atresia, Tetralogy of Fallot, Transposition of the
great vessels, Truncus arteriosus (mixing lesion),
Total anomalous pulmonary venous return (maybe),
Pulmonic stenosis.
* For cyanotic heart disease, think the 5 Ts and 1 P.
Could toss in hypoplastic left heart.

Ventricular Septal Defect (VSD);
* 3mo child presents with poor feeding, poor weight
gain, and tachypnea. Physical exam reveals a harsh
pansystolic 3/6 murmur at the left lower sternal
border. Hepatomegaly is found.
* Pansystolic implies you will not hear S1 and S2 well.
Sounds like grind pause grind pause grind pause.

* VSD is the most common congenital heart defect. One

of the reasons that it is so common is because it is
found in association with other heart defects.
* VSD is a left-to-right shunt, acyanotic shunt. LV
beats, pushing some blood out aorta and some into the
* Presentation depends on the size of the shunt. May
not hear a lot of murmur initially when the pulmonary
vascular resistance is high and there is not a lot of
shunting. Large defects allow for a lot of shunting.
* If you have persistent high flow from left-to-right,
there is more flow to the lungs. The pulmonary
vasculature will hypertrophy to help limit the amount
of flow to the lungs. This will cause remodeling,
eventually pulmonary vascular resistance increase and
pulmonary hypertension. When pulmonary hypertension
gets high enough, the shunt will change right-to-left,
turning the acyanotic disease to a cyanotic disease
(Eisenmenger complex).
* Small defects are usually asymptomatic.
* VSD murmur is usually harsh holosystolic/pansystolic
* Large defects can lead to heart failure, manifested
by dyspnea, poor feeding, poor weight gain, tachypnea,
sweating while they feed.
* CXR for VSD will show an enlarged heart. If small
defect, wont see much.
* Electrocardiogram will show left ventricular
hypertrophy (LVH). Large defects will show
biventricular hypertrophy (LVH + RVH).

* Best test is echocardiogram. Echo will show

* Small defects will resolve on their own, usually in
1-2 years.
* Treatment includes antibiotic prophylaxis for dental
or surgical procedures to prevent endocarditis.
* Medical management is to manage heart failure,
diuretics, digitalis, eventually surgical closure +/patch.
* Eisenmenger syndrome generally cannot be corrected
once there is right-to-left shunting. Definitive
surgical treatment is a heart-lung transplant. 10 year
post-transplant survival rate is around 25%.

Atrial Septal Defect (ASD);
* In ASD, most blood goes from LA to LV but some gets
into RA due to lower pressure.
* ASD occurs anywhere along the atrial septum. Most
common is ostium secundum defect. Most asymptomatic.
* Can have some exercise intolerance as they get older.
* Murmur is systolic, wide fixed-split of S2.
* Normally you get an S2 split with a deep breath. When
you breath in you get a decrease in intrathoracic
pressure and a little bit of extra blood gets sucked
from systemic venous circulation into the RA. So there
is a little bit more blood to the RV to pulmonary
trunk, meaning it takes a little bit longer for the
pulmonary valve to close.

* With ASD, you hear the murmur in systole because

there is increased pulmonary blood flow.
* Fixed S2 in ASD occurs because there is always more
blood returning to the RA (from the defect coming
through LA), more blood to RV, and more blood out
pulmonary trunk thus later closure of the pulmonic
* Most patients do not have problems, some exercise
intolerance later in life.
* CXR can show enlarged RA and enlarged RV, depending
on how big the shunt it.
* ECG could show RA enlargement and RA conduction
* The best test is an echocardiogram.
* Treatment is surgical correction. Can be done
transvascular (femoral) or open heart with patch
* In general, ASDs do not close on their own.
* Not a high flow lesion so no major risk of
endocarditis, prophylaxis not really needed.
* Complications include heart failure (3rd decade of
life), dysrhythmias, valvular insufficiency.
* Most children are fixed by about 4-5 years of age so
they do not have to miss school.

Patent Ductus Arteriosus (PDA);

* In PDA, blood goes out aorta then through ductus

back into the lungs, left-to-right shunt.
* PDA more common in girls. Associated with congenital
rubella. Common in premature infants.
* Premature infants tend to respond better to medical
management than term infants with PDA.
* PDA could be helpful with other defects to help
bypass flow. RV outflow tract obstruction would
normally be fatal, but a PDA would allow for mixing of
* Small PDAs usually do not cause problems. Large PDAs
can cause problems similar to large VSD.
* With PDA, can have wide pulse pressure. Instead of
120/80, could get 120/40.
* Physical exam will show bounding pulses on the palms
and soles of the foot in premies.
* Sometimes there is a heave.
* Typical murmur is a machinery or to-and-fro murmur.
Heard in systole and diastole. Sometimes in infants you
will only hear a systolic ejection murmur.
* CXR shows prominent pulmonary artery due to increased
flow, increased pulmonary vascular markings due to
increased flow, heart size may be normal or slightly
* Best test is echocardiogram.
* Some PDAs can close spontaneously in premature
babies. They respond to indomethacin.
* Best medication to close the PDA is indomethacin.
Does not work as well with term babies.

* With term babies, do surgical closure (ligation) with

a rib incision for entry, so not open heart surgery.

Endocardial Cushion Defects;
* Endocardial cushion defect is a common AV canal, an
ASD and VSD. Even through left-to-right, they become
cyanotic because of increased flow to the lungs,
pulmonary hypertension, then Eisenmenger syndrome.
* Endocardial cushions are where the valves come from
and the septum. So ASD, VSD, and cleft mitral valve.
* Endocardial cushion defects more common in Down
syndrome, trisomy 21. Since there is a huge flow to the
lungs, these patients will go into heart failure very
easily (1-3mo of age). Now youre stuck, you have to
wait for the child to be big enough so the surgery is
feasible, but many times the kid cant get big enough
due to illness.
* Patients will have heart failure early in infancy,
hepatomegaly indicative of right sided failure, and
* CXR shows increased pulmonary blood flow. Will have
pulmonary hypertension so can develop Eisenmenger.
* Exam can show a thrill. S2 will be widely split
because of increased pulmonary blood flow. Diastolic
murmur can occur due to mitral valve insufficiency.
* Best test is echocardiogram. CXR will show enlarged
heart. ECG will show LAD, biventricular hypertrophy, RV
conduction delay. Color flow Doppler with echo will

show blood shunting at both levels, atrium and

* Treatment is medical management of heart failure
until surgery. Surgery is patching ASD and VSD then
fixing the cleft mitral valve if possible. Technically
that is easy to do, the problem is post-operatively
because now you have no pop-off valve, right side of
the heart is not use to pumping against high pressures,
if high pulmonary hypertension the right side of the
heart can fail.
* Just because you hear a murmur doesnt mean jump to
the echo. Do a CXR and ECG first, then echo.
* Fetal echocardiography is not a screening test. It is
for diagnosis.

Coarctation Of The Aorta;
* Coarctation of the aorta is a constriction of the
aorta that can occur at any point but most commonly
(98%) occurs just below the origin of the left
subclavian. Majority have some ductal-type tissue.
* 9day old is brought to the ED because of difficulty
feeding and having problems breathing. Physical exam
reveals BP of 150/100 in arm, baby is tachypneic,
retracting, with poor capillary refill.
* Next test is lower limb pressures. Lower extremities
show BP 50/30. Baby has coarctation until proven
* What is the next step in management? Give
prostaglandin to keep the ductus open, The coarctation

has ductal tissue in it and keeping it open will help

get forward flow to the rest of the body.
* Coarctation more common in boys, increased incidence
in Turner syndrome (with bicuspid aortic valve also).
* Coarctation can be missed in the newborn because the
ductus is still open during exam in the nursery. When
the ductus closes is when you get problems, which is
why you re-open the ductus until you can fix it.
* Patients can presents with heart failure, metabolic
acidosis, and lower body hypoperfusion, hypotension in
the lower extremities, hypertension in the upper
extremities, differences in blood pressure between arms
possible (probably coarctation around the left
subclavian), may hear a murmur.
* CXR findings depend on the age of the patient. Rib
notching seen in older patients with smaller
coarctation so they have time to develop collateral
circulation (internal thoracics to intercostals).
* Other cause of rib notching is Von Recklinghausen
because of the neurofibromas along the intercostal
* CXR will show cardiac enlargement in the infant with
severe coarctation, increased pulmonary vascular
markings, rib notching in older patients.
* ECG shows RVH in infants, LVH seen later in childhood
as you try to overcome the obstruction if mild.
* Test of choice for the diagnosis is echocardiogram.
* Treatment is prostaglandin in ductal dependent
coarctation and then surgical correction.

* Complications include hypertension because kidneys

are not seeing blood, premature coronary artery
disease, heart failure, encephalopathy, intracranial
hemorrhage. Adults at higher risk for endocarditis.
Tetralogy Of Fallot (TOF);
* 6mo infants is prone to episodes of restlessness,
cyanosis, and gasping respirations. Symptoms resolve
when he is placed in the knee-chest position. Exam
reveals an underweight infant with a harsh holosystolic
murmur and a single S2 heart sound.
* TOF is pulmonary (infundibular) stenosis, over-riding
aorta sitting over VSD, right ventricular hypertrophy.
* Spasm of the infundibular area just below the
pulmonic valve can lead to tet spells. Increased Rto-L shunting.
* Pentology of Fallot is less common, add an ASD to
pulmonary stenosis, VSD, over-riding aorta, RV
* Symptoms depend on the size of the VSD and the size
of the RV outflow tract obstruction.
* TOF is the most common cyanotic congenital heart
* TOF may not present with cyanosis in the first 24h of
life. If a heart disease presents with cyanosis within
the first 24h of life, think of transposition of the
great vessels.
* Acyanotic TOF pink tet if there is enough pulmonary
blood flow, so not as much shunting or RV outflow tract

* Most patients present with cyanosis, delayed growth

and development, heart failure, hypoxia, can have
dyspnea, have paroxysmal hyper-cyanotic attacks known
as hypoxic attacks or blue spells or tet spells.
* Tet spells are relieved by putting infant in the
knee-chest position. Older children will squat down.
This increases the systemic vascular resistance and
thus decreases the amount of shunting that occurs.
* Will see clubbing because of chronic hypoxia, will
hear loud harsh systolic ejection murmur.
* S2 will be single because the pulmonic stenosis
prevents closure so you only hear the aortic valve
* CXR will have a boot shaped heart (cor en sabot),
decreased pulmonary blood flow will result in less
fluid in the pulmonary vasculature so the lungs will be
very radiolucent.
* ECG will show RVH and right axis deviation (RAD).
* Test of choice is echocardiogram for diagnosis.
* Medical management if severe right-sided lesion keep
ductus open for a little while (prostaglandin).
* Surgical repair of the defects is the definitive
* Blue spells are treated with beta blockade, sedation,
oxygen, knee-chest position, and avoiding acidosis.
Keep these kids properly hydrated. Since chronically
hypoxic, tend to have high hematocrit levels.
* Complications include cerebral thrombosis because of
the polycythemia due to chronic hypoxia (usually less
than 2yo), brain abscesses, bacterial endocarditis.

Transposition Of The Great Vessels;
* Blood from systemic circulation comes into the RA to
RV then out the aorta back out to the body. Meanwhile,
blood from the lungs goes into the LA to LV then out
the pulmonary trunk and back to the lungs. So you get
two separate circulations, which is incompatible with
life. To save this, there has to be a mixing
communication, either through ductus, ASD, or VSD.
* Transposition of the great vessels is the most
common cyanotic heart disease seen in first 24h of
* What is the next step in management? Answer is
* Transposition more common in infants of diabetic
mothers and in boys.
* Symptoms are cyanosis in first 24h of life and rapid
onset heart failure. May or may not hear a murmur.
* CXR shows egg on a string, egg shaped heart.
* Definitive test is echocardiogram for diagnosis.
* Keep kid on prostaglandin until you figure out what
is going on.
* Treatment is surgical repair of great vessels.
* Surgical repair is arterial switch procedure, Senning
of Mustard procedure if at atrial level, Rastelli for

Pulmonary Atresia & Tricuspid Atresia;
* Right ventricular blood backs up from the ventricle,
shunting across the foramen ovale, causing right-toleft shunting and thus a cyanotic disorder.
* Pulmonary atresia symptoms usually seen at 2-3days
when ductus closes.
* Will hear a single S2 heart sound.
* ECG shows tall spiked p-waves, RA enlargement, LV
* Treatment is keep ductus open with prostaglandin
until definitive surgery.
* Mnemonic: ENDomethacin (indomethacin) ENDs ductus.
PGEE (prostaglandin) kEEps ductus open. *
Tricuspid atresia is a right-sided obstruction, a RA
outflow tract obstruction. Blood backs up and goes
across foramen ovale, becoming a cyanotic heart
* Will hear a single S2 heart sound.
* Treatment is keep ductus open with prostaglandin
until definitive surgery.
* Treatment is Fontan procedure with Glenn procedure as
first stage, connect SVC to pulmonary artery. This
allows blood to return from the head and neck. When the
child gets older, you do the second step Fontan
procedure. This takes the IVC and connects to pulmonary
trunk for passive return to the lungs.

Total Anomalous Pulmonary Venous Return;
* Total anomalous pulmonary venous return is when 1
or all 4 of the pulmonary arteries return to the
systemic circulation. So you have oxygenated blood
going back to the venous circulation then coming back
to the right side of the heart and back to the lungs.
* Sounds like a left-to-right shunt, but the vessels
take a long tortuous route, so they can kink off. If
they kink off, blood backs up to the lungs, then backs
up further, then you get right-to-left shunting and
* Mixed blood will reach the left atrium via an ASD or
foramen ovale.
* CXR shows snow man or figure eight figure-8.
* Diagnosis best test is echocardiography.

Truncus Arteriosus;
* Truncus arteriosus is one common vessel coming out
of the ventricles. So mixing with pulmonary trunk and
aorta since they are connected at the base.
* Cyanosis can occur depending on the type of defect
and mixing.
* Treatment is surgical correction.

* Conotruncal defects associated with DiGeorge syndrome

(hypocalcemic infant). * Single vessels from both
ventricles supplying pulmonary and systemic blood flow.
Always a VSD present.

Hypoplastic Left Heart Syndrome ;
* Hypoplastic left heart syndrome is underdevelopment
of the left side of the heart.
* Right heart has to do most of the work. Right heart
is not made to pump against high resistances so it will
eventually fail, pulmonary venous hypertension.
* These patients will go into congestive heart failure
within a couple of hours.
* Diagnosis best test is echocardiography.
* Treatment is with surgical correction. These patients
do very poorly.

* 7yo girl presents to the office with a three week
history of progressive dyspnea, malaise, and fatigue.
She has recently recovered from a viral syndrome.
Physical exam is remarkable for a holosystolic murmur
and hepatomegaly. This child is in congestive heart
* Myocarditis is an inflammation of the myocardium.

* Viral causes include adenovirus and coxsackie virus,

but diphtheria, rickettsia, fungal infections, and
parasites can cause myocarditis. Can have connective
tissue and granulomatous tissue diseases.
* Heart failure is the most common presentation of
myocarditis. Arrhythmias and sudden death are less
* Infants have a more acute and fulminant presentation.
* Viral myocarditis is usually preceded by a viral
* Fever, heart failure, respiratory distress, and
cyanosis may all be present.
* ESR (sed rate) is non-specific, may be high, not best
test or first test.
* LDH (lactate dehydrogenase) may be high.
* Serum viral titers can be helpful if they are
elevated or positive.
* PCR is good for viruses.
* CXR is non-specific, showing a large heart and heart
* ECG shows sinus tachycardia, maybe a reduced QRS
complex and abnormal S and ST waves.
* Echocardiography shows poor ventricular function and
possible pericardial effusion, can eliminate congenital
heart disease as a cause.
* Best test is endomyocardial biopsy for diagnosis.
This is definitely not the first test or the most
common test.

* Treatment is heart failure management, arrhythmia

management, pericardiocentesis if significant
pericardial effusions to prevent tamponade, steroids
controversial, heart transplant if patient is
refractory to med management.
* Prognosis is pretty poor. Spontaneous regression can

Endocardial Fibroelastosis (EFE);
* EFE is characterized by a thickened, white,
fibroelastic endocardium.
* Can have primary or secondary EFE. Primary meaning no
predisposing valvular lesion. Secondary has severe left
sided obstructive disease.
* Primary EFE will have a dilated left ventricle.
Secondary will have a contracted ventricular cavity.
* Usually these patients present with congestive heart
* Infants with CHF present with dyspnea, poor feeding,
poor weight gain, sweating.
* CXR shows a large heart. ECG shows LV enlargement, LV
* Echocardiogram, the best test, shows a poorly
functioning left ventricle.
* Treatment is medical management of congestive heart
failure. If that fails, heart transplant.

Acute Rheumatic Fever;
* 6yo girl complains of severe joint pains of her
elbows and wrists. She has had a fever for the past
four days. History reveals a sore throat one month ago.
Exam is remarkable for swollen painful joints and a
heart murmur. Lab tests show an elevated ESR and a high
anti-streptolysin O (ASO) titer.
* Rheumatic fever is caused by infections with group A
beta-hemolytic strep. History of pharyngitis.
* Skin infections with group A do not predispose to
rheumatic fevers.
* Usually this occurs 1-3 weeks after having
pharyngitis. You do not need to treat strep pharyngitis
right away. You can wait for the strep culture to come
* JONES major criteria are carditis, polyarthritis,
erythema marginatum rash, chorea, and subcutaneous
nodules. Minor criteria are fever, arthralgia, elevated
acute phase reactant (sed rate, C-reactive protein),
prolonged PR interval on ECG, plus evidence of previous
strep infection (strep culture, ASO titers).
* JONES mnemonic: Joints, heart (carditis, O looks like
a heart), Nodules, Erythema, Sydenham chorea.
* ACCES mnemonic: Arthritis, Chorea, Carditis,
Erythema, Subcutaneous nodules.
* Two major Jones criteria is rheumatic fever. One
major, Two minor, Plus preceding evidence of infection
then also rheumatic fever. Diagnosis of exclusion and
by criteria, no specific test.

* Treatment is to manage strep infection (penicillin)

then monthly penicillin until about age 21. Salicylates
will help control the arthritis. Also treat the
carditis. Steroids used if carditis and heart failure.
Manage the heart failure.
* Complications include valvular disease (mitral first,
aortic next, tricuspid next, pulmonary last).

* 6yo boy has had high intermittent fevers for three
weeks accompanied by chills. He has a history of
bicuspid aortic valves and recently had dental work.
* Endocarditis seen with high-outflow left-sided lesion
and recent surgery (bacteremia).
* Strep viridans is the most common cause of
endocarditis. Staph aureus can occur particularly if no
underlying heart disease. Strep viridans more common
after dental procedures. Pseudomonas and serratia are
seen with intravenous drug abusers. Fungal causes can
occur after open heart surgery.
* Endocarditis most commonly seen after rheumatic fever
or congenital heart disease.
* Higher risk occurs in patients with high velocity
blood flow, like VSD or left sided obstructive lesion.

* Fever is very important, can be high fever. Chills,

arthralgia, new murmurs due to vegetations,
splenomegaly, petechia. Neurologic complications
associated with staph aureus.
* Skin manifestations are usually secondary to
vasculitis, Osler nodes, Janeway lesions, splinter
hemorrhages (thromboembolic phenomenon).
* Diagnosis is by blood culture. If you grow nothing
and they spike a fever, culture again.
* Echocardiography can reveal vegetations.
* Treatment is with antibiotics and heart failure

* 5yo girl is noted to have blood pressure above the
95% on routine physical exam. The rest of the physical
exam is unremarkable. Her blood pressure remains
elevated on repeat measurements over the next few
weeks. History includes treated urinary tract infection
a year ago. CBC normal. UA normal. BUN 24, Creatinine
* Hypertension in older children (adolescents) is
similar to hypertension in adults, essential
* Hypertension in a young child always has to be worked
* BP needs to be repeated to confirm hypertension.

