Uw - Elseby Notes Pediatrics

Pediatrics
Routine Management of the Newborn
(1) Physical examination once the child is delivered

Mouth and nose are suctioned
Clamping and cutting of the umbilical cord.
Dry the infant and keep warm from an environment of 98.6° F to approximately 65° F.
Gentle rubbing or stimulating the heels of the newborn helps to stimulate crying and breathing.
Intubation and ABG analysis of the child are indicated only if the newborn is not breathing or is in
respiratory distress.
Nasogastric tube placement is indicated when GI decompression is needed.
Antibiotics are indicated for sepsis.
Normal Vital Signs in a Newborn

Respiratory rate (RR) of 40 to 60 breaths per minute (BrPM)
Heart rate (HR) of 120 to 160 beats per minute (BPM)
(2) Apgar score: Newborn Assessment

The Apgar score delineates a quantifiable measurement for the need and effectiveness of
resuscitation. The Apgar score does not predict mortality.
One-minute score evaluates conditions during labor and delivery.
Five-minute score evaluates the response to resuscitative efforts.
A low score on the Apgar is not associated with future cerebral palsy.
Scores > 7 requires NO further evaluation or resuscitation.

Scores < 7 may require further evaluation and resuscitation.
If HR > 60 → Pulse oximetry monitoring and positive-pressure ventilation
If HR > 60 → Chest compressions should be performed.
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(3) Eye Care
Hemorrhagic disease of the newborn
(4) Screening Tests (after 48 hours)

Hearing test: excludes congenital sensory-neural hearing loss. Necessary for early detection to
maintain speech patterns and assess the need for cochlear implantation.
The total diseases screened are determined by the individual state. Some examples:
• Phenylketonuria
• Tyrosinemia
• 21-hydroxylase deficiency
• Galactosemia
• Hb SS
• Hb C
• Hypothyroidism
• Cystic fibrosis
Abnormalities in Newborn
Figure Description Diagnosis Association Management
Blue/gray blanching Mongolian spots Usually fade in first Reassurance
macules on presacral few years Rule out child
back/ posterior thighs abuse and
due to entrapment of coagulopathy if
the melanocytes in the no blanching
dermis tender varying
in color
Firm, yellow- white Erythema Eosinophils in the Self-limited
papules/ pustules with toxicum skin lesions. Spare Reassurance
blanching palm and sole
erythernatous base,
which peak on second
spares day of life
Small pearly white Milia Self- limited
cysts, and are distinct
from the rash of
erythema toxicum.
Sebaceous hyperplasia Neonatal acne High maternal Self-limited
present as little androgen
yellowish papules and
are found on the face.
Permanent unilateral Port wine stain Sturge-Weber Pulsed laser

Vascular malformation (nevus flammeus) Syndrome (AV therapy
on head and neck malformation that
results in seizures, For Sturge-
mental retardation Weber
and glaucoma) evaluate for
glaucoma and
give anti-
convulsive
Red, sharply Hemangioma Consider underlying Treat with

demarcated raised organ involvement steroids or
lesions appearing in with deep pulsed laser if
first 2 months, rapidly hemangiomas (if it large interferes
expanding, then involves the larynx, with organ
involuating by age 5-9 it can cause function
years obstruction)
May cause high
output cardiac failure
when large
Preauricular tags/ pits Preauricular tags/ Hearing loss Hearing test
pits Genitourinary Ultrasound of
abnormalities kidneys
Absence of the iris Aniridia WAGR. Wilms Screen for
tumor, Aniridia, Wilms
genitourinary tumor with abd
malformations, and ultrasound from
mental retardation 3 months until
age 8 treated
Bilateral Wilims → with total
unilateral nephrectomy
nephrectomy + +chemotherapy
partial contralateral +radiotherapy
nephrectomy
Defect in the iris Coloboma of the Other eye Screen for
iris abnormalities CHARGE
CHARGE syndrome syndrome
(Coloboma, Heart
defects, Atresia of
the nasal choanae,
growth Retardation,
Genitourinary
abnormalities, and
Ear abnormalities)
Mass lateral to midline Branchial cleft Remnant of Infected cysts:
cyst embryonic Give antibiotics
Development
associated with Surgical
infections removal if large
Mass in midline that Thyroglossal duct Associated with Surgical
moves with cyst Infections May have removal
swallowing thyroid ectopia Thyroid scans
or tongue protrusion and thyroid
function test
preoperatively
Gl tract protrusion Omphalocele Malformations, ↑AFP level- US
through the umbilicus chromosomal Screen for
with sac (failure of Gl disorders trisomy
sac to retract at 10-12 13, trisomy 18,
weeks gestation) and trisomy 21
surgical
correction
Abdominal defect lat Gastroschisis Intestinal atresia
to midline without sac
1-Sterile wrapping of 2-inserting an 3- intravenous access 4- surgical