* In children, a majority of hypertension is renal in

* Systemic hypertension is defined as BP above 95% for
age on repeated measurements over a 6-week period.
* Hypertension can be primary (essential) or secondary.
Can be hereditary, salt intake, diet, obesity.
* 75-80% of hypertension in children is caused by renal
* Look for prior UTI, hydronephrosis, premie with
umbilical artery catheter causing thrombosis.
* Hypertension usually does not cause symptoms and is
usually found on routine physical exam.
* DDx include coarctation so take pressures on all
* All children with secondary hypertension should get a
renal evaluation (start with ultrasound).
* Echocardiography done to assess ventricular size and
* Treatment is diet, exercise, limit salt intake,
medications like diuretics, ACE-I, Ca-blockers, betablockers.

Abdominal Pain;
* Acute abdominal pain most commonly caused by
gastroenteritis in children.
* Look for age of child, male or female, quality of
abdominal pain, localization.

* Diagnostic tests vary by problem. Can order CBC,

urinalysis, pregnancy test, serum amylase, CXR,
abdominal films, CT scan of abdomen.
* DDx < 2yo, trauma, intussusception, incarcerated
hernias, volvulus, urinary tract infections,
* DDx age 2-5, sickle cell anemia, lower lobe
pneumonia, urinary tract infections, Meckel
diverticulum, appendicitis (any child).
* DDx adolescent females, Mittelschmerz, ectopic
pregnancies, pelvic inflammatory disease.
* Other DDx includes pancreatitis, Henoch-Schnlein
purpura, mesenteric adenitis (e.g. from strep
pharyngitis), lead poisoning, diabetic ketoacidosis,
renal stones, cholecystitis.
* Chronic abdominal pain is three or more episodes of
abdominal pain severe enough to affect activities,
occurring over a three month period.
* Chronic abdominal pain occurs in 10-15% of children
between the ages of 5-15. Causes include constipation,
lactose intolerance, parasites, inflammatory bowel
disease (IBD), peptic ulcer disease (H. pylori),
pancreatitis, cholelithiasis, urinary tract infection,
abdominal epilepsy (rare), porphyria (rare).
* Abdominal epilepsy is the manifestation of the
epileptic seizure.
* Non-organic causes of recurrent abdominal pain in
children include functional abdominal pain (irritable
bowel syndrome, IBS).

* May ask a child how it feels and theyll say oh it

hurts. Ask where it hurts and they say all over.
* Child has episodes of abdominal pain occurring every
school-day morning, doesnt wake them up at night, goes
away by noon, doesnt affect play activity, doesnt
happen on weekends/holidays. This is school anxiety,
maybe a bully. Similar to the kid who doesnt want to
use the toilet at school and has constipation.
* Stressors can produce abdominal pain, exams, school,
relocating to another house/town, family member
illness, sibling rivalry. The patient has real pain
here that they feel in their abdomen.
* Irritable bowel syndrome can present as recurrent
abdominal pain, can produce pallor, nausea, vomiting,
lethargy, diarrhea, constipation. 30% will have
nocturnal enuresis, fears, and sleep disturbances.
Parents may have suffered from abdominal pains.
* No one best test here. History is key. Physical exam
may be normal.
* If recurrent abdominal pain, reassure parents. Order
CBC, sed rate, urinalysis.
* Abdominal film may show a calcified mass (fecolith)
near the appendix, ileus, obstruction.

* 13mo child
watery stools.
Exam reveals a
membranes, and

has had a three day history of green

She has also been vomiting for one day.
febrile, irritable baby, with dry mucous
sunken eyes.

* This child is dehydrated. Cause is fluid loss in

* Most common cause of diarrhea in this age group is
viral, particularly rotavirus. * Diarrhea is increased
stool output with increased losses of fluids and
electrolytes. Can be acute or chronic.
* Secretory diarrhea (decreased absorption, increased
secretion), osmotic diarrhea (maldigestion, transport
deficits of non-absorbable solute), increased motility
(decreased transit time), decreased surface area (short
bowel syndrome, premature baby with necrotizing
enterocolitis), mucosal invasion (inflammation,
decreased colonic absorption, increased motility).
* Causes of diarrhea are age dependent. Most common
cause of winter-time diarrhea in young children is
rotavirus, tend to have watery green stools that smell
* Other causes include food poisoning, systemic
infections, parasites, antibiotic side-effects (e.g. C.
* Most common causes of acute diarrhea in infant,
child, adolescent is gastroenteritis.
* Chronic diarrhea in children, worry about a postinfectious lactase deficiency. This is usually
temporary, lasting a couple of weeks to a couple of
* Chronic diarrhea of infancy is typically a child who
has watery stools every day but is otherwise fine.
Child is happy, well hydrated, gaining weight.
Treatment is do nothing.

* Chronic diarrhea causes include malabsorption like

Celiac disease and cystic fibrosis. Giardia. IBS. IBD.
* Adolescent with chronic diarrhea, IBS and IBD higher
in differential, then lactose intolerance and Giardia,
followed by laxative abuse (e.g. teenage girl worrying
about body image).
* Viral agents: rotavirus is the most common,
adenovirus and Norwalk viruses.
* Bacterial agents: E. coli (O157), salmonella
(undercook poultry, raw eggs, pet turtle), shigella,
campylobacter, yersinia, clostridium.
* Parasitic agents: amebic dysentery, entamoeba
histolytica, giardia, crypto.
* Rotavirus will cause watery diarrhea, can last for 710 days. Can be accompanied by vomiting. May have some
fever and can get dehydrated, particularly infants.
* E. coli seen in nurseries and daycare.
Enterotoxigenic E. coli (ETEC, travelers diarrhea).
Enterohemorrhagic E. coli (EHEC) can cause
enterocolitis and hemolytic uremic syndrome (HUS).
* Shigella and campylobacter are usually person to
person spread, from contaminated food or water.
* Yersinia is associated with pets, usually puppies.
Can develop an arthritis and rash.
* C. diff associated with prior antibiotic use. Send
stool for C. diff toxins.
* Staph aureus food poisoning associated with an
outbreak, 12h of eating, short lived, church picnic
potato salad.

* Entamoeba histolytica will cause acute bloody

* Giardia associated with anorexia, nausea, abdominal
distention, foul-smelling stool. Can get stool for ova,
cysts, and parasites. Or can do a duodenal aspiration
for giardia. String test (old test) where you swallow a
capsule that has a string in it, it dissolves, you pull
the string out the stool and check for Giardia.
* Cryptosporidium not usually seen in immune-competent.
In AIDS, causes persistent chronic watery diarrhea and
is almost impossible to eradicate.
* Can send stool for cultures of shigella, salmonella,
E. coli, campylobacter, yersinia, and so on.
* The best test to diagnose diarrhea is stool studies.
* Treatment is usually supportive. No need to give
anti-spasmotics. Give fluids by mouth, if too sick give
by IV. Do not give medications that stop diarrhea,
they just slow peristalsis and you still have the large
watery stool inside.
* Treatment of salmonella is not recommended because it
prolongs the carrier state. Salmonella hides in the
gallbladder. Treatment only indicated if the patient is
< 3mo, really sick, has disseminated disease, or S.
* Treatment of shigella with
trimethoprim/sulfamethoxazole (TMP-SMX).
* Treatment of campylobacter is supportive, generally
self-limiting, erythromycin helps decrease sickness
period and period of contagiousness.

* Treatment of yersinia is supportive. If < 3mo or

septic, treat with antibiotics.
* Treatment of C. diff with metronidazole or
vancomycin, stop other antibiotics.
* Treatment of entamoeba with metronidazole.
* Treatment of giardia with metronidazole of

* 6yo boy complains of hard bowel movements every 5th
day. Exam is normal for weight and height. Abdomen is
soft and hard stool is palpable on rectal exam.
* Constipation is the infrequent passage of hard dry
stools. Obstipation is the inability to pass any
* Most common cause of constipation is voluntary
withholding, functional constipation. This is outside
of infancy as an infant cannot voluntarily withhold.
* Constipation can occur secondary to defects in
filling or emptying of the rectal vault. Other causes
include imperforate anus, Hirschsprung syndrome,
infantile botulism (no honey in first year of life).
* Constipation causes hard stools, sometimes liquid
stools (looks like diarrhea) then encopresis.
* Think about Hirschsprung anytime a neonate presents
with constipation.

* Diagnosis for Hirschsprung is by biopsy. Encopresis

more commonly with functional constipation.
* Functional constipation can occur with toilet
training too early, child will toilet train on its own
when ready.
* Physical exam shows abdominal distension and poor
weight gain in Hirschsprung. Anal tone normal in
Hirschsprung and functional constipation. Rectal exam
likely no palpable stool in Hirschsprung. With
functional constipation, you will palpate hard stool
immediately in the rectal vault.
* Monometry can be done for functional constipation.
Biopsy can be done too but shouldnt need to get to
that point.

* Celiac disease causes bloating due to malabsorption
and diarrhea. Will have buttocks wasting due to FTT and
chronic diarrhea.
* Just vomiting in neonate think obstruction (volvulus,
* Infant differential for vomiting includes GE reflux,
food allergies, milk protein intolerance, overfeeding,
inborn errors of metabolism (galactosemia,
* Just vomiting in infants and up, think
gastroenteritis. Then systemic infections, toxic
ingestions, appendicitis, ulcers, pancreatitis.

* Newborn presents with bilious vomiting with every

feed. Abdominal film reveals a double bubble. Suspect
duodenal atresia. Associated with trisomy 21.
* Duodenal atresia presents early, usually first day of
life, no abdominal distension. Treatment is surgical.
* 4mo is admitted with episodes of apnea occurring 2030mins after feeds. The mother states the baby has been
spitting up since birth. She is at the 5th percentile
for weight. This is GE reflux. Most babies will spit up
a little bit, but the problem is when the baby is not
gaining weight.
* With GE reflux, lower esophageal sphincter pressure
is reduced or inappropriate relaxation of sphincter, or
hiatal hernia, or delayed gastric emptying which can
back things up.
* GE reflux occurs and then there is a reflexive
laryngospasm, causing apnea. Can aspirate (coughing,
* Patients with developmental delay and cerebral palsy
tend to have more reflux.
* Symptoms of GE reflux vary, can have spitting up,
forceful vomiting gushes out, apnea as presenting
sign, chronic cough and wheezing due to aspiration,
poor weight gain is significant.
* Sandifer syndrome is GE reflux with opisthotonus
positioning (spasmodic torsional dystonia). The back
arching is a reflex mechanism to relieve the pain and
prevent the reflux.
* Best way to diagnose GE reflux is a pH probe.

* Treatment is anti-reflux measures (sitting up when

feeding/sleeping), thickening the feeds, medications
(e.g. H2 blockers, prokinetics).
* pH probe is placed in distal 1/3 of the esophagus and
measures pH overnight, if pH drops too low for too long
then you have your diagnosis.
* Other studies for GE reflux include technetium milk
scan or barium swallows. Best is pH probe though.
* Anti-reflux measures include elevating the head of
the bed, adding cereal to feeds to thicken, antacids,
H2 receptor blockers, protein-pump inhibitors, prokinetics.
* If medical management fails, surgical measures
including Nissen fundoplication where a cuff is made
around the esophagus to help prevent reflux.
* Majority of patients will get better without
treatment as they get older.
* 4week old boy has non-bilious projectile vomiting.
Exam is remarkable for a small mass palpated in the
* Pyloric stenosis is a gastric outlet obstruction,
more common in males, more common in first born child,
tends to be genetic predisposition. If one child with
pyloric stenosis, 5% chance of another. If mother had
pyloric stenosis, 25% of her having a child with
pyloric stenosis.
* Symptom is non-bilious projectile vomiting, usually
around 3-4 weeks. Baby is hungry after vomiting.
Vomiting is very forceful, gushes, shoots, like a hose,
like exorcist.

* May palpate abdominal olive mass on exam. May

see/feel peristaltic wave on exam. May be jaundiced,
may have weight loss, may be dehydrated.
* Best test is abdominal ultrasound. Barium could be
done but has to be sucked out.
* Other lab findings include hypokalemic hypochloremic
metabolic alkalosis due to repeated vomiting.
* Pylorus will be elongated with a small outlet,
showing a string sign with mushroom cap or
umbrella as barium is squirted out into duodenum.
* Ultrasound will show thickened wall, donut sign.
Hole of donut is the opening, donut is muscular wall.
* Treatment is surgical. First, rehydrate, correct
electrolytes. Do pyloromyotomy and patient is eating
again 8h later.
* GI bleeding can be hematemesis (blood stained
vomitus, upper GI), melena (soft black tarry stools,
from any part of GI tract), hematochezia (bright red
stool, lower GI, could be upper). Children have a
quicker GI transit time and blood itself is a
cathartic, so bright red blood in the stool could be
from higher up, but generally is not.
* Upper GI < 1yo think gastritis, swallowed maternal
blood, peptic ulcer (duodenal and gastric),
malrotation, volvulus. Upper GI > 1yo, think peptic
ulcer, varices, gastritis.
* For swallowed maternal blood, best test is Apt test.
Apt test differentiates from fetal hemoglobin (belongs

to newborn) versus adult hemoglobin (swallowed maternal

blood). Swallowed blood could be from delivery or
during nursing if mother has cracked/bleeding nipple.
* Lower GI < 1yo think anal fissure (most common). Anal
fissure could be from irritation due to diarrhea or
hard stool that tore the wall. Other causes include
intussusception, necrotizing enterocolitis,
malrotation, volvulus.
* Lower GI > 1yo think peptic polyp, intussusception,
Meckel diverticulum, diarrhea, IBD, hemorrhoid.
* 13yo girl complains of chronic cramping abdominal
pain and diarrhea. She has noticed occasional blood in
her stools. She has had fever off and on for three
months and has complained of persistent right wrist
pain. CBC shows anemia and elevated sed rate (ESR).

Inflammatory Bowel Disease;
* Inflammatory bowel disease (IBD) includes Crohn's
and ulcerative colitis. Both are characterized by
exacerbations and remissions. Look for onset during
adolescence. More common in Jewish and Caucasians, runs
in families.
* Crohn's disease can have insidious onset and has more
extra-intestinal manifestations than ulcerative colitis
(UC). Can have fever of unknown origin, arthritis, skin

manifestations, weight loss from chronic disease and

malabsorption, cramping abdominal pain, diarrhea +/blood, perianal disease. Sed rate is usually elevated,
platelet count is usually high because it is an acute
phase reactant, abdominal films can show small bowel
obstruction, upper GI shows thicker folds and narrowing
of GI tract (string sign).
* Crohn's has skip lesions affecting one segment then
skipping to the next. May have fistula formation.
* Best test to diagnose Crohn's is colonoscopy
(endoscopy) and biopsy.
* Treatment is symptom relief including steroids,
aminosalicylates (sulfasalazine, 5-aminosalicylate),
chemotherapy (azathioprine), metronidazole for
fistulas, cyclosporine, tacrolimus immune suppression,
TNF-alpha, antibiotics can be used if you are unable to
tell if there is underlying infectious disease so treat
* Treatment for Crohn's can involve hyper-al
(hyperalimentation) if they are unable to gain weight
with PO feeding, helps rest the gut that is inflamed.
* Surgical management is reserved for failure of
medical management, fistula formation, intestinal
obstruction, and growth failure.
* Complications include remissions/exacerbations, GI
obstruction, malabsorption, anemia of chronic disease.
* Ulcerative colitis is limited to the colon, can be
insidious or fulminant. There is a mild, moderate,
severe form.
* UC associated bloody diarrhea and mucus, abdominal
pain, tenesmus (straining at stool).

* Mild to moderate UC is the most common manifestation,

about 6 stools/day, no fever, usually no anemia.
* Moderate disease will present with some anemia due to
blood loss in the stool.
* Severe fulminant disease can cause bad enough anemia
that they need transfusion. Can have high fevers,
leukocytosis, tachycardia.
* UC is a diagnosis of exclusion. Need symptoms for 3-4
weeks prior to entertaining the diagnosis of UC. Sed
rate is non-specific and not helpful.
* Best test to diagnose UC is colonoscopy (endoscopy)
and biopsy.
* Treatment is symptom relief including steroids,
aminosalicylates (sulfasalazine, 5-aminosalicylate).
* Surgical treatment of UC is for failure of medical
management. Surgery is total colectomy.

* 15mo child is seen for cramping, colicky abdominal
pain of 12h duration. He has had 2 episodes of vomiting
and fever. Exam is remarkable for a lethargic child.
Abdomen is tender to palpation. Leukocytosis is
present. During exam, the patient passes a bloody stool
with mucus.
* In intussusception, part of the intestine (the
intussusceptum) telescopes into the intussuscipiens,
the distal part. Usually it is ileocolic, but can
happen anywhere.

* Intussusception usually idiopathic. Peak age is 624mo. Not usually older than 4 years of age. There has
been some association with lymphoid hyperplasia
(mesenteric lymphadenitis), Meckel diverticulum,
lymphosarcoma, polyps, cystic fibrosis, HenochSchnlein purpura, preceding gastroenteritis.
* If surgery is done for intussusception, the entire
intestine should be scanned for lead points such as
* Rotavirus vaccine was originally associated with
intussusception. There was a high amount of monkey
serum in the oral vaccine, leading to mesenteric
lymphadenitis and then intussusception.
* History is acute onset of vomiting and colicky
abdominal pain (pain comes and goes). May develop
fever, lethargy, bloody stool with mucus (currant
jelly stool).
* Exam may show sausage shaped mass in abdomen, the
intussusception itself.
* Patient can come in shock, hypoperfusion,
tachycardia, hypotension.
* Best diagnostic test is barium enema, showing coil
spring sign. It is also therapeutic by hydrostatic
force, reducing the intussusception. If that does not
work or it recurs, then call the surgeon.
* DDx includes gastroenteritis, Meckel diverticulum
(painless bleeding), Henoch-Schnlein purpura.

Meckel's Diverticulum;

* 2yo boy presents with a one-week history of

painless rectal bleeding. Physical exam is normal,
rectal exam is unremarkable. Meckel diverticulum is the
most frequent congenital anomaly of the GI tract.
* Meckel diverticulum is a remnant of the
omphalomesenteric (vitelline) duct.
* Disease of 2s: 2% of infants, 2 years of age, 2 types
of tissue (ectopic gastric mucosa), 2cm of size, 2ft
from iliocecal valve.
* Presents as painless rectal bleeding, can cause
intussusception, can mimic appendicitis if inflamed.
* Best test for Meckel diverticulum is the technetium
Meckel scan. Technetium is taken up by gastric
tissue. Since this is ectopic gastric mucosa, it will
be taken up in the stomach and in the lower abdomen.
* Treatment is surgical removal.

Reye's Syndrome;
* 8yo is seen in the ED with persistent vomiting and
mental status changes. Exam shows he is combative and
has a seizure, becomes apneic and requires intubation.
Laboratory tests are remarkable for hypoglycemia and
elevated ammonia. The patient had recently recovered
from a viral URI.
* This is not commonly seen anymore because we avoid
aspirin in children who have viral infections. Another
reason the incidence has dropped is because we are
better at diagnosing other problems (e.g.

mitochondrial, liver diseases) that mimicked Reye

* Reye syndrome is an encephalopathy with fatty
degeneration of the liver. Look for history of recent
viral infection. May say the patient was recently
taking aspirin, but not as common these days.
* Typical scenario: child has viral illness, gets over
it, a week later starts having mental status changes
and vomiting.
* Stage I Reye syndrome is lethargy, vomiting,
* Stage II Reye syndrome is confusion, lethargy.
* Stage III Reye syndrome is decorticate positioning.
* Stage IV Reye syndrome is decerebrate positioning.
* Stage V Reye syndrome is flaccid, with apnea but
still reactive pupils.
* DDx includes encephalitis so lab testing would
include spinal tap, showing normal CSF.
* Lab tests tend to show elevated ammonia,
transaminases, CK, lactate dehydrogenase, plus
* Prothrombin time may be elevated. Liver biopsy shows
fatty infiltration.
* Treatment is supportive, maintain airway, treat
seizures, treat hypoglycemia.

Vesicoureteral Reflux;

* 2yo girl presents with urinary tract infection. She

has had multiple UTIs since birth but no follow-up
studies. Exam is remarkable for ill-appearing child who
has a temperature of 40C and is vomiting.
* Vesicoureteral reflux is abnormal backflow back up
toward the kidney. Can be caused by congenital
incompetence of the ureterovesicular (UV) junction, can
be familial, can be secondary to UTIs.
* UTIs more common in males during 1st year of life.
10x difference between circumcised and uncircumcised
males. Uncircumcised males have 1% incidence of UTI,
circumcised males have 0.1% incidence of UTIs.
* After first year of life, UTIs are much more common
in females then males.
* Incompetence of the UV junction means whenever you
void the bladder pressure causes backflow up to the
kidneys, even when it appears like you are urinating
* Vesicoureteral reflux is a cause of hypertension in
young children. Most of the time, hypertension in
children is caused by a kidney issue.
* Testing includes voiding cystourethrogram, kidney and
bladder ultrasound.
* Grade I reflux occurs without ureter dilatation.
* Grade II reflux is into the upper collecting system
without dilatation.
* Grade III reflux is into the upper collecting system
with dilatation of ureter and kidney.
* Grade IV reflux is grossly dilated ureter with reflux
into kidney.

* Grade V reflux is tortuous dilation of the ureter

with reflux into the kidney.
* Grade I-II usually gets better as the child gets
older, so prophylactic antibiotics are all that is
* Grade IV-V need surgical reimplantation of the
ureters to prevent reflux. Treatment is aimed to
prevent renal scaring and nephropathy associated with
vesicoureteral reflux.

Post-Streptococcal Glomerulonephritis;
* 10yo presents with cola-colored urine and edema of
his lower extremities. Exam shows BP 185/100, no
apparent distress, lungs clear, regular rate and rhythm
without murmurs/gallops/rubs. Medical history is
remarkable for a sore throat that was presumed viral by
his physician two weeks ago.
* How do you tell the difference between viral and
strep throat? Only with a culture.
* Treat strep throat to prevent peritonsillar abscess,
retropharyngeal abscess, glomerulonephritis, rheumatic
* Glomerulonephritis can occur 1-2 weeks after a
streptococcal infection of the throat or of the skin
(impetigo), with or without antibiotic treatment.
* Post-Streptococcal Glomerulonephritis Triad:
hematuria, edema, hypertension.

* Patients may complain of fever, malaise, abdominal

pain. May have anemia and decreased C3.
* Urinalysis will show RBC casts and may show protein.
* Need to demonstrate past infection with group A betahemolytic strep via DNAase antigens.
* Antinuclear antibodies may be done to rule out lupus.
Renal biopsy is usually not necessary.
* Best test if kid has hematuria, edema, hypertension
is DNAase looking for previous infection with strep.
* Treatment is antibiotics to prevent spreading of this
kidney-attacking strain, but this does not change the
disease process. Treat symptoms, decrease BP with
antihypertensives, watch fluids.
* 95% will have complete recovery. Some may develop
renal failure.
* DDx includes lupus, hemolytic uremic syndrome,

Alport's Syndrome;
* School nurse reports a boy because he failed his
hearing test at school. The men in this patients
family have a history of renal problems and a few of
the uncles are deft. A urinalysis shows microscopic
* Alport's syndrome is the most common type of
hereditary nephritis.
* Alport's is X-linked dominant (Moms uncles).

* Look for hematuria and proteinuria, even microscopic.

Hearing loss is the key. Cataracts can occur as well.
* Renal biopsy should be done, showing thickened
basement membrane. The membrane will then atrophy as
the disease gets worse and will contain foam cells.
* Treatment is supportive. They will develop end-stage
renal failure later and will need dialysis and
* Women tend to do better and have subclinical hearing
loss. For males look for hearing loss and/or cataracts.

Hemolytic Uremic Syndrome;
* 3yo child presents to the ED with a history of
bloody diarrhea and decreased urination. The mother
states that the symptoms began 5 days ago after the
family ate at a fast food restaurant. At that time the
patient developed fever, vomiting, abdominal pain, and
diarrhea (food poisoning). Exam shows ill-appearing
kid, pale, lethargic.
* Many things can cause hemolytic uremic syndrome
(HUS), not just E. coli O157:H7.
* E. coli is transmitted from undercooked hamburger
meat or unpasteurized milk. Hamburger should be cooked
medium-well to well. Steak has E. coli on the surface,
so when you put it on the grill it is hot enough to
kill the E. coli. With the steak it is only on the
surface. With hamburger, it is grinded all the way

* HUS can be associated with contaminated swimming

pools and apple cider.
* Associations will include kidney problems, clotting
problems, anemia.
* Child usually < 4yo, may be recovering from viral
gastroenteritis, maybe bloody diarrhea, maybe URI. One
week after symptoms getting better, patient has
oliguria, pale (anemia), weak, lethargic.
* Will see a dehydrated patient on physical exam, could
have hepatosplenomegaly. May have petechia because of
the coagulopathy.
* Tests to order are CBC, electrolytes, BUN,
creatinine, urinalysis.
* WBC may be elevated (leukocytosis), Hg low due to
anemia, platelets from 20-100,000 (thrombocytopenia).
Peripheral smear will show helmet cells and
schistocytes due to hemolysis or burr cells
(echinocytes). Coombs test will be negative. Urinalysis
shows hematuria, proteinuria, increased BUN and Cr.
* Treatment is symptomatic supportive, rehydrate, treat
renal failure. Patients survive with good intensive
* Complications include anemia, hypertension, acidosis,
heart failure, diabetes, seizures.
* DDx include thrombotic thrombocytopenic purpura (TTP,
usually young women with fever, decreased platelets,
and skin manifestation), lupus, malignant hypertension,
bilateral renal vein thrombosis.


Nephrotic Syndrome;
* 3yo presents to physician with chief complaint of
puffy eyes. Exam shows no erythema or evidence of
trauma, cellulitis, or conjunctival injection.
Examination show edematous face and feet with shiny
skin due to stretching (edema). The mother is concerned
because the childs underwear and socks leave marks in
the skin (edema).
* Nephrotic syndrome, like many of these other
syndromes, occurs after recovering from a viral
* Look for proteinuria, hypoalbuminemia, edema, and
* Nephrotic syndrome is classified as idiopathic (most
common, minimal change disease) and glomerulonephritis
(nephritic nephrotics).
* 85% of all nephrotic syndrome is minimal change
disease (aka nil disease, lipoid nephrosis).
* Minimal change disease is more common in males, more
common < 6yo.
* Increased glomerular capillary wall permeability,
causing a protein loss. This leads to lost oncotic
pressure and edema. Hyperlipidemia occurs because the
decreased protein stimulates protein synthesis and one
of the proteins you make is lipoprotein. Decreased
lipoprotein lipase due to decreased protein causes
hyperlipidemia, you are not breaking down the
* Patient can present with pitting edema or generalized

* Patient can be tired, have lost appetite, and

complain of abdominal pain. Usually no hypertension.
* Exam will show edema, dehydration (third spacing),
pleural effusion and ascites due to hypoproteinemia.
* Labs to orders are urinalysis (proteinuria,
hematuria) and blood (albumin, lipids).
* Biopsy is not needed but would show effacement of
podocyte foot processes under electron microscopy (EM).
* C3 will be normal. C3 is low in glomerulonephritis
but normal in nephrotic syndrome.
* Treatment is diuretics and salt restriction. May give
albumin. Steroids can help. Renal transplant is rarely
* Complications include infections particularly
spontaneous bacterial peritonitis (SBP) usually caused
by strep. Think about giving pneumococcal vaccine. Can
get arterial and venous thrombosis.
Urinary Tract Infections;
* 12d old infant presents with fever of 39C,
vomiting, and diarrhea. Exam shows ill child who is
mildly dehydrated. This could be a lot of things, like
sepsis (group B strep, listeria, E. coli), meningitis,
pneumonia, UTI.
* This kid would probably get a spinal tap, blood
culture, CBC, urine culture.
* Pyelonephritis involves the upper urinary tract.
Cystitis is an infection of the bladder. Asymptomatic

bacteriuria is a positive urine culture without

symptoms or renal injury.
* UTIs are most commonly caused by E. coli. Viruses can
sometimes cause infections, particularly cystitis.
* UTI more common in males as infants then as females
after 1yo.
* Infants with UTI may present with fever, weight loss,
FTT, vomiting, diarrhea.
* Older children may have fever, abdominal pain,
dysuria, increased frequency, enuresis.
* With pyelonephritis, patient looks sicker. Older
child will have flank pain, higher fever, chills.
* The best test to diagnose a UTI is a urine culture.
Dont think blood tests, urinalysis, nitrates,
leukocyte esterase.
* Treatment is antibiotics. Treat other symptoms like
* Repeat urine culture in a few days to a week posttreatment to see that you have sterilized the urine.
* Any boy at any time who gets a UTI requires a voiding
cystourethrogram and an ultrasound. You want to make
sure there are no posterior urethral valves or anatomic
* Any girls under the age of 5 with first time
documented UTI requires voiding cystourethrogram and
* Any girls over age 5, you can allow for one
infection. Do testing after second UTI. Now they are

responsible for their own hygiene, maybe not doing

things right, need to be taught proper hygiene.
* Once you get a UTI you are at higher risk for another
UTI. Generally get monthly urine culture for three
months, if negative then ever three months for a year,
if negative then annually.
* Children who show reflux, if mild, can be treated
with empiric antibiotics to see if they outgrow it.
* If reflux is severe (Grade IV-V) they need surgical
reimplantation of the ureters.

Juvenile Rheumatoid Arthritis (JRA);

* 7yo girl has been complaining of pain and swelling
of the left wrist and right knee, off and on for the
past three months. She has been previously healthy. The
pain is worse in the morning and improves throughout
the day. Physical exam is remarkable for swelling and
effusion of the right knee with decreased range of
* Significant points here are two large joints affected
and time-frame of three months.
* Juvenile rheumatoid arthritis (JRA) has nonsuppurative joint inflammation, effusions, destruction
of joint cartilage, bone deformities, chronic course,
morning stiffness that improves throughout the day.
* There is no specific etiology for JRA, but there are
specific triggers like Lyme disease at the third stage.
Triggers can be infectious or environmental as well.
* Polyarticular JRA implies many small joints.
Pauciarticular JRA implies fewer joints but large

joints (e.g. wrist, knee). Systemic JRA generally

involves a fever and rash occurring before the joint
* Polyarticular JRA can be further subclassified into
rheumatoid factor positive, usually older females with
nodules. There is also ANA-positive, also females but
younger onset. Seronegative polyarticular JRA occurs
* Pauciarticular JRA does not have to be symmetrical
distribution. Subdivided into ANA-positive, most common
form of JRA, more common in girls, higher risk for eye
involvement. RA-positive pauciarticular occurs, as well
as HLA-B27 positive pauciarticular more commonly seen
in boys, higher risk for ankylosing spondylitis.
Lastly, there is seronegative pauciarticular JRA.
* Child with fever of unknown origin for a few months,
gets a macular salmon-colored rash with the fever, then
starts to get joint involvement. This would be systemic
JRA, can have pleuritis, pericarditis,
* There is no single diagnosis test for JRA. Look for
onset less than 16yo, arthritis or 2+ of the following:
limited range of motion, tenderness/pain on motion,
increased heat in one or more joints, 6 weeks or more
* Polyarthritis occurs in 5 or more joints, else it is
called oligoarthritic. Systemic is arthritis with
fever. This is a diagnosis of exclusion, so rule out
other differentials.
* Sed rate is helpful but not diagnostic. C-reactive
protein is usually elevated during acute exacerbations.

* Can have anemia of chronic disease, leukocytosis,

thrombocytosis, x-rays show soft tissue swelling. Later
on you can see bone and joint changes.
* Treatment goal is to preserve joint function and try
to have a normal life.
* Non-steroidals are the first line of treatment, such
as ibuprofen or naproxen.
* Next step is methotrexate or anti-malarials.
* Steroids have very few indications in JRA. Useful in
* Physical therapy is very important to maintain joint
* Differential includes rheumatic fever, lupus,
ankylosing spondylitis, osteoarthritis, Lyme disease,
leukemia. Systemic Lupus Erythematosus (SLE)
* 10yo girl presents with fever, fatigue, and joint
pains. Physical exam is remarkable for a rash on the
cheeks, swelling of the right knee, and a pericardial
friction rub. She is anemic, has elevated blood urea
nitrogen, and an elevated creatinine.
* 9yo Haitian girl presents with a two-month history of
malaise and anorexia. Father has brought child to every
doctor he can find but the child still has no
diagnosis. She shows up with a hemoglobin of 5,
tachycardia, hypotensive, has decreased breath sounds,
and has a hypopigmented rash spread on several places
on the skin. Chest x-ray shows a large pleural
effusion. BUN and creatinine are elevated.
* Differential diagnosis includes lupus, TB, rheumatoid
arthritis, maybe sarcoidosis, malignancy, HIV.

* Pleural effusion is tapped and shows acid-fast

negative, non-malignant cells. PPD and HIV are
negative. ANA double stranded is positive. This patient
has lupus. * Lupus is an autoimmune inflammatory
disease affecting multiple systems.
* Etiology is unknown, probably multifactorial.
* Auto-antibodies exist, particularly to doublestranded DNA and other antigens.
* Sunlight can exacerbate lupus. Medications can cause
lupus, such as anticonvulsants, sulfa meds,
* Onset is usually after 8yo and is much more common in
* Lupus patients can presents with fever, malaise,
arthritis, arthralgia, skin manifestations (e.g. malar
* Pleural or pericardial rubs can occur, vasculitic
rash can occur, serositis, GI manifestations from
vasculitis, Libman-Sacks endocarditis, heart failure,
majority of children have renal involvement.
* CNS involvement can occur with seizures, stroke, or
aseptic meningitis.
* Vasculitis can occur similar to Raynaud phenomenon
(blanching of fingers, red and blue too).
* Mnemonic: MD SOAP N HAIR. Malar rash, Discoid rash,
Serositis, Oral ulcers, Arthritis, Photosensitivity,
Neurologic signs, Hematologic findings,
Anemia/leukopenia/thrombocytopenia, Antinuclear
antibody, Immunologic, Renal.

* Best initial screening test is ANA. Best test is

dsDNA (double-stranded DNA) but will only be positive
during active disease. C3, C4, CH50 (total hemolytic
complement) will be decreased during active disease.
Anti-Smith antibodies only found in SLE patients.
Nephritis is confirmed by biopsy.
* NSAIDs can be used but remember that they are
* Patients with thrombosis or anti-phospholipid
antibodies need to go on anti-coagulants.
* Steroids are the standard for treating lupus.
* 5-year survival is greater than 90%, children usually
die due to renal or CNS complications, or infections.
* Associated neonatal lupus with congenital heart
block. There is a transfer of antibodies and
manifestations usually resolve except for the
congenital heart block. Kawasaki Disease
* 18mo has had fever for 10 days and now has
conjunctival injection, a very red tongue, cracked
lips, a red hand, and truncal rash.
* Mucocutaneous lymph node syndrome (Kawasaki disease)
is a diagnosis of exclusion.
* Criteria include fever for 5+ days, changes in
peripheral extremities (red palms/soles and indurative
edema initially, membranous desquamation of fingertips
later), polymorphous exanthem, bilateral conjunctival
congestion, changes in lips and oral cavity (red lips,
strawberry tongue, diffuse injections of mucosa), acute
nonpurulent cervical lymphadenopathy > 1.5cm (least
common finding).

* Etiology is probably a viral agent, but unknown.

* Kawasaki disease is seen under the age of 5yo.
* Strep can cause finger peeling as well, but it
usually does not go into the wrist like Kawasaki
disease does.
* What is the next best step in management? Answer is
echocardiography. There is a high likelihood of
coronary artery vasculitis.
* Diagnosis is clinical; there is no test to diagnose
Kawasaki disease.
* Treatment is IV immune globulin. Can give aspirin to
help with fever and high platelet count.
* Complications include coronary artery aneurysms,
coronary artery thrombosis, myocardial infarction,
myopericarditis, congestive heart failure, uveitis,
hydrops of gallbladder, aseptic meningitis, sterile
pyuria (urethritis), thrombocytosis (late), peripheral
artery aneurysm, diarrhea, polyarticular arthritis
(early), pauciarticular arthritis (late). HenochSchnlein Purpura (HSP)
* 5yo boy is seen with maculopapular lesions on his
legs and buttocks. He complains of abdominal pain. He
has recently recovered from a viral upper respiratory
infection. CBC, coagulation studies, and electrolytes
are normal. Hematuria and microscopic hematuria is
present on urine analysis.
* Think of Henoch-Schonlein purpura when palpable
purpuric lesions occur after a viral infection or URI.
* Purpura can occur anywhere, classically they occur
from the waist down.

* Henoch-Schonlein purpura is an IgA-mediated

vasculitis of the small vessels.
* Occurs between 4-8yo and more common in boys.
* Can have edema, arthritis, GI symptoms including
colicky abdominal pain, can get intussusception, blood
in stool, renal manifestations in up to half of
patients (hematuria, proteinuria, renal failure),
* Most blood studies will come back normal.
* Treatment is supportive. Give steroids for GI or CNS

Diabetes Mellitus:
* 8yo boy is seen in the ED with vomiting and
abdominal pain of two days duration. His mother states
he has been drinking a lot of fluids for the past month
and reports weight loss during that time. Physical exam
reveals a low- grade fever and a moderately dehydrated
boy who appears acutely ill. He is somnolent but asks
for water. Respirations are rapid and deep (Kussmaul
respiration). Labs reveal metabolic acidosis and
* Diabetes mellitus results from a deficiency in
insulin. It could be a defect in action and/or straight
* There is abnormal carbohydrate metabolism as well as
protein and fat metabolism because of that. The cells
do not get glucose so they start to break down other
energy sources, such as fats leading to ketone body

* Type I diabetes is insulin-dependent, severe lack of

insulin, seen in children.
* Type II diabetes is insulin-resistant, can be seen in
older obese children and adults.
* Etiology is thought to be autoimmune, more common in
patients with other autoimmune diseases, can be postviral, association with certain HLA antigens. Can run
in families.
* Initial presentation in most children is diabetic
ketoacidosis (DKA). This is an acute presentation with
polyuria, polydipsia, +/- polyphagia, and weight loss.
* Up to 25% present with DKA, vomiting, abdominal pain,
moderate to severe dehydration, Kussmaul respirations,
lethargy, obtunded, thirst.
* DKA occurs when glucose is > 300 in blood, have
Ketonemia, and acidosis. Usually pH less than 7.3.
* DKA will come with ketonuria and glucosuria.
* Criteria is symptoms of diabetes, random blood sugar
> 200, or fasting blood sugar > 126, or 2hr glucose
tolerance test > 200.
* Treatment for diabetes mellitus type 1 is insulin,
diet, exercise.
* Treatment for DKA is fluids then insulin. Correct
dehydration first.
* Diabetes complications include retinopathy,
cataracts, nephropathy, neuropathy, most occurring in
Congenital Hypothyroidism;

* 2mo patient appears to be having inadequate weight

gain. His mother states he is constipated. On exam he
has decreased muscle tone, a large fontanelle, a large
tongue, and an umbilical hernia.
* Congenital hypothyroidism is due to thyroid hormone
deficiency; should be screened for.
* Congenital hypothyroidism occurs in 1:1000 births,
usually due to thyroid dysgenesis.
* Patients may have prolonged jaundice, poor feeding,
floppy/somnolent, large tongue, umbilical hernia,
mottled skin, constipation, developmental delay.
* The earlier you pick this up the better for
development as the treatment is simply replace thyroid
* A large posterior fontanelle is classic. The anterior
fontanelle will close at about 9-18mo of age. The
posterior fontanelle may be closed at birth but may
close at 4-6mo of age.
* Testing would show decreased T4, elevated TSH. Could
also do a thyroid scan.
Acquired Hypothyroidism;
* Thyroiditis is the most common cause of acquired
* Down, Turner, and Klinefelter's syndrome patient have
a higher risk of autoimmune thyroid disease.
* Radiation exposure and ingestion of iodides can lead
to acquired hypothyroidism.
* Growth deceleration is the first sign of acquired

* Patients can develop constipation, cold intolerance,

decreased energy. Usually schoolwork/grades do not
suffer. Osseous maturation will be delayed.
* Lymphocytic thyroiditis first signs are growth
retardation and goiter.
* Testing is via T4 and TSH, treatment is thyroid
hormone replacement. Hyperthyroidism
* 12yo girl has a six month history of hyperactivity
and declining school performance. Appetites is
increased but she shows no weight gain. Physical exam
shows a slight tremor of the fingers, mild
exophthalmos, and a neck mass.
* Hyperthyroidism is caused by too much thyroid hormone
and is almost always a result of Graves disease
(diffuse toxic goiter).
* Neonatal hyperthyroidism can occur when the mother
has Graves disease. Newborn will have high metabolism,
exophthalmos, poor weight gain, tachycardia.
* Symptoms of hyperthyroidism develop over 6-12 months,
can have emotional disturbances, hyperactivity,
emotional lability, declining grades, tremors (if fine
tremor, place sheet of paper over hands to see paper
vibrate), eat well but do not gain weight,
exophthalmos, sweating, flushing, palpitations,
* Thyroid storm is a severe presentation that can cause
death, not common in children.
* Diagnostic tests are T4, free T4, T3 and free T3 (all
elevated). TSH levels are low.