exposed bowel to orogastric tube (to (to provide fluids), correction with
minimize heat and decompress the and administration of silastic “silo”
fluid losses. stomach) broad-spectrum gradual not
antibiotics. aggressive
introduction to
prevent
infarction
Congenital weakness Umbilical hernia Congenital May close
where vessels of the hypothyroidism Spontaneously
fetal and infant Screen with TSH by age of 3.
umbilical cord exited surgical
through the rectus intervention if
abdominis muscle 1-enlarges
progressively
after age of 1 to
2 years.
2-persists to the
age of 3-4 years
3-exceeds 1.5
Cm
4- strangulated
Painless scrotal Hydrocele Inguinal hernia Differentiate
swelling, If appeared after from inguinal
transillumination trauma do Doppler hernia
(Remnant of tunica Ultrasound to rule Resolve within
vaginalis) out hematocele or 12 months
testicular torsion (reassurance
and
observation)
Inguinal Inguinal hernia Surgery
bulge/Inguinal hernia (indirect)
reducible scrotal
swelling
Unilateral absence of Cryptorchidism Associated with No treatment
testes in scrotal sac malignancy if > 1 until 1 year of
usually present in year of age age
ingunal canal 1.Hormone
injections
CP-hCG or
testosterone)
(2) Surgery
orchiopexy
Urethral opening on Hypospadias Other GU anomalies Do not

ventral surface may be present circumcise
(most common is Surgical
undescended testes correction
and
Inguinal hernias).
Urethral opening on Epispadias Urinary incontinence Surgical

dorsal surface (form of urinary evaluation for
exstrophy) bladder
extrophy
Neonatal rash
Erythema toxicum Neonatal HSV SSSS
Umbilical abnormalities
Umbilical polyp
It is a rare anomaly resulting from persistence of omphalomesenteric duct or urachus. The
tissue of the polyp is firm and resistant, bright red, and has a mucoid secretion.
Treatment is surgical excision of the entire omphalomesenteric or urachal remnant.
Umbilical granuloma
Congenital umbilical hernia
Gastroschisis
Scrotal abnormalities
Indirect inguinal hernia
Hydrocele
Cryptorchidism
Exstrophy of the Urinary Bladder