* Medical treatment is propylthiouracil (PTU) or

methimazole. Propranolol can reverse symptoms in
severely toxic patients. Surgery or radioablation are
reserved for failed medical management.
Congenital Adrenal Hyperplasia;
* 1mo infant is seen with vomiting and severe
dehydration. Physical exam reveals ambiguous genitalia.
Labs show hyponatremia.
* Most common cause of ambiguous genitalia is
congenital adrenal hyperplasia.
* Most common form of congenital adrenal hyperplasia is
21-hydroxylase deficiency.
* Congenital adrenal hyperplasia results from cortisol
deficiency which causes increased corticotropin
secretion and enlarged adrenal glands.
* This disorder is autosomal recessive.
* 11-beta and 3-beta are other forms, but 21hydroxylase is most common.
* 21-hydroxylase salt losing girls, virilization,
ambiguous genitalia, vomiting.
* 21-hydroxylase non-salt losing boys, premature sexual
development. Girls will have pseudohermaphroditism.
* Testing shows hyponatremia, hypochloremia,
hyperkalemia, and elevated BUN in salt-losing. Plasma
renin is high and aldosterone is low. 17-hydroxylase
level is elevated.
* Best test to determine sex of child is karyotype when
ambiguous genitalia is seen. Could do a buccal smear
and look for Barr bodies, but best test is karyotype.

* Urinary 17-ketosteroids will be elevated in 21hydroxylase deficiency.

* Prenatal diagnosis can be made by measuring
hydroxyprogesterone, androstenedione, cortisol in
amniotic fluid.
* Treatment is steroids. Glucocorticoids prevent
androgen production and subsequent virilization.
* When patient is ill, they need increased doses of
steroids as body cannot produce them and body under

Iron Deficiency Anemia:

* 18mo child of Mediterranean origin presents to the
physician for routine well-child care. The mother
states that the child is a picky eater and prefers milk
to solids. In fact, the mother states that the patient
who still drinks milk from a bottle consumes 64oz of
cows milk per day. The child appears pale. The
hemoglobin and hematocrit were measured and the Hg is
6.5, Hct is 20, MCV is low.
* Most likely diagnosis is iron deficiency anemia due
to excessive milk intake.
* In this age group, iron deficiency is most likely due
to poor intake of iron.
* Iron deficiency anemia is a microcytic hypochromic
anemia commonly seen under 2yo, after that point the
child can go out and get their own food.
* This is the most common hematologic disease of
infancy and childhood.

* Risk factors include low birth weight, inadequate

dietary intake particularly 9-24mo of age, and blood
loss (e.g. peptic ulcer disease, Meckel diverticulum,
polyps, hookworm, whole cows milk during infancy).
* Patient will typically be on a diet of milk and not
eating much else.
* Mild anemia usually presents without symptoms. More
severe anemia comes with lethargy, anorexia,
irritability, and easy fatigability. Can present in
high-output failure when Hg < 3 due to constant
* Patient can be pale, have tachycardia, and can hear a
murmur due to increased flow secondary to anemia.
* Can have spoon nails (koilonychias) and splenomegaly
on exam.
* Reticulocyte count is usually not elevated compared
to the degree of anemia.
* Treatment is iron supplementation.
* First test is CBC. Can have thrombocytosis. Then get
serum iron levels and ferritin levels (decreased). Iron
binding capacity and free erythrocyte protoporphyrin
will be increased. Reticulocyte count increased after
* Free erythrocyte protoporphyrin increases in iron
deficiency anemia and lead poisoning.
* Transfusions, if needed, should be done in small
amounts else it can damage the heart, which is not use
to a higher hemoglobin level. After transfusions bring
up Hg a little, finish with iron.

* Continue with iron supplementation for 4-5mo after

hemoglobin has been in a normal range.
* Need to teach parents about diet, do dietary
* Complications include learning problems,
developmental problems.
* Differential includes lead poisoning, thalassemia,
and anemia of chronic disease.
Hemolytic Anemia;
* 2yo boy presents to the physicians office for an
ear check. The child had an ear infection that was
treated with trimethoprim-sulfamethoxazole three weeks
earlier. On physical exam the patient is noted to be
extremely pale. Hg is 7 and Hct is 22.
* Be suspicious for hemolytic anemia because of prior
exposure to sulfa drug (G6PD here).
* Hemolytic anemia is due to decreased red blood cell
survival. This occurs with premature destruction caused
by intrinsic RBC abnormalities (e.g. spherocytosis,
* Hereditary spherocytosis is the most common inherited
hemolytic anemia, is autosomal dominant, and peripheral
smear shows spherocytes. These RBCs get chewed up
traveling through spleen and capillaries. Look for a
history of family members that have had gallbladders
removed or spleens removed or jaundice. May find
splenomegaly on exam. Can see gallstones.
* Spherocytosis treatment is folate therapy if mild.
More severe spherocytosis is eventually treated with
splenectomy after waiting as long as you can. After

splenectomy, patients are at higher risk for

encapsulated bacterial infections (e.g. pneumococcal
disease), patient should get vaccinations to cover
* Spherocytosis will have a negative Coombs. Test is
osmotic fragility test.
* G6PD is an enzyme problem leading to low enzyme
activity and hemolysis. Peripheral smear will show
blister cells and Heinz bodies, reticulocytosis. Can
check for enzyme activity.
* G6PD patients should avoid sulfa drugs, fava beans,
anti-malarials, moth balls.
Sickle Cell Anemia:
* 6mo African American infant presents to the
pediatrician with painful swollen hands and swollen
* Sickle cell disease is caused by a valine
substitution for glutamic acid at the 6th position of
the beta chain. Mnemonic is G6V (like G6PD), or G6 to
* This causes rigid crystals to form when oxygen levels
are low.
* Usually it takes about 2 months after birth for
things to start happening because fetal hemoglobin is
* After first month, start seeing hemolytic anemia and
can develop hand-foot-syndrome (dactylitis).
* Peripheral smear will show sickled-cells with Howell
Jolly bodies (due to auto-splenectomy).

* The crystals cause infarcts in the spleen, so in time

the spleen is destroyed. So patients will be higher
risk for infections with encapsulated organisms like
strep pneumoniae.
* Priapism can occur in males because sickled-cells get
stuck in penis.
* Vaso-occlusive episodes can repeat over time. Acute
chest syndrome can occur with pulmonary infarcts,
breathing problems, hypoxia due to shallow breaths (due
to pain) which causes more cells to sickle.
* Higher risk of infections. Can complain of chest
pain, abdominal pain, back pain. * Vaso-occlusive
episodes can cause ischemic damage, bone infarcts,
splenic infarcts, pulmonary infarcts, stroke, splenic
* Best test to diagnose sickle cell is hemoglobin
* Can do a peripheral smear and CBC, but best test is
* Patients can develop gallstones (due to hemolysis,
black stones). Immunize against pneumonia and H.
influenzae, prophylaxis with penicillin, folic acid
supplementation, aggressive in treatment with
* Painful episodes should be treated with analgesics
and proper hydration.
* Some patients need transfusions, give oxygen as well.
Some patients are on regular transfusion protocols.
Hydroxyurea may be used. Some patients may eventually
need bone marrow transplants.

* Complications include infections including

pneumococcus and salmonella (osteomyelitis).
* Leading cause of death is infections.
* 9yo has a greenish-brown complexion, maxillary
hyperplasia, discoloration under the eyes,
splenomegaly, and gallstones. Hemoglobin is 5. MCV is
* Thalassemia major (Cooleys anemia, homozygous B)
results from an imbalance of the alpha and betahemoglobin chains, too many alpha chains, ineffective
erythropoiesis, hemolysis, reduced oxygen carrying
capacity, ineffective iron absorption, red marrow
* Constant hemolysis causing anemia will stimulate the
bone marrow. Normally facial bone marrow is not a major
source of blood cells, but these patients will recruit
every bone they can.
* Patients also can have a hair-on-end or hair-brush
appearance on skull film, also seen in sickle cell kids
along with chipmunk facies.
* Patients usually become symptomatic at 6mo and up as
they lose fetal hemoglobin.
* Can be pale from anemia or more commonly greenishbrown, which is a jaundice from the hemolysis but not
typical pure yellow.
* Facial deformities occur from bone marrow expansion,
splenomegaly, heart failure secondary to high output.
* CBC shows Hg between 2-6.5, smear shows hypochromia
and microcytosis, develop hemosiderosis.

* Treat hemosiderosis with deferoxamine, a chelating

* Bizarre fragmented cells, unconjugated bilirubin
(indirect) is increased.
* Diagnosis is done by hemoglobin electrophoresis.
* Treatment is recurrent transfusions and chelation due
to iron overload from transfusions. Stem cell
transplantation is also an option.

Pure Red Blood Cell Anemia;

* 2wk old on routine physical exam is noted to have
pallor. No icterus is noted. Birth history is
uncomplicated and child has been doing well according
to the mom.
* Diamond-Blackfan syndrome should be suspected if a
newborn child is already anemic.
* Usually newborns have a hemoglobin around 18.
* Important to note here is the child is not yellow;
there is no hemolysis occurring. The child is pale
because they are not producing red blood cells.
* Diamond-Blackfan anemia is a pure red blood cell
anemia, probably genetic, child is pale in first few
* Child will be profoundly anemic between 2-6mo of age.
* CBC shows macrocytic anemia. Bone marrow aspirates
show erythropoietin but no bone marrow activity.
* Treatment is long term transfusion, steroids help.

* Patients will have iron overload because of all the

transfusions. Fanconi Anemia
* 2yo presents to the physician with aplastic anemia.
Exam shows microcephaly, micro-ophthalmia, absent radii
and thumbs. The patient has hearing loss on auditory
* CBC shows pancytopenia, all cell lines are not
working. Autosomal recessive. Complete bone marrow
* Fanconi anemia is an aplastic anemia with congenital
* Bone marrow aspiration will be hypocellular.
* Cytogenetic analysis can be performed to confirm
diagnosis. Prenatal diagnosis can be made too.
* Therapy includes transfusion, antibiotics (due to
lack of white cells), androgenic steroids, and
eventually bone marrow transplantation.
* At higher risk for AML.
Acquired Aplastic Anemia;
* Look for a preceding viral infection (e.g.
parvovirus Fifth disease) before patient shows up pale.
* Environmental causes of aplastic anemia include
ionizing radiation. Drugs include chemotherapy,
chloramphenicol, anticonvulsants. Infections include
parvovirus or mono.
* Half of patients with acquired aplastic anemia has no
* First sign of acquired aplastic anemia is hemorrhage
secondary to thrombocytopenia.

* Lab studies show decreased platelets, decreased red

cells, decreased white cells, scanty bone marrow.
* Diagnosis is confirmed with bone marrow after seeing
CBC pancytopenia.
* If environmental, remove from source. If bleeding,
transfuse. Treat symptoms and infections.
* Some patients will get bone marrow back, if not do
bone marrow transplantation.
* Most patients die from infections or bleeding.
Idiopathic Thrombocytopenia Purpura (ITP)
* 4yo child previously healthy presents with petechiae,
purpura, and excessive bleeding after falling from a
* Parents bring a 3yo to you with a rash (actually is
petechiae) and easy bruising. History reveals prior
viral infection a couple of weeks ago. Physical exam
reveals no other abnormalities.
* Petechiae will particularly show up where the child
wears underwear and socks due to pressure points.
* CBC shows normal hemoglobin, normal white count, low
* If you are going to treat an ITP patient with
steroids, you should get a bone marrow. Else may not be
needed. If the patient had leukemia and you started
steroids, then you mask the problem.
* ITP is the most common cause of thrombocytopenic
purpura of childhood. There is no apparent cause for
the platelet destruction, but it is immune mediated;
developing anti-platelet antibodies.

* 70% will have a previous viral infection.

* Usually 2-6 years of age, gender M:F is 1:1.
* Think ITP with bruising and petechial rash 1-4wk
after a viral infection. Patient looks great otherwise.
* Intracranial hemorrhage occurs in less than 1% of
patients, mortality rate is very low with ITP.
* Joint bleeding is very rare with ITP.
* Bone marrow will be normal or show increased
* The first test to order is a CBC, do not go to bone
marrow right away if you think ITP.
* Treatment is usually supportive, patients recover on
their own. IV Ig does help, steroids help. Get bone
marrow aspirate first before IV Ig or steroids. Usually
IV Ig give them a bump enough so they dont need
* Other causes of thrombocytopenia include WiskottAldrich (low IgM, recurrent infections, X-linked),
Kasabach- Merritt syndrome (cavernous hemangioma
trapping platelets, rare), also TAR or thrombocytopenia
absent radius syndrome.
* Petechia all over could be ITP (patient looks fine)
or could be leukemia with thrombocytopenia.
Hemophilia A;
* Hemophilia A (factor VIII deficiency), hemophilia B
(factor IX deficiency), and von Willebrands.
* Hemophilia A is most common, then von Willebrand's,
then hemophilia B.

* Newborn infant has prolonged bleeding after

circumcision. There is no family history of bleeding
* Hemophilia A is X-linked recessive. It accounts for
80% of all hemophiliacs. 1:5000 to 1:10,000 males will
be affected, usually a family history.
* Bleeding can be seen at anytime, typically after
circumcision or an IM injection. If you miss this in
newborn period, youll see it when the baby starts to
move around more.
* Hallmark of hemophilia A is spontaneous hemarthroses.
* 90% of patients will have increased bleeding by age
1, bruising with ambulation resulting in hemarthrosis.
* Diagnosis is via prenatal evaluation with family
history, prolonged bleeding after circumcision (could
be factor IX deficiency), so final diagnostic point is
with factor VIII activity levels.
* PTT is a nice screening test, but not fully
diagnostic. Must get factor VIII levels.
* Will also see normal platelet counts and normal von
Willebrand's factor.
* Treatment is replacement of factor VIII.
* Factor VIII is short-lived, so give only when they
need it meaning when theyre bleeding.
* DDAVP can help to increase factor VIII levels in some
* Tell patient to avoid contact sports, motorcycles,
horseback, etc. Avoid aspirin.

* Physical therapy is important to maintain range of

motion and function in painful hemarthrosis joints.
* Complications include developing inhibitors to
clotting factors (more common in hemophilia A).
Hemophilia B;
* 2yo presents to the pediatrician and is noted to
have excessive bruising on physical exam. The mother
says that the childs skin is very sensitive to
bruising. She notices the child gets epistaxis. There
is a family history of bleeding.
* You cant tell the difference between hemophiliacs,
which is why you order factor VIII, IX, von
* Factor IX is a vitamin K dependent factor (II, VIII,
IX, X, protein C and S).
* Hemophilia B is X-linked recessive.
* Exam is the same as hemophilia A.
* Treatment is replacement of factor IX.
Willebrand's Disease (vWD)


* Von Willebrand's disease is an underproduction of von

Willebrand's factor/protein. This factor causes
platelet adhesion, platelet-to-platelet aggregation,
and is a carrier for factor VIII.
* Patients will not have spontaneous bleeds into
* Present with nose bleeds. Most common cause of nose
bleed is trauma or picking nose.
* vWD is autosomal dominant so girls can get this.

* Presentation also includes bleeding from gums,

menorrhagia, prolonged bleeding from cuts, prolonged
bleeding after tooth extraction.
* Diagnosis is made by finding decreased vW factor.
* Treatment is fresh frozen plasma (FFP),
cryoprecipitate, or DDAVP.
* 5yo patient is brought to the physicians office with
chief complaint of limp. Exam shows low grade fever,
URI symptoms, hepatosplenomegaly, and petechia.
* 5yo with limp, think Legg-Perthes, osteomyelitis,
toxic synovitis, acute trauma. But do any of those give
hepatosplenomegaly or petechia? Now think leukemia,
there are other systemic signs.
* Leukemia is the most common childhood cancer.
* Acute lymphoblastic leukemia (ALL) is the most common
of the leukemias.
* ALL is characterized by lymphoblasts in the bone
marrow and in the peripheral smear.
* Other names are acute lymphocytic leukemia and acute
lymphoid leukemia.
* Acute implies short-term symptoms, such as 3-4 weeks.
* Peak incidence of ALL is 3-4yo and is more prevalent
in white children.
* Risks are Down syndrome, ataxia telangiectasia, von
Recklinghausen, and sideroblastic anemias.
* Twin of child with ALL is at higher risk of
developing ALL.

* Treatment (chemo, radiation) of one malignancy can

setup the patient for another malignancy. Example,
radiation therapy for Hodgkins can setup the patient
for a secondary malignancy.
* Parents or patient will complain of child having of a
non-specific viral illness then symptoms.
* Symptoms include anorexia, irritability, lethargy.
Some symptoms are related to anemia.
* Bone marrow failure leads to pallor, bleeding, and
fever. Thrombocytopenia can cause petechia everywhere.
* Huge node in armpit is not a lymph node, it is a
leukemic infiltrate.
* Bruising around eyes and subconjunctival hemorrhages
may look like child abuse, but it is due to
thrombocytopenia. Signs are secondary to bone marrow
* Child may have lymphadenopathy and
* Up to 1/4 of children will complain of bone pain.
* First test for this patient with pallor and petechia
is a CBC (with peripheral smear).
* CBC may show a low, normal, or elevated white count.
Peripheral smear will show blasts.
* CBC may show anemia and thrombocytopenia. Important
portion is smear showing blast cells.
* Best test to diagnose ALL is bone marrow aspirate and
* Bone marrow will show lymphoblasts.

* X-ray should be obtained to look for a mediastinal

* Always do a lumbar puncture to check CSF for
malignant cells. CNS is a common place for the leukemia
to go. As part of therapy, give intrathecal
chemotherapy and do surveillance lumbar punctures.
* No real staging for leukemia because by definition it
has already spread (it is in the blood stream).
* Therapy begins with induction of remission:
vincristine, prednisone, L-asparaginase. Protocols
differ depending on if it is null cell, or Kell antigen
positive, presenting counts, patients age, and so on.
* CNS prophylaxis is intrathecal methotrexate. CNS
radiation affects growth and can cause secondary
* Treatment in summary involves chemotherapy (e.g.
vincristine) and intrathecal methotrexate.
* After remission, go into consolidation and
medications depend on presentation of patient. Then go
on maintenance therapy and supportive therapy.
* Goal is to wipe out bone marrow with chemotherapy and
hopefully good cells come back. So there will be a
pancytopenia, thus transfusions are needed, watch for
bleeding (replace blood products), watch for
* Bone marrow is most common site of relapse. Relapse
also occurs in the CNS and in the testes in males.
* Prognosis is least favorable if < 2yo or > 10yo.
* Prognosis is poor with white counts > 100,000.

* Cure rate for children is close to 90%.

* 5yo patient is brought to the physicians office with
chief complaint of limp. Exam shows low grade fever,
URI symptoms, hepatosplenomegaly, and petechia. CBC
shows WBC count of 75,000 with 96% blasts. Bone marrow
aspiration confirms diagnosis of ALL. Chemotherapy is
initiated. What should we be worried about?
* Tumor lysis syndrome occurs in any big mass that is
* Tumor lysis syndrome can occur before chemotherapy
but more so after chemotherapy. You lyse lots of cells
and they release toxic agents, leading to renal
problems, acid-base imbalances, uric acid problems.
* Hyperuricemia can occur, so hydrate patient and
alkalize urine. Can give allopurinol to reduce
production of uric acid. Hyperkalemia and
hyperphosphatemia can occur so follow electrolytes.
Hyperphosphatemia can lead to hypocalcemia.
* Differential includes aplastic anemia, mononucleosis
(fatigue, pallor, anorexia, atypical lymphocytes),
rheumatoid arthritis (joint pain, fever, anemia), other
malignant tumors (pancytopenia), pertussis (high white
counts). Lymphoma (Hodgkin)
* 16yo boy presents with complaints of weight loss,
fever, and night sweats. On physical exam he is noted
to have a non-tender cervical lymph node that is 4x5cm.
* Lymphoma is divided into Hodgkin and non-Hodgkin.
* Hodgkin is responsible for 5% of lymphoma in children
and adolescents. There is a bi-modal peak from 15-30yo
and another at 50yo and up. Seen in older children and
adolescence. May have a pre-existing immunodeficiency

but majority of cases are spontaneous. May be a

relationship with Epstein-Barr virus.
* Reed-Sternberg cell is the histologic feature of
Hodgkin lymphoma.
* Four types of histology: lymphocyte predominant,
nodular sclerosing, mixed, lymphocytic depleted.
* Lymphocyte predominant has best prognosis, lymphocyte
depleted has worse prognosis.
* Look for localized adenopathy. Acute adenopathy is
usually an infectious cause, but if it persists think
* Lymph node is the most common presenting symptom.
* There may be a mediastinal mass so every patient
needs a chest x-ray.
* Presentation varies with the extent of the disease.
Classic is night sweats, fever, weight loss.
* Physical exam will show a firm, non-tender, enlarged
cervical or supraclavicular node. We find lymph nodes
in children in the head/neck region often, but if you
find supraclavicular or axillary nodes you should be
very concerned (unless there is a history of cat
scratch for the axillary node).
* Excisional biopsy of lymph node is how a diagnosis is
obtained. Do a chest x-ray looking for mediastinal
masses. May be followed up with a CT scan.
* Order CBC to look for anemia and thrombocytopenia,
sed rate, serum ferritin, serum copper, chest x-ray,
chest and abdominal CT if needed, and gallium scan to
look for metastasis. Bone marrow aspiration is

* Stage I is single lymph node or single extralymphatic organ.

* Stage II is 2 or more lymph nodes on the same side of
the diaphragm.
* Stage III is nodes on both sides of the diaphragm.
Stage IV is disseminated lymphoma.
* Systemic symptoms (B symptoms) are fevers, night
sweats, weight loss.
* Treatment involves chemotherapy and radiation
* Prognosis is very good for patients with early
Hodgkin disease.
Lymphoma (Non-Hodgkin);
* 6yo boy presents to his primary care provider with a
non-productive cough. The physician makes a diagnosis
of an upper respiratory infection. However the
patients symptoms persist and her returns to the
physician. At this time, the patient is wheezing and
the provider makes the diagnosis of reactive airway
disease and prescribes a beta2 agonist. The medication
does not improve the condition and the patient returns
for a third visit. The patient is now complaining of
cough and has a low-grade fever. The patient is
diagnosed with clinical pneumonia and started on an
antibiotic. Two days later, the patient presents in
respiratory distress. CXR shows a large mediastinal
* Non-Hodgkin found in younger children. This is not an
uncommon presentation. * Non-Hodgkin is characterized
by proliferation of immature lymphoid cells that
accumulate outside bone marrow.

* Risk factors are pre-existing immunodeficiency.

* Non-Hodgkin in children differ from adults in that
they are extra-nodal and are as likely to be T-cell as
they are B- cell lymphomas.
* Types are lymphoblastic, large cell, and small noncleaved cell lymphoma.
* Presentation depends on where the primary is (e.g.
* Most common presentation of a lymphoblastic lymphoma
is an anterior mediastinal mass. Sometimes they have
pleural effusions. The mass causes respiratory distress
because of compromise of the airway, can cause a
superior vena cava syndrome (patient plethoric from
nipple line up, Pemberton sign). CNS can be involved.
* Non-cleaved cell lymphoma is usually an abdominal
mass, can cause pain, ascites and urinary tract
* Large cell lymphomas occur in the abdomen or
mediastinum, skin, bone, soft tissue.
* Physical exam depends on location of lymphoma. You
may not get much on exam other than cough.
* Non-Hodgkin is very aggressive so diagnosis is needed
early with staging and treatment.
* Labs to order are CBC, electrolytes, uric acid, LDH,
creatinine, Ca++, phosphorus. These patients are at
high risk for tumor lysis syndrome once treatment is
* Order CXR, chest CT, abdominal and pelvic ultrasound
or CT scan. Do bone marrow aspirate.

* Stage I is single extra-nodal tumor.

* Stage II is single tumor in 2 or more nodal areas on
the same side of the diaphragm.
* Stage III is opposite sides of the diaphragm. Stage
IV is CNS or bone marrow involvement.
* Treatment includes surgical removal of as much
lymphoma as possible. Chemotherapy for all patients.
Radiation therapy may be used for large tumors. If
tumor is causing airway obstruction, radiate first to
shrink prior to removal.
* Complications include dissemination to bone marrow
and meninges. Prognosis is good for stages I and II.
Brain Tumors (Infra Tentorial);
* Brain tumors are the most common solid tumors of
* 2/3 of brain tumors in children are posterior fossa
(infratentorial). Symptoms depend on location.
* Intra-tentorial tumors include cerebellar
astrocytoma, medulloblastoma, brainstem gliomas, and
* Children < 2yo and adolescents tend to have more
supratentorial tumors.
* Supra-tentorial tumors include craniopharyngioma,
optic glioma, and astrocytoma.
* Study of choice is MRI for any brain tumor.
* Not all brain tumors are malignant, but the problem
is you have to go through normal structures (e.g.
brain) to get to them or where they are compressing; so
some morbidity associated with surgery.

* Blood brain barrier affects ability to provide

effective chemotherapy.
* Posterior fossa tumors classically present with
headache relieved by vomiting in the morning. What
happens is the tumor is not large enough to cause
symptoms but when the child lays down the tumor plops
in and blocks the CSF flow. ICP increases, child wakes
up in the morning, vomits, tumor moves because child is
sitting up, flow starts. Eventually the tumor blocks
CSF flow all the time and you get persistent headaches
and vomiting (without nausea).
* 10yo child presents to the physician because of a new
onset seizure. The patient has a one month history of
severe headaches and a progressively worsening widebased gait.
* Wide spaced gait is typical of a posterior fossa
* Papilledema can be seen on retinal exam due to
increased ICP, but this is a late sign.
* Astrocytomas are posterior fossa tumors, usually
cystic. Types are pinocytic (more common) and diffuse.
* Cerebellar astrocytoma is the most common posterior
fossa tumor of children. Prognosis is generally good.
* Cerebellar astrocytoma can be in the midline causing
headache and vomiting, or in a hemisphere which usually
causes seizures. May cause hydrocephalus due to
obstructed flow.
* Cerebellar astrocytoma usually 5-10yo, parents may
complain of personality changes.
* Test of choice is MRI.

* Treatment of choice is surgical resection, but that

depends on location.
* 6yo presents to the pediatrician because of headache
and persistent emesis for the past week that is not
associated with fever, abdominal pain, or nausea.
* You cant go by symptoms and call this
medulloblastoma. You can diagnose a brain tumor via MRI
then get the type of tumor via the pathologist.
* Medulloblastoma (primitive neural ectodermal tumor,
PNET) is the second most common posterior fossa tumor.
It arises from the roof of the 4th ventricle, grows
rapidly, and fills the 4th ventricle giving signs of
increased ICP.
* 3wk old infant is brought to the ED because of
persistent vomiting and lethargy. Physical exam reveals
a bulging fontanelle which is large and split sutures.
Order a CT scan or MRI before you do a lumbar puncture.
MRI shows mass, hydrocephalus, pathology shows PNET.
* Medulloblastomas can metastasize to extracranial
sites. Most prevalent < 7yo, more common in boys.
* Patients can have onset of headache, neurologic
impairment, seizures, hydrocephalus, ataxia sometimes.
* Test of choice is MRI.
* Treatment is surgical resection. If hydrocephalus
persists, you need a shunt. Radiation and chemotherapy
* Follow-up with serial MRIs to make sure nothing is
growing back. * Prognosis depends on age at
presentation and if the tumor has disseminated. * Poor
prognosis is with < 4yo.

* 9yo is brought to the physician by her parents

because of personality changes. The parents state that
over the past month the child has become very
aggressive; arguing, hitting, biting other children.
Her grades have dropped from straight As to failing.
This is quite out of character for their intelligent,
outgoing, friendly daughter.
* Brainstem gliomas are posterior fossa tumors, the
third most common of the group.
* Brainstem gliomas can extend through the brainstem.
Anaplastic astrocytoma has a poor prognosis. Midbrain
and medullar astrocytomas have a better prognosis with
surgery alone.
* With brainstem gliomas, look for changes in
* Always pay attention to a child that complains of
double vision. Be suspicious of a brain lesion.
* Brainstem gliomas can have speech and gait
disturbances, papilledema is a late finding.
* Test of choice is MRI.
* Treatment is difficult with surgery due to location.
Limited radiation therapy or chemotherapy are used.
* 5yo presents to the Emergency Department because of
neck stiffness and torticollis for the past three days.
They also have vomiting, headache, and papilledema.
* Ependymomas can be supra- or infra-tentorial. Fourth
ventricle is the most common location.
* Presentation is of obstructive hydrocephalus.

* Treatment is surgery (rarely get entire tumor out)

then radiation and chemotherapy.
Brain Tumors (Supra Tentorial);
* 14yo girl presents to a physician because of shortstature. Physical exam reveals bitemporal visual field
deficits. Head CT shows calcification of the sella
* Any girl with short stature should be evaluated for
Turner syndrome.
* Once you have bitemporal hemianopsia, go for the
head CT.
* Craniopharyngioma is the most common supra-tentorial
tumor, may see enlarged sella turcica on skull films.
* Patient can present with short stature, peripheral
vision loss, hydrocephalus, papilledema.
* Test of choice is MRI.
* Treatment is surgical removal then replace hormones
because you removed the pituitary.
* 4yo with neurofibromatosis presents to the
ophthalmologist with complains of decreased visual
acuity according to the parents. Exam shows proptosis
and papilledema.
* Optic gliomas are low-grade astrocytomas, can affect
vision. Take double vision seriously in children.
* Risk factors include neurofibromatosis (von
* Chiasmatic tumor can lead to asymmetric nystagmus.

* Treatment is delayed until tumor progresses, then

treat depending on radiographic findings and visual
changes. Either no treatment if normal vision,
chemotherapy with tumor extending into optic canal, and
chemotherapy with visual changes but tumor not
extending into optic canal.
* Mother brings her 3yo child to the physician because
she found an abdominal mass while bathing the child.
The child has been in her usual state of good health
according to the mother. Review of vital signs reveals
an elevated blood pressure. This is Wilm's tumor
* Hemi-hypertrophy with aniridia are seen in Wilm's
tumor. Majority just present with an abdominal mass.
* Since nephroblastoma is in the kidney, it will
distort the renal outline on radiographic exam.
* Wilm's tumor is the most common abdominal neoplasm in
children. Associated with congenital anomalies of the
genitourinary tract, associated with hemi-hypertrophy
and aniridia.
* Wilm's seen around 3yo, can be an asymptomatic
abdominal mass. May complain of abdominal pain and
* Up to 60% will have hypertension.
* UA can show hematuria.
* Test of choice is abdominal CT scan. Always look for
* Stage I is in a single kidney with intact capsule.
Stage II is with an involved capsule.

* Stage III is ruptured capsule without spread. Stage

IV is metastasis.
* Stage V is bilateral kidney involvement, very poor
* Treatment is to remove the tumor. If anything left,
radiation and chemotherapy.
* Majority of patients do well with tumor removal.
Prognosis is poor if tumor returns after surgery.
* Differential includes neuroblastoma, which can occur
in the abdomen. Neuroblastoma would most likely be on
the adrenals, pushing kidney downward but not affecting
* 2yo is brought to the physician because of bluish
skin nodules, periorbital proptosis, and periorbital
ecchymosis that has developed over the past few days.
Exam reveals a large smooth abdominal mass.
* Neuroblastoma arises from neural crest cells so it
can occur anywhere along that development line (e.g.
neck, abdomen, chest). They represent 8% of all
childhood tumors. Most common solid malignancy outside
the CNS.
* 70% are in the abdomen and half of those are in the
* Testing should include catecholamines in the urine
because the tumor is in the adrenals.
* May be hematogenous spread to the liver. Can present
with abdominal mass. Hypertension can occur due to
catecholamine release from adrenals.
* Thoracic tumors will cause respiratory symptoms, like
persistent coughing, abnormal CXR.

* Head and neck tumors may be palpated or come with

Horner syndrome.
* Other symptoms include back pain, limping, lower
extremity weakness depending on location.
* Periorbital hemorrhaging can occur.
* CT scan of the abdomen will show an extra-renal mass.
* Order urinary catecholamines, vanilla mandelic acid
(VMA) and homovanillic acid (HVA).
* Biopsy tumor to determine pathology.
* Stage I is located at site of origin.
* Stage II is divided into A and B, extends beyond site
of origin without ipsilateral node involvement.
* Stage III crosses the midline. Stage IV is distant
metastasis (goes to bone and brain).
* Stage IV-S is small primary tumors in infants less
than a year.
* Children < 1yo with neuroblastoma can have
spontaneous regression. Some think it may be a
different disease.
* Treatment is surgical removal for stage I and II,
then chemotherapy.
Rhabdomyosarcoma Botryoides;
* A mother brings her 3yo daughter to the physician
because the girl has grapes growing out of her
* Rhabdomyosarcoma is the most common soft tissue tumor
in children. It is a round-cell tumor, seems to come

from the striated muscle. There is different subtypes,

embryonic, botryoides (grape-like).
* Most common presenting sign of rhabdomyosarcoma is a
mass, which affects symptoms. If the mass is in the
nose, they may have congestion, mouth breathing,
epistaxis. Face or cheek location can cause paralysis,
swelling, pain. Trunk can look like a hematoma.
Genitourinary tract can cause hematuria or obstruction
to urine. Females can have botryoides tumor coming out
of vagina.
* Diagnostic test depends on location. Head and neck
should get a head/neck CT. Abdominal and pelvic tumors
should get a CT of the abdomen. Bladder tumors should
get a cystogram for help.
* Order a bone marrow for these patients to see the
extent of disease.
* Treatment is surgical removal, but can be hard to
fully remove. Chemotherapy and radiation may be
* Differential includes other round cell tumors such as
neurosarcoma, non-Hodgkin, Ewing sarcoma.

* The pediatrician is called to the delivery room
because an infant is born with a defect in the
lumbosacral area.
* Spina bifida is a spectrum of disease, also called
spinal dysraphisms.
* Spina bifida occulta is a defect in the vertebral
arch. Usually highlighted by a dimple or tuft of hair

on the lower back. It is the mildest form and is not

very bothersome.
* Meningocele is where the meninges herniates through
the defect making a sac.
* Myelomeningocele is where both the meninges and the
spinal cord herniates through the defect.
* Risk factors include some drugs, malnutrition
(specifically folic acid), radiation.
* Majority of patients will have defect in lumbosacral
region. Usually have bowel and bladder incontinence.
* Physical exam for myelomeningocele usually shows
flaccid paralysis of lower extremities, absent deep
tendon reflexes, absence of response to touch and pain
which can lead to trouble.
* 15yo girl is admitted with myelomeningocele is
admitted to the hospital with burns on her feet. She
was taking a bath, stepped in, and didnt realize that
the water was extremely hot.
* Sometimes patients will have club foot or dislocated
hips. Risk of burns, injury, pressure sores.
* Majority of patients, if they are not born with it,
will develop hydrocephalus.
* Assume all spina bifida patients have latex allergies
because they have multiple surgeries and may have to
catheterize themselves on a regular basis due to
urinary incontinence.
* Diagnostic studies include alpha fetoprotein
(elevated). aFP is down in Downs.

* Prenatal vitamins with folic acid will decrease risk

of spina bifida.
* Treatment begins with repair of defect and treat
hydrocephalus. Aggressively treat UTIs.
Febrile Seizure;
* 18mo child is brought to the ED after having a
generalized tonic-clonic seizure that lasted
approximately 5 minutes. The parents say the child had
been previously well but developed cold symptoms
earlier today with a temperature of 39C. This is most
likely a febrile seizure.
* Febrile seizure is the most common seizure disorder
in children, occurring in about 3-4% of children.
* Typically seen between 9mo and 5yo.
* Risk factors include rapid rise of temperature (no
specific temperature number/level).
* Risk of developing epilepsy in patients with multiple
febrile seizures is 9% if there is also a family
history of febrile seizures, a family history of
seizures, an initial febrile seizure < 9mo, or a
prolonged atypical seizure, or an abnormal neurological
exam afterwards.
* Otherwise, child with febrile seizure has about a 1%
chance of developing a true seizure disorder.
* Febrile seizure occurs with a rapid increase in
temperature and is a generalized tonic-clonic lasting
* Anything outside that is an atypical febrile seizure,
such as multiple febrile seizures in a single day.

* With febrile seizures (via good history, no focal

deficits), an EEG is not needed.
* Treatment for febrile seizure is antipyretics. Treat
causative if something like otitis media. Rule out
* Treatment should not include anticonvulsants because
the seizure is caused by the fever.
* If seizures continue, then you can use first-line
anticonvulsants like lorazepam or diazepam.
* They may have recurrent febrile seizures a few months
later, generally they outgrown the condition.
Infantile Spasms
* 6mo infant is noted to have brief symmetric
contractions more than 100x per day of the head, neck,
and extremities onto the trunk.
* Many times these seizures look like the Moro reflex
(startle response).
* Infantile spasms are brief symmetric spasms of the
neck, trunk, and extremities usually beginning around
* Etiology is unknown but may have to do with
corticotropin releasing hormone. * Usually occurs on
sleep or initial arousal, but can occur all day long.
* Three types are flexor spasms, extensor spasms, and
* Characteristic EEG is hypsarrhythmia (means high and
lofty waves).
* Treatment is adrenocorticotropin hormone (ACTH)
initially then prednisone.

* Problems associated include tuberous sclerosis,

inborn errors of metabolism, congenital infections,
Absence Seizures;
* 8yo child is referred to a pediatrician by a school
nurse with reports of spacing out in class. During
provoked hyperventilation in the office, the patient
has a similar episode.
* Petit mal (absence) seizures are characterized by a
sudden cessation of motor activity with a blank stare.
* Uncommon under the age of 5yo, predominant in girls.
* Seizures usually last 30 seconds, no aura, blank
facial expression, no post-ictal state.
* Typical EEG is three-per-second spike and wave.
* Treatment of choice is ethosuximide.
Generalized Seizures;
* Generalized tonic-clonic seizure can follow a
partial seizure.
* Generalized seizures are associated with auras.
Usually patients will be post-ictal for 30mins to 2hrs.
* Pseudo-seizures are typically more thrashing about,
patient may talk to you during episode.
* Pseudo-seizures can occur with or without a true
seizure disorder. EEG will be normal.
* Myoclonic epilepsy consists of brief contractions and
loss of body tone, tend to fall/slump forward.
* Benign myoclonus of infancy is when the baby jerks as
it is falling asleep. This goes away by 2yo, no issues.

Partial Seizures;
* Types are simple partial seizures, complex partial
seizures, and benign focal seizures.
* Simple partial seizures are about 10-20 seconds in
duration. Can be confused with motor tics but cannot be
suppressed like a motor tic.
* Complex partial seizures are associated with auras.
* EEG in complex partial seizure shows temporal spikes.
* Benign focal (rolandic) seizures can be associated
with hallucinations (e.g auditory). Resolve by
Cerebral Palsy (CP);
* Cerebral palsy is a disorder of impaired motor
functioning and posture.
* Onset is early, before birth, at birth, or during
first year of life. This is a non-progressive disorder.
* Majority of patients have rigidity and spasticity.
Subtle finding could be a heal-cord contracture with
raised foot.
* 1.5-5 per 1000 live births is the incidence of
cerebral palsy. No specific etiology. * Risk factors
are intrauterine bleeding, infections, congenital
malformations, intracranial hemorrhages, neonatal
hypoglycemia, kernicterus, birth asphyxia (low APGAR is
an uncommon cause).
* CP characterized by the motor deficits, such as
spastic diplegia, spastic quadriplegia, spastic
hemiplegia, etc.