This is an abdominal wall defect over the pubis.
Transfer the patient to a specialized center that offers surgical repair in first 1–2 days of life. Do
not delay surgery.
Hypospadias
With hypospadias, the opening of the urethra is found on the ventral surface of the penis.
High association with cryptorchidism and inguinal hernias
Needs surgical correction
Circumcision contraindicated due to difficulties in surgical correction of the hypospadias
Epispadias
With epispadias, the opening to the urethra is found on the dorsal surface.
High association with urinary incontinence
Must evaluate for concomitant bladder exstrophy
Needs surgical correction
Circumcision
Neonatal tetanus
It is generally seen in infants born to unimmunized mothers, frequently following umbilical stump
infection. Affected infants initially present in the first two weeks of life with poor suckling and
fatigue, followed by rigidity, spasms and opisthotonus. Mortality is very high due to apnea (in the
first week of life) and septicemia (in the second week)
Delivery-Associated Injury in the Newborn
Subconjunctival Hemorrhage
Minute hemorrhages may be present in the eyes of the infant due to a rapid rise in intrathoracic
pressure as the chest is compressed while passing through the birth canal. No treatment is
indicated.
Intracranial hemorrhage
Classically presents as periods of apnea. pallor or cyanosis. poor suckling. abnormal eye signs.
high-pitched cry. muscular twitching. convulsions. Decreased muscle tone or paralysis. decreased
hematocrit. metabolic acidosis. and shock. Fontanels may be tense and bulging. Swelling of the
scalp does not occur.
Scalp Injuries
Caput succedaneum
Cephalohematoma
Subgaleal bleeding
Clavicular fracture
Prematurity (< 30 weeks gestation)/ weight < 1.5 Kg
Complications
• Anemia of prematurity
• Intraventricular hemorrhage (bleeding in the germinal matrix)
It occurs due to capillary fragility of the subependymal germinal matrix and immature
auto regulation of cerebral blood flow.
Risk factors
• Prematurity
• LBW infants
Presentation
Patients may present with pallor, cyanosis, hypotension, seizures, focal neurologic signs,
bulging or tense fontanel, apnea and bradycardia, metabolic acidosis and a decreased
hematocrit; however, many cases remain asymptomatic.
Complications
It may be complicated with communicating hydrocephalus, neurodevelopment disability
(cerebral palsy).
Screening
Screening with serial head U/S for all newborns with predisposing risk factors.
Prevention
It can be prevented by prevention of preterm labor and antenatal administration of
maternal corticosteroids
Small for gestational age infants
Polycythemia → increased erythropoietin secretion in response to fetal hypoxia.

Hypoglycemia → decreased glycogen stores.
Hypothermia → decreased subcutaneous fat and therefore impaired thermoregulation.
Hypocalcemia → decreased transfer of calcium across the placenta.
Transient Conditions of the Newborn
Transient Polycythemia of the Newborn
Diagnosis
Treatment
Transient Hyperbilirubinemia
Over 60% of all newborn infants are jaundiced. This is due to the infant's spleen removing excess
red blood cells that carry Hgb F. This excess breakdown of RBCs leads to a physiological release
of hemoglobin and in turn a rise in bilirubin.
Transient breast enlargement
Transient weight loss

Healthy, full term, and appropriate for gestational age infants may lose up to 10% of their birth
weight in the first week of life. The birth weight should be regained by 10 days of life. Encourage
the parents to continue the current feeding regimen
Respiratory distress of the newborn
Periodic breathing
Apnea of prematurity
Best initial diagnostic test: Chest x-ray (differentiate between all)
Other diagnostic studies:
- ABG
- Blood cultures (sepsis)
- Blood glucose (hypoglycemia)
- CBC (anemia or polycythemia)
- Cranial ultrasound (intracranial hemorrhage)
Best initial treatment:

- Oxygen: Keep Sa02 > 95 percent.
- Give nasal CPAP if high 02 requirements to prevent barotrauma and bronchopulmonary
dysplasia.
- Consider empiric antibiotics for suspected sepsis.
When hypoxia does not improve with oxygen therapy, evaluate the patient for cardiac
causes of hypoxia (i.e. congenital heart defects).
Persistent pulmonary hypertension of the newborn (PPHN)
Persistent pulmonary hypertension (PPH)
Transient Tachypnea of the Newborn (TTN)
If tachypnea lasts more than 4 hours, it is considered sepsis and must be evaluated with blood and
urine cultures.
Lumbar puncture with CSP analysis and culture is done when the newborn displays neurological
signs such as irritability, lethargy, temperature irregularity, and feeding problems.
Respiratory Distress Syndrome (RDS) Hyaline membrane disease
Risk factors
• Increase risk
• Decrease risk
Presentation
Diagnostic Testing
Best initial tests: Chest x-ray (ground-glass appearance), atelectasis, air bronchograms
Best predictive test: Lecithin-sphingomyelin (L/S) ratio on amniotic fluid prior to birth
Treatment
Possible complications:
Retinopathy of prematurity (ROP) (hypoxemia)
Bronchopulmonary dysplasia (prolonged high-concentration oxygen): Prevent with CPAP. Treated