* Most forms of CP are hypertonic, but extrapyramidal

form is characterized by hypotonia.
* Patients may have hypertonicity and spasticity such
that they cannot control their own secretions. They
cannot coordinate the motor movements, so higher risk
of aspiration and GE reflux.
* No diagnostic test. Diagnosis is clinical.
* Goal of therapy is to help patients achieve maximum
potential. Patients may have seizure disorders, mental
retardation, and developmental delay. However, patients
may be mistakenly thought to be mentally retarded
because they have speech problems due to the rigidity;
there are people in college with cerebral palsy.
* Treatment can involve muscle relaxants, physical
therapy, anticholinergics to dry secretions, seizure
treatments, orthotics or bracing to prevent
contractions, tendon cord releases, heal cord release
surgery, club foot surgery.
Progressive Mental Retardation;
* In CP, the insult has already occurred and thus it
is a non-progressive disorder.
* Types of progressive are acquired and inherited
* Acquired includes meningitis, very frequent seizures
with hypoxia, chronic drug overdose, lead poisoning,
vitamin deficiencies, infections, psychosocial
* Hereditary includes degenerative diseases with focal
manifestations such as Friedreich Ataxia.

* Friedreich Ataxia is an alpha tocopherol transfer

protein defect, vitamin E deficiency, autosomal
recessive, generally ataxia presents before 10yo,
characterized by explosive dysarthric speech and
* Friedreich Ataxia exam may show ataxia, absent deep
tendon reflexes, lower extremities more involved, loss
of vibration and position sense, high arched food (pes
cavus), hammer toes, kyphoscoliosis.
* Diagnosis is made clinically. There is no treatment.
* Lesch-Nyhan is associated with self mutilation,
biting at their lips and fingers. X-linked disorder of
purine metabolism, accumulate uric acid.
* Lesch-Nyhan kids will be alright at birth then have a
delay in motor development. Can have choreoathetosis
movements, spasticity, psychomotor retardation, gouty
arthritis due to uric acid. Gout is really the only
thing you can treat so give these patients allopurinol.
* Diagnosis made with dystonia and self-mutilation.
Definitive diagnosis is analyzing for hypoxanthineguanine phosphoribosyltransferase (HGPRT).
* Treatment is allopurinol for renal complications,
behavior modification (good luck), restraints, possibly
remove the teeth to prevent recurrent mutilation, try
to reduce anxiety and stabilize mood.
* Wilson disease (hepatolenticular degeneration) is a
copper metabolism problem, Keyser-Fleisher rings in the
eyes, autosomal recessive, basal ganglia degeneration,
increased copper deposits in brain, liver, kidney,
cornea, and low serum copper. Family history likely

* Wilson disease usually has liver problems first

before the brain. Patients may have tremors, drooling,
fixed smile. Children will present with liver
dysfunction and hepatomegaly. Look for Keyser-Fleisher
* Testing involves ceruloplasmin levels and finding low
serum copper, then finding increased urine copper after
penicillamine is given.
* Imaging is CT of the brain and/or MRI of the brain. *
Treatment is to reduce copper intake and increase
secretion of copper by giving penicillamine
* Fulminant liver involvement can progress to
cirrhosis, may need liver transplant.
* Metachromatic leukodystrophy (MLD) is autosomal
recessive, deficiency in arylsulfatase A activity, can
assay via chorionic villus sampling to look for
arylsulfatase A deficiency pre-natal.
* MLD test is metachromatic staining found on cresyl
* MLD types are late infantile, juvenile, and adult.
Late infantile type has gait disturbance and hypotonia.
Juvenile usually at 5-10yo, personality changes, doing
worse in school.
* Krabbe's disease (globoid cell leukodystrophy) is a
disorder of myelin destruction, autosomal recessive,
deficiency in galactocerebrosidase, symptoms appear
early in first few months of life.
* Krabbe's disease kids are very irritable (crabby),
inconsolable, feeding issues, seizures, opisthotonus

* Adrenal leukodystrophy is x-linked recessive,

symptoms at 5-15yo, worsening school performance,
behavior problems, gait abnormalities.
* Mucopolysaccharidosis (Hunter, Hurler, San Filippo),
Hurler and San Filippo are autosomal recessive. Hunter
is X-linked recessive. Look for coarse facies,
upturned/anteverted nose, generous eyebrows, short
broad neck, umbilical hernia, visceromegaly, short
stubby fingers, short stature, kyphoscoliosis.
* Mucopolysaccharidoses can have cardiomyopathy and
mental retardation.
* Mucopolysaccharidoses is a congenital disease of
gray-matter with visceromegaly.
* Pediatrician examines a 5yo girl with hand wringing
movement and autistic behavior. This is Rett syndrome.
* syndrome found in girls, usually onset is 1yo when
they start losing milestones. There is an acquired
microcephaly. Look for purposeful movement,
specifically hand wringing. Autistic behavior with
social withdrawal.
* No diagnostic test for although ammonia levels can be
* Treatment is supportive care for, give anticonvulsants for seizures.
* kids develop generalized tonic-clonic seizures and
die in adolescence to third decade usually from a
sudden cardiac arrhythmia.
* Tay Sachs is a gangliosidosis, associated with
cerebral degeneration secondary to lysosomal storage of

a ganglioside, autosomal recessive, common in Ashkenazi

Jews (1 in 30 carrier rate).
* Tay Sachs babies are fine until about 6mo, then they
start missing milestones. Develop seizures, hypotonia,
blindness. Retinal exam shows cherry-red spot in the
macula. No treatment.
* 2mo infant is noted to have a head circumference
greater than the 95%ile. At birth the child was 50%ile
for head circumference and has grown since, while his
body had not grown as well. Exam reveals a large
fontanelle, wide- spaced sutures, dilated scalp veins,
and cracked pot sound on head percussion (MacewMcEwen,
* Hydrocephalus can occur as a result of impaired
circulation and absorption of the CSF, or by increased
production of CSF. Types are obstructive (noncommunicating) and non-obstructive (communicating).
* Obstructive hydrocephalus is usually caused by an
obstruction in the ventricular system. Usually an
abnormality of the aqueduct and a lesion in the fourth
* Non-obstructive usually results secondary to
meningitis, subarachnoid bleed, loss of subarachnoid
* Presentation depends on age and how quickly the fluid
accumulates. Slow might present as a kid with a big
head, where fast might present with vomiting and
* Infants will have accelerated head growth, wide open
bulging fontanelles, dilated scalp veins, Sunset sign

where babys eyes are always looking down due to

increased ICP.
* Older children may have irritability, lethargy, poor
appetite, vomiting, headaches, can have McEwen sign.
* CT scan would show greatly enlarged ventricles, at
the expense of brain.
* Arnold-Chiari malformation should be suspected in a
kid with fore-shortened occiput.
* Arnold-Chiari type I is not associated with
hydrocephalus and symptoms occur at adolescence,
obstruction at caudal portion of the forth ventricle.
Recurrent headaches, neck pain.
* Arnold-Chiari type II, seen with spinal dysraphisms
(spina bifida), progressive hydrocephalus,
* Dandy-Walker malformation is a cystic expansion of
the fourth ventricle, form of hydrocephalus. Will have
a prominent occiput (versus shortened occiput in
Arnold-Chiari). CT shows hydrocephalus with huge fourth
* Can do an ultrasound in infants placed on fontanelle.
But best test is CT scan.
* Therapy depends on cause of hydrocephalus.
* Medical treatment includes acetazolamide and
* Surgical shunt may be needed from brain to abdomen,
peritoneum will reabsorb the fluid.
* Shunt complications include bacterial infections
(think Staphylococcus epidermidis).

Anterior Horn Cell Disease;

* Pediatrician examines an infant who is on the exam
table in a frog-leg position with sub diaphragmatic
retractions and absent tendon reflexes.
* Spinal muscular atrophy (SMA) type I is called
Werdnig-Hoffman disease.
* Werdnig-Hoffman is a degenerative disease of the
motor neurons, atrophy of anterior horn cells in the
spinal cord and motor nuclei in the brainstem. So
atrophy of motor nerve roots and muscles.
* Werdnig-Hoffman is autosomal recessive. So odds of a
second child being affected are 1 in 4. Onset before
2yo. Look for floppy baby, frog-leg posture,
fasciculations specifically in the tongue. Tendon
stretch reflexes are absent, children have normal
intelligence, disease is uniformly fatal.
* Electromyogram of Werdnig-Hoffman will show
fibrillation. Creatine kinase will be normal or high.
Muscle biopsy shows denervation. Nerve biopsy shows
slow conduction.
* No medical treatment to stop progression of the
disease. Most die from respiratory failure, aspiration,
* SMA type III is called Kugelberg-Welander disease is
a juvenile form.
* 9yo child presents to the pediatrician because of
muscle pain and weakness in the lower extremities. The
parents state that the child is refusing to walk. The
patient was seen approximately 10 days ago with

* Guillain-Barr syndrome (GBS) generally occurs with a

preceding infection (e.g. campylobacter jejuni,
mycoplasma). There is an ascending paralysis,
polyneuropathy, any age affected.
* GBS is gradual onset and can last days to weeks. Can
affect muscles of respiration so intubation may be
* Tendon reflexes are lost early, weakness may
progress to respiratory muscles, need to do a spinal
tap (elevated protein, normal glucose, white count is <
* Nerve conduction studies show reduced conduction and
slowed sensory nerve conduction.
* Patients usually observed for symptoms, ventilator
needed if respiratory compromise.
* IV Ig may be used, some use steroids, some use
immunosuppressive drugs or plasmaphoresis.
* Generally spontaneous recovery in 2-3 weeks. Maintain
supportive care.
Hereditary Neuropathy & Muscular Dystrophy;
* Teenager presents to the clinic with claw hands and
stork-like lower extremities.
* Charcot-Marie-Tooth disease is the most common
genetic neuropathy, peroneal muscular atrophy,
autosomal dominant affecting all generations, symptoms
in late childhood or early adolescence.
* CMT symptoms include gait disturbances, clumsiness
with tripping over own feet, pectus excavatum by
teenage years, tremors, sensory loss in a stockingglove distribution.

* Peroneal and tibial nerves are the most frequently

affected, muscle wasting of lower legs (stork like
appearance), claw hands, and nerves can be palpated.
* Decreased sensory and motor nerve conduction. Test
is a sural nerve biopsy, showing onion-bulb formation
around the axons called interstitial hypertrophic
* Definitive genetic diagnosis is via blood testing.
* Treatment is brace with orthotics, nerve conduction
studies, no cure or good treatment.
* 3yo boy is brought to the pediatrician because the
patient is clumsy. According to the boys parents he is
having difficulty climbing stairs and frequently falls.
Exam shows hypertrophy of the calves with proximal
* Duchenne muscular dystrophy (DMD) is the most common
hereditary neuromuscular disease, x-linked recessive,
30% are new mutations, first sign may be poor head
control (head lag).
* Pseudo-hypertrophy of the calves is due to fatty
infiltration. Mild if any delay in early gross motor
skills. Gower sign is seen by 3yo where the child
crawls up on themselves due to limb-girdle weakness,
may have Trendelenburg gait or duck-waddle when they
walk, patients will eventually lose ambulation, develop
poor coughing and pharyngeal weakness, cardiomyopathy,
uniformly fatal dying from respiratory insufficiency or
* Treatment is supportive.
* Diagnosis is made by muscle biopsy. Suspicion with
exam and family history, blood test shows greatly

elevated creatine kinase (CK). May get a history of

malignant hyperthermia.
* 5yo goes for surgery to get tubes put in his ears.
After induction of anesthesia, the patient develops
malignant hyperthermia. CK is hugely elevated. Further
testing days later reveals Duchenne muscular dystrophy.
* Death usually occurs by age 18 from respiratory
problems, rarely heart problems.
* Becker muscular dystrophy is a juvenile form of DMD,
course is slower, pseudohypertrophy, cardiac and
nervous system involvement, less common than DMD.
Neurocutaneous Syndromes;
* 6yo presents to the pediatrician for routine
evaluation. The child is noted to have 10 caf-au-lait
lesions as well as axillary freckling. This is von
Recklinghausen (neurofibromatosis).
* Neurofibromatosis (NF) is autosomal dominant, there
are spontaneous mutations. Forms are NF1 and NF2.
* NF patients are high risk for neurologic
complications as well as malignant neoplasms.
* Caf-au-lait spots should be counted. For NF1, need
5+ spots > 5mm in size pre-pubertal or at least 6 spots
> 15mm post-pubertal. There may be axillary or inguinal
freckling. Lisch nodules are found in the eye, only
seen on slit lamp exam. 2+ neurofibromas,
kyphoscoliosis, or optic glioma. Need 2 of these
criteria for NF1.
* NF2 needs one of bilateral CN VIII nerve deftness due
to acoustic neuroma or a parent, sibling, or child with

NF type 2. Bilateral acoustic neuroma is more common in

this case.
* NF-1 is on chromosome 17 (17 letters in von
Recklinghausen) and NF-2 found in chromosome 22.
* NF patients at higher risk for scoliosis, so could
see this on exam along with the spots.
* Neurofibroma is a nerve sheath tumor extending from
skin, may occur in the cauda equina and spinal cord
* Testing is routine CT scanning of the head, routine
ophthalmology follow up.
* 1mo infant presents with infantile spasms and
hypsarrhythmia on EEG. An ash-leaf spot if found in the
* Tuberous sclerosis is a neurocutaneous syndrome with
mental retardation, fibroangiomas, and hypopigmented
spots of the skin. Children have seizures. Autosomal
dominant, chromosomes 9 and 16 but 50% are new
* Mental retardation is more common in patients that
present with symptoms of tuberous sclerosis at a
younger age in addition to the skin and brain, heart,
lungs, kidney, eye, and bone can be affected.
* 6mo is in the hospital for evaluation of a seizure.
An ash-leaf spot is found. All of a sudden, the child
goes into vfib cardiac arrest. The patient is
defibrillated, but it happens again an hour again, then
two hours later it happens then six hours later it
happens. Electrophysiologic studies show a hamartoma in
the conduction pathway, which is successfully ablated.

* Infants can present with infantile spasms, high

incidence of mental retardation, can have generalized
* Shagreen patch can occur mostly on the lower back,
looks like rough skin slightly raised sorta like
varicose veins.
* Tuberous sclerosis patients can have sebaceous
adenomas that look like acne around nose.
* Half of patients have rhabdomyomas of the heart,
leading to arrhythmias.
* May have ungual fibromas on the nailbeds of the
fingers/toes, can have retinal hamartomas.
* Tubers are the characteristic lesions on brain
imaging, seeing periventricular calcified tumors on CT
or MRI.
* Order an echocardiogram of the heart looking for
* Treatment is seizure control.
* Newborn child is examined in the nursery by the
pediatrician. The patient is the product of a term
spontaneous vaginal delivery without complications.
Exam shows large facial nevus.
* Port-wine stain is unilateral in the distribution of
the trigeminal nerve and does not go away.
* Sturge-Weber syndrome associated with facial nevus
(port-wine stain) and is associated with intracranial
calcifications, hemiparesis contralateral to the facial
lesion, mental retardation with developmental delay.
* Etiology is thought to be a vascular anomaly.

* CT scan shows calcifications, sometimes can be seen

on skull films.
* If no mental retardation, therapy is conservative.
* Treatment is to control seizures. If seizures are
difficult to control, do hemipherectomy to take out
affected calcified part of the brain.

Child abuse is divided into physical, sexual, nonorganic failure to thrive, and Mnchausen by proxy.
Child Abuse (Physical):
* 2yo presents to the ED with a skull fracture that
the mother states that the child acquired after falling
from a sofa onto a carpeted floor. During the physical
exam, the child is alert and is noted to have old
bruising on the buttocks and back as well as a
cigarette burn on his palm. The mother states that the
child falls a lot and is always touching things he
should not touch.
* Physical abuse is intentional injury to a child
younger than 18yo by the parent, guardian, or
caregiver, resulting in burns, bruises, lacerations, or
any bodily harm.
* Anybody can be a child abuser, it cuts across all
socioeconomic strata. Profile is usually an adult under
stress, lonely, and unhappy. May be inciting event
causing the caregiver to physical abuse (e.g. loss of
job, divorce, special needs child). Poverty increases
* Example would be special needs child with severe
developmental delay, cries all the time, colicky baby,

parent just worked their third double-shift to pay the

bills, no one can keep the kid calm, parent gets angry
and slams kid against the wall, then parent immediately
worries oh no, what did I do.
* Caregivers who are or were abused are at high risk
for becoming abusers themselves.
* 6wk baby has had vomiting for the past two weeks.
Pediatrician examines and admits patient to the
hospital. In the hospital the baby has a seizure. CT
scan shows subdural hematomas. Exam showed large head,
split sutures, tense fontanelle. Parent finally
confesses that they shook the child.
* The child who is physically abused my present with
physical findings that are not consistent with the
history of the childs developmental stage. Parents may
have no explanation for the injury, or the story that
both parents give is perfect and exactly the same
(meaning the parents rehearsed the story).
* Head trauma is the most common cause of death from
physical abuse and more than 95% of serious
intracranial injury in the first year of life is from
* Parent or guardian may have delay in seeking the
appropriate care for the injury.
* Exam for fractures and bruises in various stages of
healing, bruise pattern looking like an object,
cigarette burn as a circular punched-out lesion that is
uniform in size, immersion burns sparing folds (child
draws legs up), bite marks, alopecia. Always check for
retinal hemorrhage.

* Shaken babies present with coma, seizures, apnea,

evidence of increased ICP.
* Retinal hemorrhage with subdural hematoma is shaken
baby until proven otherwise.
* The earlier that the child is abused under 6mo, the
greater the fatality rate.
* Intra-abdominal injuries are the second most common,
lacerated liver, spleen, intestines.
* Obtain a good history, good physical, take pictures.
* Labs include CBC, platelets, coagulation studies, xrays of the long bones looking for healing fractures.
* Reporting child abuse is not only the physicians
duty but their legal obligation. You are not the
detective, you are protected by the law. You cannot be
sued for slanderparents may slash your tires or attack
you, but cant sue you.
* If perpetrator says you think I did it, dont you,
you can say that it is not your decision or job to
* Treatment is reporting, documenting, hospitalization
if necessary, treat any injuries, counseling as
* It takes a lot of force to leave finger marks on a
child from slapping, there is soft tissue protecting
the capillaries.
* Loops marks are indicative of being hit with a
telephone cable, coat hanger, or other wire object.
* Any bite mark greater than 3cm across is an adult.
Sometimes older bite marks show under UV (Wood) light.

* Torus (spiral) fractures should make you suspicious

for abuse.
* 2mo is brought in with a depressed skull fracture
after rolling off the bed. Most 2mo children do not
roll over. Also, falling off the bed onto a carpeted
floor will not cause a depressed skull fracture. This
is abuse.
* Child is brought in with burns on both legs in a
stocking distribution and splash burns at the knees
above the main burn. Parent says the child jumped into
the tub and didnt know the water was hot. Most
children do not jump into a tube with both feet at the
same time. This child was dunked into the tub of hot
* Differential diagnosis includes impetigo (skin
lesions), coining or cupping (folk remedy), insect
bites, ITP, scurvy, syphilis, osteogenesis imperfecta
(will have lots of fractures).
Child Abuse (Sexual);
* 3yo girl presents with green vaginal discharge,
microscopic evaluation of the discharge reveals Gramnegative intracellular diplococci. This is gonorrhea.
* Sexual abuse should be suspected with posterior
forchette tear in girls and anal tears in boys or
* During routine exam, genital warts are found around
the anus of a pre-pubertal child. This is sexual abuse.
* Examination of the child should occur in the
standard lithotomy position and/or knee-chest position.

* Any sexually transmitted disease in pre-pubertal

children is considered sexual abuse until proven
* Child sexual abuse is with a child under the legal
age of consent with another who is significantly older
than the child. Could be a 14yo, not just an adult.
* May include molestation, sexual intercourse, incest,
and rape.
* The victim is usually a girl and perpetrator is
usually a male, someone that they know. Not someone
jumping out of the bushes or someone you see on T.V.
Strangers are the least likely to be the perpetrator.
* Boys under-report sexual abuse because they feel they
should have protected themselves.
* 97% of sexual abuse offenders are men. 1/3 of the
victims are toddlers.
* Do good physical exam, good history, appropriate
* Sometimes the patient will complain of genital pain,
anal trauma, recurrent UTIs, enuresis, encopresis.
* They may tell their friend or mother. May have
inappropriate sexual behavior that makes you
* Child may know about sexual behavior specifics not
appropriate for their age. For example, a child may
know what a penis looks like but is likely not familiar
with ejaculation.
* Many times there will be a completely normal physical
exam. This does not mean something did not happen. A

positive exam however is very indicative of sexual

* Look for evidence of trauma, vaginal discharge, bite
marks, bruising, pregnancy if old enough.
* Hymen opening is generally < 5mm in girls < 5yo. It
grows by 1mm a year up to 9 years of age. Be suspicious
if larger than that, but not a diagnostic finding.
* Check for STDs, hepatitis, HIV, send any cultures to
lab if ejaculate is found.
* Treatment is for STDs, infections, report abuse,
* Reporting child sexual abuse is not only the
physicians duty but their legal obligation.
Child Abuse (Non-Organic Failure To Thrive);
* 4mo infant presents to the ED because the mother
states that the infant has upper respiratory symptoms.
The patient is less than the 5th percentile for weight
and length at 3.5kg. Birth weight was 4.2kg. The mother
states that the child takes 16oz of infant formula per
day with cereal added.
* Usually non-organic failure to thrive (FTT) is lack
of calories. Usually it is in a younger child because
older children can forage for food, opening the fridge
or cabinets.
* Factors contributing to non-organic FTT include
inadequate nourishment secondary to insufficient
knowledge from the parent, substance abuse, depression,
poverty, retardation, emotional disturbances.
* The parent usually does not give a good nutritional
history. They may say he eats like a pig or hes

always hungry or he eats like crazy or we always

feed him. You can watch the mom feed the child in the
* The child may be very thin with prominent ribs and
wasted buttocks because of loss of subcutaneous tissue.
Look for dirty babies, long uncut fingernails, flat
occiput (because they are ignored and left in their
crib), may have a dull expression to their face because
they get no interaction, impetigo or candidal diaper
rash or thrush, developmental delay especially speech
and social skills.
* Treatment is to feed the baby in the hospital. If the
baby starts to gain weight, you have your diagnosis.
* Testing is not really needed especially if they are
gaining weight on feeds.
* Like other forms of child abuse, these cases need to
be reported.
* Maybe the mother just needs training, so social
services and child protective services should be
* Differential includes hypothyroidism, cystic
fibrosis, malabsorption, Celiac disease, organic FTT
Child Abuse (Mnchausen By Proxy);
* 3yo presents to the hospital with severe diarrhea.
The mother is a nurse employed by one of the physicians
on staff. She is well liked by the hospital team
because she is so willing to help out, taking her
daughters vital signs and feeding her. However, after
three days of extensive therapy the patient shows no
improvement. The medical team cannot understand why the

child remains ill until a nurse assistant finds

chocolates under the sheets while making the patients
bed. (the chocolate is actually a laxative)
* Mnchausen by proxy is usually done by a female with
some medical background (e.g. nurse). The person will
get secondary gain by inducing illness in the child.
* Child may have recurrent admissions, like 6
admissions for apnea. Multiple tests will be done, CT
scans, pH probes, blood gases, but nothing will be
found. Mother comes out of room and calls for a nurse
because there is another apneic episode. Nurse comes in
and baby is gagging and just catching its breath. They
decide to put a camera in the room and find one night
that the mother is putting a pillow over the babys
* Parent, usually mother, fabricates or induces illness
in the child. Parent may have a history of that type of
environment, they may be creating their own symptoms
for the parent them self.
* Parent may be regarded as a model parent. Is doing
this to get secondary gain, attention.
* Parent may seem unconcerned about childs illness and
may form close bonds with the health care team.
* Child is usually less than 6 years of age, when they
cannot defend themselves.
* Child usually presents with symptoms that are not
compatible with recognized disease.
* Exam may show chronic diarrhea from laxatives,
rashes due to caustic substances, blood in stool or
urine (urethra may be traumatized), recurrent sepsis

from feces being injected under the skin, apnea from

suffocation, seizures from injection of insulin.
* If high index of suspicion, not many tests need to be
run. Maybe try to catch parent in the act.
* All specimens should be analyzed. Old medical records
should be obtained and reviewed. Can get a court order
for this to put a camera in the room and watch the
parent interact with the child.
* Once diagnosis is established, the offending person
needs counseling (and may go to jail). Reporting is
* Complications include abuse, emotional problems,
disability, death.

Normal Adolescent Development:

* Definition of adolescence is the period that bridges
childhood and adulthood. It begins at about 11-12yo and
for most ends at 18-21yo. Puberty occurs during
* Major events of puberty include growth spurt, body
composition changes, organ system changes, sex organ
changes, secondary sex characteristics, hormone
* Most common causes of mortality in adolescence is
motor vehicle accidents, then suicide (girls attempt
more frequently, boys are more successful), homicide
especially in African Americans, and cancer is 4th.
* Common cancers in adolescence include Hodgkin and
bone tumors.

* Common causes of morbidity in adolescence are

unintended pregnancy, sexually transmitted diseases,
smoking, dropping out of school, depression, run away,
physical violence, crime/juvenile delinquency.
* Major outcomes of puberty are achieving adult size
and appearance, clear distinction of sexes, and
achieving the ability to reproduce.
* Features of puberty include similar sequence of
changes, variable timing of changes, variable rates of
changes, permanence of changes, physical reflects
* Features of early adolescence (10-15) are physical
changes and concerns, sense of being center stage,
sense of invulnerability, wide mood swings, rejection
of childhood things, beginnings of emancipation, nonparent adult role models, comparing self to peers,
concrete thinkers, sometimes feel awkward, more
comfortable with same-sex peers.
* Features of middle adolescence are more independence,
sense of identity, more comfortable with their bodies,
mood swings continues, peers group is important,
abstract thinking is beginning to develop, dating and
experimenting, relationships are one-sided (what can I
get out of this relationship), puberty is almost
complete, testing or showing-off of new body, idealism
and commitment to causes.
* Features of late adolescence are less self-centered,
mainly independent decisions/actions, established,
realistic, self-identity, realization of vulnerability
and limitations, definition of adult role in society
and family, intimate dating, relationships with others
are less one-sided, think about future.

* 14yo girl who has not yet achieved menarche presents

to the physician with her concerned mother. The mother
is afraid that her daughter is not normal. Exam shows a
well nourished individual in the 50th percentile for
height and weight, breast exam shows enlarged areolar
diameter but no separation of contours, pubic hair is
increased in amount and is curled but not course in
texture. The mother and daughter wait anxiously for
your opinion. Answer is dont worry about it, give it
some time.
* 15yo boy brought in by mother because she sees breast
enlargement, one-sided gynecomastia. She wants to know
if her son has breast cancer. Theyll describe the
Tanner stage and you can say dont worry about it.
* Sequence of puberty in girls: breast buds appear,
pubic hair appears, growth spurt, axillary hair, pubic
hair matures, breasts mature, menarche (first period),
adult height.
* First sign of puberty in girls is breast bud
* Menarche around 12-13yo depending on family, late
event in puberty, growth rate slowing down, bleeding
often irregular, many reasons for delay. Ask mother how
old she was when she had menarche.
* Menarche delay can occur in the physically active
too, such as a marathon runner.
* Sequence of puberty in boys: growth of testicles,
pubic hair appears, growth of penis and scrotum,
axillary hair, first ejaculations, growth spurt, facial
hair. * First sign of puberty in boys is testicular

* Female Tanner I is pre-adolescent. Tanner II is

breast budding (areola, papilla)
* Tanner III is areolar enlargement with no separation
of contours.
* Tanner IV is areola with papilla and secondary mound.
* Tanner V is mature female breast.
* Pubic hair Tanner I is no pubic hair. Tanner II is
long and straight, sparse.
* Tanner III is curling and darker pubic hair.
* Tanner IV is adult but not on thighs. Tanner V is
onto the thighs.
* Male Tanner I is pre-adolescent. Tanner II is
enlargement of testicles.
* Tanner III is growth in length and circumference of
penis. Tanner IV is larger, darkening of scrotal skin.
* Tanner V is adult penis, scrotum, and testicles.
* Puberty starts at 11-12 in boys, 10-11 in girls.
Growth spurt is 14 in boys, 12 in girls.
* Spermarche is 13-14, menarche is 12-13. Length of
puberty is 3-4 years in boys, 4-5 years in girls.
* Common concerns about puberty include starting too
late or too early, unequal development of breasts,
breast tissue in boys, acne, dandruff, body odor, Im
not normal.
* Boy brought in by mother because of unilateral breast
enlargement. Exam shows normal sized testicles (not
Klinefelter's). Re-assure mother that this is normal.

* Teenager may come in complaining of a cold for a

couple of days. This isnt normal, probably not the
real problem. Theyll either wait until the end and say
by the way or you can approach the issue. Are you
taking anything for your acne? We can help you with
* Complications of adolescence are related to growth
and development, morbidity and mortality.
* Females may have amenorrhea, dysfunctional uterine
bleeding, dysmenorrhea, STDs in both sexes.
Sexually Transmitted Diseases;
* 16yo girl presents to her physician because of
fever, chills, pain, and swelling in the small joints
of her hands. There is a maculopapular rash seen on her
upper and lower extremities.
* Gonorrhea is an infection caused by Neisseria
gonorrhea affecting mucous membranes and the GU tract.
* Gonorrhea can affect the oropharynx, rectum, and
conjunctiva. * Clinical presentation varies, may have
urethritis, cervicitis, dysuria, may be asymptomatic.
May disseminate.
* Boys may have a purulent discharge and burning with
urination. Girls may have purulent discharge,
suprapubic pain, and dysuria. Cervix can be inflamed.
Rectal gonorrhea can be asymptomatic.
* Culture of discharge is the test of choice. Culture
blood if you suspect disseminated gonorrhea.
* Check for other STDs, like chlamydia.
* Treatment of choice for gonorrhea is ceftriaxone,
usually given IM injection.

* Treatment can also include azithromycin or

doxycycline PO because you worry about chlamydia.
* Complications include disseminated disease,
abscesses, pelvic inflammatory disease, Fitz-HughCurtis.
* Fitz-Hugh-Curtis syndrome is caused by adhesions from
gonorrhea infection, violin string sign seen on
exploratory laparotomy, patient may complain of RUQ
pain with or without salpingitis. The RUQ pain is due
to seeding of the liver capsule.
* 17yo boy presents to the ED with a persistent penile
discharge. He states that he visited his family
physician last week for the same problem. At that time,
they gave him an IM shot of penicillin. However, that
did not help and he wants a second opinion.
* Chlamydia can cause a variety of diseases in
adolescence such as a non-gonococcal urethritis.
* Patient may be asymptomatic or can present with
urethritis, cervicitis, Fitz-Hugh-Curtis, PID.
* Girls may have a mucoid discharge, boys may be
* Testing should include chlamydial cultures, can do
antigen detection kits.
* Treatment is azithromycin or doxycycline. If
pregnancy, give erythromycin (tetracycline
* Treatment should be for all sexual partners.
* 15yo presents to her physician because she has a
yellow foul-smelling vaginal discharge. Exam shows a
strawberry cervix.

* Trichomonas vaginalis is an STD more commonly seen in

girls with multiple partners, can be transmitted to the
neonate during the birth process, usually self limited.
* Usually patients complains of pruritus and foulsmelling foamy/frothy vaginal discharge, can have
cervical hemorrhages (strawberry cervix).
* Saline prep wet mount can show trichomonas moving or
vibrating on the slide.
* Treatment is metronidazole, treat all sexual
* 17yo sexually active boy presents to the physician
because of painful ulcerations on his glands penis and
on the staff of his penis. He has multiple sexual
partners and does not use condoms. Fever and inguinal
adenopathy are also found on exam.
* Herpes simplex affects the skin, eye, oral mucosa,
CNS, genital tract. Type I may cause genital disease
but is usually non-genital infection of the mouth,
lips, eyes, and CNS (temporal lobe encephalitis).
* HSV meningitis can be caused by someone with an oral
lesion kissing the child.
* Type II HSV is the sexually transmitted form, seen in
teenagers and adults. Present with fever, regional
adenopathy, and dysuria. Girls have vesicle ulcers on
the vulva or vagina, cervix is primary infection site.
* Test is the Tzanck smear (or stain) showing
multinucleated giant cells or inclusion cells.
* Treatment is acyclovir. Valacyclovir is another
option that does not have to be taken as often.
Acne Vulgaris;

* A mother brings her 15yo daughter to the

dermatologist because she has developed pimples. The
mother says the childs face breaks out because she
drinks soda pop. The daughter is argumentative about
this but admits she drinks soda everyday at lunch. The
mother would like you to tell her daughter to stop
drinking soda. Exam shows open and closed comedones,
and pimples on her forehead, nose, and cheeks.
* Tell the mother soda is not good for the child, but
has nothing to do with acne.
* Diet has nothing to do with acne. Acne is caused by
dirt, hormones, and bacteria (Propionibacterium acnes).
* Types of acne include open and closed comedones,
papules, pustules, and nodulocystic.
* Physical exam shows the variety of lesions, can be
anywhere (face, back).
* Test of choice is your eyeballs, just look at it and
determine that it is acne.
* Treatment includes keeping skin clean by washing a
couple of times a day with a mild soap. Cleaning
several times a day can irritate the skin and worsen
the acne. Avoid make-up, as it plugs pores.
* Treatment does not involve dietary change, no need to
eliminate soda, chocolate, greasy foods.
* Topical preparations are a good start, such as benzyl
peroxide or tretinoin topically. Apply topical
tretinoin at night because it can cause
photosensitivity. Also topical antibiotics.
* Topical therapy takes a few weeks to work.

* Systemic therapy is indicated if there is severe acne

or not responding to topicals. Drug of choice is
tetracycline, tell patient to avoid pregnancy.
* Next step is hormonal therapy, such as anti-androgen
like spironolactone. Last step is systemic
isotretinoin, and you have to get a pregnancy test
prior to starting therapy. May need patient to sign an
agreement about pregnancy.
* Corticosteroids can help as well as dermal abrasion.
* Complications of acne include scaring, secondary
infection/inflammation from popping zits, medication

Beckwith-Weidemann Syndrome (BWS):

* Beckwith-Weidemann syndrome (BWS) occurs in about 1
in 14,000 live births. Characterized by macrosomia and
accelerated osseous maturation. May have mental
deficiency, mild to moderate.
* Physical exam will show macroglosia, which can
obstruct the airway and cause feeding problems.
* Exam shows large fontanelle and possibly a linear
fissure in the ear lobe.
* BWS babies are at risk for hypoglycemia, occurs in
1/3 to 1/2 of patients.
* Can have organomegaly of the pancreas and kidney, can
have an omphalocele.
* Neonate will have apnea and cyanosis with feeding
problems due to large tongue. Treatment for the

macroglosia is wait for the child to get older and the

mouth will grow around the tongue.
* BWS babies are at higher risk for Wilm's tumors and
* Treatment includes screening renal ultrasounds every
six months until 6yo.
Potter's Syndrome;
* Potter syndrome babies have characteristic facies
with small chin, small nose, low-set ear, and no
* Potter syndrome babies have bilateral renal agenesis
that is incompatible with life.
* They die from respiratory insufficiency due to poorly
developed lungs. They could not urinate in-utero, so
less amniotic fluid which helps with lung development.
* Potter syndrome associated with a history of
oligohydramnios, die from pulmonary hypoplasia.
* Potter facies is hypertelorism (wide spaced eyes),
epicanthic fold, low-set malformed ears, micrognathia,
flat nose.
* Pierre Robin sequence is a part of some syndromes or
may be an isolated finding. Associated with severe
micrognathia. Hypoplasia of the mandibular area,
pushing tongue back and preventing closure of the
palatal shelf so they may have a cleft soft palate
associated with the problem.
* Pierre Robin sequence associated with glossoptosis
(tongue sticks out a little), relative macroglosia.

* Patients may require tracheostomy until the airway

reaches the proper size to not be a problem.
* Pierre Robin syndrome can be a feature of other
syndromes like Edward or Stickler syndrome (autosomal
dominant with arthritis and ocular problems).
* With Pierre Robin sequence, think about airway

Fetal Alcohol Syndrome (FAS);

* Alcohol is the most common teratogen to which the
fetus will be exposed.
* The amount of alcohol needed to get teratogenic
effects is unknown.
* Fetal alcohol syndrome associated with pre- and postnatal growth deficiency, mental retardation, average IQ
of 63 particularly in full syndrome, irritability,
hyperactive as children, fine motor dysfunction.
* Physical findings include microcephaly, short
palpebral fissures, maxillary hypoplasia, short nose,
smooth philtrum, thin upper lip, micrognathia.
* FAS associated with cardiac anomalies, usually septal
defects. May have ptosis, cleft lip, tetralogy of
* Appear as failure to thrive because they have thin
adipose tissue.
* Symptoms depend on how much the mother drank during
* FAS with 2 drinks per day results in a smaller birth

* FAS with 4-6 drinks per day results in subtle

physical findings.
* FAS with 8-10 drinks per day results in severe fetal
alcohol syndrome.
* There is no treatment for FAS.
Down Syndrome;
* Trisomy 21 is the most common form of congenital
malformation, 1 in 660 births.
* Signs include hypotonia, protruding tongue, short
stature, awkward gait, hyper flexible joints, diastasis
of the rectus muscle, mental retardation, foreshortened
AP diameter of the head, upslanting palpebral fissures.
* Down characteristics includes epicanthal folds,
mongoloid slant to eyes, slightly protruding tongue,
simian crease (10% of normal population has this), wide
space between first and second toes (sandal toes),
characteristic dermatoglyphic fingerprint pattern,
clinodactyly (short curved inward 5th finger), low-set
ears sometimes.
* Eyes can show Brushfield spots in the periphery of
the iris. Can have hypoplastic teeth.
* Cardiac abnormalities include endocardial cushion
defects, ASDs, VSDs.
* Can have very dry skin and can have cutis marmorata
(like mottled skin).
* Pubic hair is fine, soft, sparse, and straight.
* May have seizures, strabismus. Remember duodenal

* Down children at higher risk for malignancies,

including leukemia and thyroid disease.
Edward Syndrome;
* Trisomy 18 have a prominent occiput (compared with
flat occiput in Downs).
* Will have weak or feeble activity, a weak cry, growth
deficiency, mental retardation, low-set ear.
* Hands will have overlapping fingers (4th over 5th,
3rd over 2nd) and hypoplastic nails.
* Can have hammer toes and rocker bottom feet.
* Cardiac defects include ASDs, VSDs, PDA.
* Up to 10% survive to one year of age.
Marfan Syndrome;
* Marfan characteristically is very tall patient with
long fingers (arachnodactyly), long limbs, muscle
hypotonia, kyphosis or scoliosis, lens dislocations or
lens subluxations (may wear really thick eye glasses).
* These patients are at higher risk for dissecting
aortic aneurysms. Caused by a defect in fibrillin gene.
* May have hemivertebra, scoliosis. Are of normal
intelligence. Autosomal dominant.
Turner's Syndrome;
* Look for pitting lymphedema in a newborn. This will
go away.
* Turner patients all have short stature, so think
about Turner with any short stature female for

* Signs include wide-spaced nipples (shield chest),

multiple nevi, low posterior hairline (webbed neck,
pterygium colli), cubitus valgus (cannot straighten
arm), hypogonadism.
* Risk for aortic coarctation, bicuspid aortic valve,
horseshoe kidney, may have blue sclera.
* Treatment is estrogen replacement when they get to
the right age.
Prune Belly Syndrome;
* Prune belly syndrome is congenital absence of the
abdominal muscles.
* Higher risk for renal abnormalities, volvulus,
constipation, undescended testes, 95% are males.
Ehler-Danlos Syndrome (EDS)
* Ehler-Danlos syndrome is autosomal dominant, may have
very stretchy skin. Autosomal recessive in type VI.
* This is a collagen deficiency, hyper extensible
joints, velvety skin, friable easily bruising skin,
poor healing.
* Avoid surgery on EDS patients as much as possible.
Risk of uterine tears. Mitral valve prolapse occurs.
Peutz-Jegher Syndrome;
* Hyperpigmented lesions seen in oral mucosa, goes
away with time. Associated with multiple polyps.
* Autosomal dominant, high rate of spontaneous
* Lesions on lips and mucous membranes. Polyps found in
the jejunum, nasopharynx, and bladder.