with furosimide → volume depletion
Intraventricular hemorrhage
Give corticosteroids immediately to any fetus in danger of preterm delivery < 34 weeks.
Prognosis
Meconium Aspiration
It presents with respiratory distress and hypoxemia in a post-term neonate with hypoxia or fetal
distress in utero. (Meconium passed may be aspirated in utero or with the first postnatal breath.)
Diagnostic Testing
Treatment
Positive pressure ventilation
High-frequency ventilation
Nitric oxide therapy
Extracorporeal membrane oxygenation
Prevent by performing an endotracheal intubation and airway suction of depressed infants.
Possible complications:
Pulmonary artery hypertension
Air leak (pneumothorax, pneumomediastinum)
Aspiration pneumonitis
Prognosis
Congenital Diaphragmatic Hernia
Treatment
Gastrointestinal disorders of the newborn
Necrotizing enterocolitis
Jaundice in the newborn
• Breast feeding
• Phototherapy
• Exchange transfusion
• Kernicterus
The most feared complication of jaundice results from elevated indirect (unconjugated) bilirubin,
which can cross the blood brain barrier, deposit in the basal ganglia and brainstem nuclei.
It presents with hypotonia, seizures, opisthotonos, delayed motor skills, choreoathetosis, and
sensorineural hearing loss. Management is immediate exchange transfusion.
When is hyperbilirubinemia considered pathological?
• It appears on the first day of life.
• Bilirubin rises > 5 mg/dl/day.
• Bilirubin > 12 mg/dl in term infant.
• Direct bilirubin > 2 mg/dl at any time.
• Hyperbilirubinemia is present after the 2nd week of life
Diagnostic Testing
• CBC, reticulocyte count, and blood smear: Assess for hemolysis.
• Total and direct bilirubin
• Direct Coombs test
• Blood type of infant and mother: Look for ABO or Rh incompatibility.
• Urinalysis and urine culture if elevated direct bilirubin: Assess for sepsis
Indirect hyperbilirubinemia
• Physiological jaundice:
Timing: after 24 hours of birth
It caused due to ↓ hepatic uridine diphosphogluconurate glucuronosyltransferase.
➢ With anemia
1- Positive coombs test
• Alloimmune hemolytic
Timing: within 24 hours of birth
ABO incompstibility
RH incompatibility
2- Negative coombs test
• G6PD (No splenomegaly)
Hereditary spherocytosis (Splenomegaly)
➢ Without anemia
Breast feeding jaundice
Treatment
Breast milk jaundice
Treatment
Gilbert's syndrome Crigler-Najar Type 1 Crigler-Najar Type 2
UDP-glucuronyl ↓ Total absence Total absence

transferase
Unconjugated Mild Bilirubin >20 Bilirubin < 20
hyperbilirubinemia Normal CBC - smear
Symptoms Jaundice with stress, Neurological No neurological
infection and fasting
Treatment No treatment is Phototherapy, Phenobarbital
required Plasmapharesis, and
liver transplant
Direct hyperbilirubinemia
• Galactosemia
• Dubin-johnson syndrome
• Choledochal cysts (biliary cysts)
Type 1: Fusiform dilation of the common bile duct (Most common type)
Type 2: Saccular diverticula of the common bile duct
Type 3: Cyst of intraduodenal part of common bile duct.
Type 4: Multiple cysts the intra and extra hepatic ducts.
Type 5: Isolated cysts of intrahepatic ducts (caroli disease).
• Biliary atresia
Neonatal Sepsis
Treatment (after cultures are obtained)
Neonatal Seizures
Seizures classically present with subtle repetitive movements, such as chewing, tongue thrusting,
apnea, staring, blinking, or desaturations. Classic tonic-clonic movements are uncommon. Look
for ocular deviation and failure of jitteriness to subside with stimulus (e.g., passive movement of a
limb).
Diagnostic Testing
CBC, electrolytes, calcium, magnesium, phosphorous, glucose (hypoglycemia is a common cause
of seizures in infants of diabetic mothers)
EEG: May be normal
Amino acid assay and urine organic acids to detect inborn errors of metabolism and pyridoxine
deficiency
To look for infectious causes, perform the following:

- TORCH infection studies: Total cord blood IgM for screening
- Blood and urine cultures
- Lumbar puncture if meningitis is suspected
Ultrasound of head in preterms to look for intraventricular hemorrhage

- Intracranial hemorrhage causes seizures typically 2-7 days after birth
Treatment
Phenobarbital is the initial drug of choice.
If seizures persist, use phenytoin.
Correct electrolyte abnormalities.
TORCH Infections Summary
Many of the TORCH infections have similar presentations characterized by microcephaly,
hepatosplenomegaly, deafness, chorioretinitis, and thrombocytopenia.
The following table highlights the distinguishing features to look for in the exam.
Infection Presentation Diagnostic tests Treatment

Toxoplas Hydrocephalus, Chorioretinitis, and Best initial →↑ lgM to Pyrimethamine
mosis intracranial calcifications toxoplasma and
multiple ring-enhancing sulfadiazine
lesions on CT caused by Most accurate → PCR for
toxoplasma gondii. toxoplasma
CMV Microcephaly, chorioretinitis, Best initial →urine or saliva Ganciclovir
Periventricular calcifications, viral titers prevent SNHL
hearing loss, and petechiae with but don’t cure
thrombocytopenia. Most accurate →urine or infection
saliva PCR for viral DNA.
Syphilis Early → Non immune hydrops Best initial → VDRL or Penicillin G
fetalis, anemia, thrombocytopenia, RPR
hepatosplenomegaly, periostitis,
osteochondritis, and metaphyseal Most accurate→ FTA ABS,
dystrophy. TPPA or dark field
Rash on the palms and soles, microscopy.
Snuffles (purulent rhinitis)
Late → frontal bossing, Hutchinson
eighth nerve palsy, and saddle nose,
saber shin
Varicella Neonatal: pneumonia Best initial → IgM serology VariZIG and
Congenital: Zigzag lesions, limb IV acyclovir
hypoplasia, microphthalmia, Most accurate→ PCR of Maternal
cataract, chorioretinitis, cutaneous amniotic fluid varicella only
scars, seizures, Mental retardation. VariZIG
Rubella PDA, cataracts, deafness, Maternal lgM status along Supportive
thrombocytopenia, blueberry muffin with clinical diagnosis. prevented by
rash (extra medullary MMR
hematopoiesis), and vaccination
hyperbilirubinemia
Zika Microcephaly, sensory neural Best initial →↑ lgM to Zika
hearing loss, facial disproportion, virus
hypertonia, seizures
Most accurate → PCR
Herpes Week 1: pneumonia, shock and DIC Best initial →Tzanck Acyclovir and
Week 2: vesicular skin lesions smear supportive care
Week 3: meningoencephalitis Most accurate → PCR prevented by
CS delivery
Congenital toxoplasmosis
Congenital rubella
Congenital syphilis
Neonatal Herpes simplex
HIV
Prevention
Disclosure of HIV status to school ??
Immunizations
Active immunizations after exposure
Specific routine vaccinations
Rota vaccine
DPT vaccine:
MMR:
Influenza vaccine:
Hepatitis B vaccine
Varicella-zoster vaccine
Acyclovir is the treatment of choice for active varicella infection.
Substance Abuse and Neonatal Withdrawal
Neonatal complications Obstetric complications