* Polyps usually do not turn malignant. Patients can

have finger clubbing.
Klinefelter's Syndrome;
* Patients have hypogonadism, slender, tall, eunuchoid
* Patients have gynecomastia. Will have low IQ and
behavior problems.
Fragile X Syndrome;
* Fragile X is the most common cause of inherited
mental retardation.
* Signs are big ears, big head, big testicles
(orchidomegaly), and mental retardation.
Ataxia Telangiectasia Syndrome;
* Ataxia telangiectasia syndrome is autosomal
recessive. Ataxia begins shortly after they can walk.
* Telangiectases appear at about 3-6yo. Will be
wheelchair bound by age 10.
* Problem with upper respiratory problems and immune
deficiencies. Higher risk for malignancy.
* There is ataxia, choreoathetosis, drooling, mask-like
Prader-Willi Syndrome;
* Prader-Willi syndrome is 3 Hs and an O. Hypomentia,
hypotonia, hypogonadism, obesity. These children have a
problem with leptin and will always be hungry, parents
may need to lock the cabinets and refrigerator.
* Paternal deletion of chromosome 15, imprinting defect
similar to Angelman syndrome.

Waardenburg's Syndrome;
* Waardenburg's has lateral displacement of the inner
canthus, severe bilateral deftness, partial albinism.
* May describe partial albinism as a white forelock,
white hair in the middle with the rest of the hair
* This is autosomal dominant, dont forget hearing loss
* Achondroplasia is autosomal dominant but the
majority are fresh mutations.
* Will have short stature, large head, may develop
hydrocephalus because foramen magnum is narrow.
* Will have normal intelligence. Prominent forehead,
lumbar lordosis, short limbs in proportion.
LEOPARD Syndrome;
* Lentigines (multiple warty nevi), ECG abnormalities,
Ocular hypertelorism, Pulmonic stenosis, Abnormal
genitalia (hypogonadism, cryptorchidism), Retarded
growth, Deftness.
* Also known as cardiocutaneous syndrome or Gorlin
syndrome II.

Pediatrics Clerkship:
Be On Time: Most wards teams begin rounding around 8am.
Give yourself at least 15 minutes per patient for prerounding to learn about events that occurred overnight
or laboratoty/imaging results.
Dress In A Professional Manner: Regardless of what the
attending wears. A short white coat should be worn over
your professional dress clothes unless it is
Act In A Pleasant Manner: The medical rotation is often
difficult, stressful, and tiring. Smooth out your
experience by being nice to be around. Smile a lot and
learn everyones name. Dont be afraid to ask how your
residents weekend was. If you do not understand or
disagree with a treatment plan or diagnosis, do not
challenge. Instead, say Im sorry, I dont quite
understand, could you please explain... Show kindness

and compassion toward your patients. Never participate

in callous talk about patients.
Take Responsibility: Know everything there is to know
about your patients: their history, test results,
details about their medical problem, and prognosis.
Keep your intern or resident informed of new
developments that they might not be aware of, and ask
them for any updates you might not be aware of. Assist
the team in developing a plan; speak to radiology,
consultants, and family. Never give bad news to
patients or family members without the assistance of
your supervising resident or attending.
Respect Patients Rights:
1. All patients have the right to have their personal
medical information kept private. This means do not
discuss the patients information with family members
without that patients consent, and do not discuss any
patient in hallways, elevators, or cafeterias.
2.All patients have the right to refuse treatment. This
means they can refuse treatment by a specific
individual (you, the medical student) or of a specific
type (no nasogastric tube). Patients can even refuse
life-saving treatment. The only exceptions to this rule
are if the patient is deemed to not have the capacity
to make decisions or understand situations, in which
case a health care proxy should be sought, or if the
patient is suicidal or homicidal.
3. All patients should be informed of the right to seek
advanced directives on admission. Often, this is done
by the admissions staff, in a booklet. If your patient
is chronically ill or has a life-threatening illness,

address the subject of advanced directives with the

assistance of your attending.
More Tips: Volunteer, be a team player, be honest, and
keep patient information handy.
Present In An Organized Manner: This is a [age] year
old [gender] with a history of [major/pertinent history
such as asthma, prematurity, etc. or otherwise healthy]
who presented on [date] with [major symptoms, such as
cough, fever, and chills], and was found to have
[working diagnosis]. [Tests done] showed [results].
Yesterday/ overnight the patient [state important
changes, new plan, new tests, new medications]. This
morning the patient feels [state the patients words],
and the physical exam is significant for [state major
findings]. Plan is [state plan].
On Outpatient: The ambulatory part of the pediatrics
rotation consists of mainly two parts: focused
histories and physicals for acute problems and wellchild visits. Usually, you will see the patient first,
to take the history and do the physical exam. It is
important to strike a balance between obtaining a
thorough exam and not upsetting the child so much that
the attending wont be able to recheck any pertinent
parts of it. For acute cases, present the patient
distinctly, including an appropriate differential
diagnosis and plan.
In this section, be sure to include possible
etiologies, such as specific bacteria, as well as a
specific treatment (e.g., a particular antibiotic,
dose, and course of treatment). For presentation of
well-child visits, cover all the bases, but focus on
the patients concerns and your findings. There are
specific issues to discuss depending on the age of the

child. Past history and development is important, but

so is anticipatory guidanceprevention and expectations
for what is to come. The goal is to be both efficient
and thourough.

Pediatric Secrets:
1. Methods to increase compliance by adolescents with
medical regimens include the following: simplifying the
regimen, making the patient responsible, discussing
potential side effects, using praise liberally, and
educating the patient.
2. A pelvic examination is not required before
prescribing oral contraceptives for teenagers without
risk factors. Appropriate screening for sexually
transmitted diseases and possible cervical dysplasia
can be scheduled, but delaying oral contraception
unnecessarily increases the risk of pregnancy.
3. Emergency contraception should be discussed with all
sexually active adolescents; 90% of teenage pregnancies
are unintended.

4. Teenagers with attention deficit hyperactivity

disorder (ADHD) and conduct disorders are at high risk
for substance abuse disorders. Substance abuse is often
associated with comorbid psychiatric disorders.
5. Calluses over the metacarpophalangeal joints of the
index and/or middle fingers (Russell sign) may indicate
repetitive trauma from self-induced attempts at
vomiting in patients with eating disorders.
6. Appreciating that ADHD is a chronic condition (like
asthma or diabetes) is useful for management
strategies, follow up, and ongoing patient/parental
education and involvement.
7. Although colic is common and resolves spontaneously
by 3 months, do not underestimate the physical and
psychological impact of the condition on the relatives.
8. Bilingual children develop speech milestones
normally; two-language households should not be
presumed as a cause of speech delay.
9. Most amblyopia is unilateral; vision testing solely
with both eyes open is inadequate.
10. Congenitally missing or misshapen teeth can be
markers for hereditary syndromes.
11. Syncope in a deaf child should lead one to suspect
prolongation of the QT wave on the electrocardiogram.
12. Bounding pulses in an infant with congestive heart
failure should cause one to consider a large patient
ductus arteriosus.
13. If a bruit is heard over the anterior fontanel in a
newborn with congestive heart failure, suspect a
systemic arteriovenous fistula.

14. The chief complaint in a child with congestive

heart failure may be nonspecific abdominal pain.
15. Diastolic murmurs are never innocent and deserve
further cardiac evaluation.
16. Patients with atypical Kawasaki disease (documented
by coronary artery abnormalities despite not fulfilling
classic criteria) are usually younger (<1 year old) and
most commonly lack cervical adenopathy and extremity
17. Neonates with midline lumbosacral lesions (e.g.,
sacral pits, hypertrichosis, lipomas) should have
screening imaging of the spine performed to search for
occult spinal dysraphism.
18. Hemangiomas in the "beard distribution" may be
associated with internal airway hemangiomas.
19. Infantile acne necessitates an endocrine workup to
rule out precocious puberty.
20. If a child develops psoriasis for the first time or
has a flare of existing disease, look for streptococcal
21. Look for associated autoimmune thyroiditis in
children who present with a family history of thyroid
disease and extensive alopecia areata or vitiligo.
22. Most cardiac arrests in children are secondary to
respiratory arrest. Therefore, early recognition of
respiratory distress and failure in children is
23. Because children are much more elastic than adults,
beware of internal injuries after trauma; these can
occur without obvious skeletal injuries.

24. Because children get colder faster than adults as

the result of a higher ratio of body surface area to
body mass, be sure that hypothermia is not compounding
hemodynamic instability in a pediatric trauma patient
in shock.
25.Hypotension and excessive fluid restriction should
be avoided at all costs in the child in shock with
severe head injury because such a patient is highly
sensitive to secondary brain injury from hypotension.
26. The most common finding upon the examination of a
child's genitalia after suspected sexual abuse is a
normal examination.
27. Because the size of a normal hymenal opening in a
prepubertal child can vary significantly, the quality
and smoothness of the contours of the hymenal opening,
including tears and scarring, are more sensitive
indicators of sexual abuse.
28. Palpation for an enlarged or nodular thyroid is one
of the most overlooked parts of the pediatric physical
examination in all age groups.
29. Because 20-40% of solitary thyroid nodules in
adolescents are malignant, an expedited evaluation is
needed if a nodule is discovered.
30. Unless a blood sugar level is checked, the
diagnosis of new-onset diabetic ketoacidosis can be
delayed because abdominal pain can mimic appendicitis,
and hyperventilation can mimic pneumonia.
31. Beware of syndrome of inappropriate antidiuretic
hormone secretion and possible cerebral edema if a
normal or low sodium level begins to fall with fluid

replenishment during the treatment of diabetic

32. Acanthosis nigricans is found in 90% of youth
diagnosed with type 2 diabetes.
33. Growth hormone deficiency present during the first
year of life is associated with hypoglycemia; after the
age of 5 years, it is associated with short stature.
34. Fecal soiling is associated with severe functional
35. More than 40% of infants regurgitate effortlessly
more than once a day.
36. Nasogastric lavage is a simple method for
differentiating upper gastrointestinal bleeding from
lower gastrointestinal bleeding.
37. Conjugated hyperbilirubinemia in any child is
abnormal and deserves further investigation.
38. Potential long-term complications of pediatric
inflammatory bowel disease include chronic growth
failure, abscesses, fistulas, nephrolithiasis, and
toxic megacolon.
39. Bilious emesis in a newborn represents a sign of
potential obstruction and is a true gastrointestinal
40. In patients with Down syndrome and behavioral
problems, do not overlook hearing loss (both
sensorineural and conductive); it occurs in up to two
thirds of patients with this condition, and it can be a
possible contributor to those types of problems.
41. Fluorescence in situ hybridization (FISH) is
indicated for the rapid diagnosis of trisomies 13 and

18 and multiple syndromes in children with moderate to

severe mental retardation and apparently normal
chromosomes (subtelomeric FISH probes).
42. Three or more minor malformations should raise
concern about the presence of a major malformation.
43. The diagnosis of fetal alcohol syndrome is
problematic in infants because facial growth and
development can modify previously diagnostic features
over a 4- to 6-year period.
44. Diabetes mellitus is the most common teratogenic
state; insulin-dependent diabetic mothers have infants
with an eight-fold increase in structural anomalies.
45. An infant with nonsyndromic sensorineural hearing
loss should be tested for mutations in the connexin 26
gene. Mutations in that gene contribute to at least
about 50% of autosomal recessive hearing loss and about
10-20% of all prelingual hearing loss.
46. In children <12 years old, the lower limit of
normal for the mean corpuscular volume (MCV) can be
estimated as 70 + (the child's age in years)/mm3. For a
patient that is more than 12 years old, the lower limit
for a normal MCV is 82/mm3.
47. In the setting of microcytosis, an elevated red
blood cell distribution width index suggests a
diagnosis of iron deficiency rather than thalassemia.
48. After iron supplementation for iron-deficiency
anemia, the reticulocyte count should double in 1-2
weeks, and hemoglobin should increase by 1 gm/dL in 2-4
weeks. The most common reason for persistence of iron
deficiency anemia is poor compliance with

49. Children with elevated lead levels are at increased

risk for iron deficiency anemia because lead
competitively inhibits the absorption of iron.
50. Chronic transfusion therapy to reduce sickle
hemoglobin levels to 30-40% of the total lowers the
likelihood of stroke.
51. Because 30% of patients with hemophilia have no
family history of the disorder, clinical suspicion is
important in the presence of excessive and frequent
52. Marked neutropenia (<500/mm3 absolute neutrophil
count) in a previously healthy child often heralds the
onset of overwhelming sepsis.
53. The determination of immunoglobulin G subclass
concentrations is meaningless in children who are less
than 4 years old.
54. Neutrophil deficiency should be considered in a
newborn with a delayed separation of the umbilical cord
(>3 weeks).
55. Clinical features of autoimmunity do not exclude
the diagnosis of a primary immunodeficiency.
56. A male child with a liver abscess should be
considered to have chronic granulomatous disease until
it is proven otherwise.
57. The most common congenital infection is
cytomegalovirus, which in some large screening studies
occurs in up to 1.3% of newborns, although most of
these infants remain asymptomatic.

58. Up to 25% of infants <28 days old with bacterial

sepsis and positive blood cultures will have cultureconfirmed meningitis.
59. Erythematous papules with a pale center ("doughnut
lesions") located on the hard and soft palates are
pathognomonic for streptococcal pharyngitis.
60. The red man syndrome, which is a complication of
vancomycin administration, can usually be avoided by
slowing the rate of drug infusion or by premedicating
with diphenhydramine.
61. A petechial-purpuric rash in a glove-and-stocking
distribution should raise the possibility of infection
with parvovirus B19.
62. Perinatal asphyxia accounts for less than 15% of
cases of cerebral palsy.
63. Because primary and secondary apnea are
indistinguishable in newborns, the initial clinical
response should be identical in the delivery room.
64. Hyperbilirubinemia is generally not an indication
for the cessation of breast-feeding but rather for
increasing its frequency.
65. Sepsis is in the differential diagnosis of
virtually every neonatal sign and symptom.
66. Breast feeding lowers the risks of necrotizing
enterocolitis and nosocomial sepsis.
67. Ten percent of febrile infants with documented
urinary tract infections have normal urinalyses; this
emphasizes the importance of obtaining a urine culture
if clinical risk factors are present.

68. Vigorous correction of constipation has been shown

to diminish both enuresis and the frequency of urinary
tract infections.
69. Chromosomal and endocrinologic evaluation should be
done if testes are bilaterally undescended and
nonpalpable or one or two testicles are undescended
with hypospadias present.
70. In patients with acute renal failure, the
measurement of urinary indices (urine sodium
concentration, fractional excretion of sodium, urine
specific gravity, and osmolality) should be done before
initiating any therapy to help distinguish between
prerenal, renal, and postrenal etiologies.
71. The two most productive facets of patient
evaluation to explain renal disease as a possible cause
of symptoms are as follows:
*The measurement of blood pressure and;
*The examination of the first morning void after the
bladder is emptied of urine stored overnight (when a
specimen is most likely to be concentrated).
72. The most common cause of persistent seizures is an
inadequate serum antiepileptic level.
73. Antiepileptic drugs in tablet and capsule form
produce less variation in blood concentrations than
liquid preparations, particularly suspensions, do.
74. Resist polypharmacy: three or more medications have
not been shown to improve seizure control as compared
with one or two drugs, and side effects and compliance
become much more problematic.

75. The diagnosis of cerebral palsy is rarely made at

<1 year old because neurologic findings in infancy are
subject to significant change.
76. Migraine headaches are usually bilateral in
children but unilateral (75%) in adults.
77. Seizures with fever in patients older than 6 years
of age should not be considered febrile seizures.
78. Children with fever and neutropenia must continue
to receive broad-spectrum antibiotics until definitive
signs of marrow recovery are documented, typically with
the presence of a peripheral monocytosis and an
absolute neutrophil count >200/mm3 and rising.
79. Empiric antifungal agents are administered to
children with neutropenia who remain febrile or develop
new fever within 3 to 7 days of starting broad-spectrum
antibiotics because the risk of invasive fungal
infection increases with the duration and depth of
80. After age and white blood cell count, early
response to therapy is the most important prognostic
feature for children with acute lymphoblastic leukemia.
81. Leukemias and lymphomas that have a high
proliferation and cell turnover rate (e.g., Burkitt's
lymphoma, T-cell lymphoblastic leukemia) place patients
at the highest risk of complications from tumor lysis
82. Eighty percent or more of patients who present with
acute lymphoblastic leukemia have a normochromic,
normocytic anemia with reticulocytopenia.
83. Because it changes more quickly as inflammation
changes, C-reactive protein is better than

sedimentation rate for monitoring the response to

therapy in patients with osteomyelitis.
84. Pseudoparalysis (with decreased arm or leg
movement) with no systemic illness may be a presenting
sign in an infant with osteomyelitis.
85. Back pain is atypical for scoliosis and may point
to another diagnosis.
86. Consider magnetic resonance imaging for patients
with scoliosis and the less common left-sided thoracic
curves because 5-7% of these patients can have
intraspinal abnormalities (e.g., hydromelia).
87. A plain x-ray is unreliable in the diagnosis of
developmental dysplasia of the hip in infants less than
6 months of age because ossification of the femoral
head is incomplete.
88. Older children with unexplained unilateral
deformities (e.g., pes cavus) of an extremity should
have screening magnetic resonance imaging to evaluate
for intraspinal disease.
89. Asthma rarely causes clubbing in children. Consider
other diseases, particularly cystic fibrosis.
90. Most children with recurrent pneumonia or
persistent right middle lobe atelectasis have asthma.
But all that wheezes is not asthma.
91. Home peak flow monitoring is most helpful in those
asthmatic patients with very labile disease or poor
symptom recognition.
92. A normal respiratory rate strongly argues against a
bacterial pneumonia.

93. Upper lobe pneumonias with radiation of pain to the

neck can cause meningismus and mimic appendicitis;
lower lobe pneumonias can present with abdominal pain.
94. Nasal polyps or rectal prolapse in children
suggests cystic fibrosis.
95. The three most common causes of anaphylaxis in
pediatric hospitals and emergency departments are
latex, food, and drugs. Suspected allergies to
shellfish, peanuts, and nuts warrant a prescription for
an epinephrine pen because of the increased risk of
future anaphylaxis.
96. Up to 10% of normal, healthy children may have lowlevel (1:10) positive-antinuclear antibody (ANA)
testing that will remain positive. Without clinical or
laboratory features of disease, it is of no
97. The daily spiking fevers of systemic juvenile
rheumatoid arthritis can precede the development of
arthritis by weeks to months.
98. Antistreptolysin O antibodies are positive in only
80% of patients with acute rheumatic fever. Test for
anti- DNase B antibodies to increase the likelihood to
more than 95% when diagnosing a recent group A betahemolytic infection.
99. Because up to 10% of patients can have asymptomatic
Borrelia burgdorferi infection and because both
immunoglobulin M and immunoglobulin G antibodies to B.
burgdorferi can persist for 10-20 years, the diagnosis
of Lyme disease in older children and adolescents can
be tricky in patients with atypical clinical

100. Abdominal pain (mimicking an acute abdomen) and

arthritis can frequently precede the rash in HenochSchnlein purpura disease and thus confuse the