• Low birth weight • Sexually transmitted diseases
• Intrauterine growth restriction (IUGR) • Toxemia
• Congenital anomalies (alcohol, cocaine) • Breech
• Sudden infant death syndrome (SIDS) • Abruption
• Intraventricular hemorrhage (cocaine
use)
Teratogenesis and the Effect of Drugs on the Neonate
Growth, Nutrition, and Development
Best indicator for acute malnutrition is weight/height < 5th percentile.
Best indicator for under- and overweight is BMI.
Skeletal maturity is related to sexual maturity (less related to chronologic age).
The most common cause of failure to thrive in all age groups is psychosocial deprivation.
All cases of underfeeding must be reported to child protective services (CPS).
You must work up any child who has crossed 2 major growth percentiles.
Head circumference
Breastfeeding
Drugs, as shown in the following table:
High-Yield Developmental Milestones
Walking
Disorders of speech
Reflexes
Dental caries
Behavioral Disorders
Enuresis
Primary nocturnal enuresis
Work up
Enuresis alarm
Desmopressin
Tricyclic antidepressant
Secondary enuresis
If a child shows reluctance to potty training, the best step is to stop training attempts for several
months and allow the child to become interested on his own.
Encopresis
Encopresis is the unintentional or involuntary passage of feces in inappropriate settings, such as
into clothing or onto the floor, in children > 4 years (the age by which most children control bowel
movements).
Diagnostic Testing
Best initial test: Abdominal x-ray. This distinguishes between retentive (most common; associated
with constipation and overflow incontinence) and nonretentive (associated with abuse).
Do not miss uncommon causes: Hirschsprung disease, anal fissure, ulcerative colitis, or spinal
cord abnormalities.
Treatment
Best initial therapies:
- Retentive encopresis: Disimpaction, stool softeners, and behavior intervention
- Nonretentive encopresis: Behavior modification alone
All children with recurrent episodes of nocturnal vulvar itching should be examined for pinworms
using the 'Scotch tape' test and treated empirically with mebendazole.
Child Abuse
Factors that may indicate child abuse include but are not limited to the following
1. Patterned scalds and burns indicative of forceful immersion or the use of a hot object such as a
cigarette or curling iron
2. Incoherent or improbable explanation of the injuries
3. Delay in seeking care after the injury
4. Fractures of the long bones or ribs, fractures in various stages of healing
5. Bruising on areas other than those overlying bony prominences
6. Suspicious bruises include those on the thighs, abdomen, cheeks and genitalia
7. Patterned bruising such as loops from a cord or belt or imprints of a hand
8. Subdural hematoma and retinal hemorrhages in very young infants (shaken baby)
9. Inappropriate affect of the caregiver
10. Intentional immersion injury include any burns to the back or buttocks and uniform erythema
with a clear line of demarcation, spare flexure surfaces, uniform burn depth, and no splash marks
(irregular blind patterns)
In any case of suspected child abuse, the physician should do the following:
1. Admit the patient to ensure their safety
2. Perform a thorough physical examination and obtain a radiographic skeletal survey in order to
identify and document any signs of abuse.
3. Report the case to child protective services
Diagnostic Testing
Laboratory studies: PT, PTT, platelets, bleeding time, CBC (coagulation studies are the first to
be done even before hospitalization or call child protective service)
Skeletal survey
If severe injuries (even with no neurological signs), perform the following:
- Head CT scan ± MRI
- Ophthalmologic examination
If abdominal trauma, perform the following:

- Urine and stool for blood
- Liver and pancreatic enzymes
- Abdominal CT scan
Urine toxicology screen, especially if the case describes altered mental status
Treatment
1. The first step is always to address medical and/or surgical issues.
2. Then report any child suspected of being abused or neglected to child protective services
(CPS). Initial action includes a phone report; in most states, a written report is then required within
48 hours.
The following are indications for hospitalization:

Medical condition requires it.
Diagnosis is unclear.
There is no alternative safe place.
If parents refuse hospitalization or treatment, the physician must get an emergency court order.
You must explain to the parent why an inflicted injury is suspected abuse, that you are legally
obligated to report it, that you have made a referral to protect the child, and that a CPS worker and
law enforcement officer will be involved.
Sexual behavior
Normal sexual behaviors for young children (ages 2-5) include
Talking about genitals or reproduction.
Occasional masturbation.
Transient cross-dressing is often common in preschool boys.
Enjoying being naked, and curiosity about their own and other people's body parts.
They may play "doctor" with each other or compare their bodies with other children's bodies.
Concerning sexual behaviors in young children which could be indicators of sexual abuse include
extensive sexual knowledge. Preoccupation with masturbation. Excessive talk about sexuality.
Simulating foreplay or intercourse. Genital-genital penetration, oral- anal sex.
Cardiology
Congenital Heart Disease (CHD)
Because functional closure of the ductus arteriosis may be delayed in CHD:

CHDs that rely on the ductus will present within 1 month
Infants with left-to-right shunting lesions will present at 2-6 months of age
Consider CHD in any child presenting with the following:

Shock, tachypnea, cyanosis (especially if fever is absent): Note that cyanosis and hypoxemia
classically do not respond to oxygen as is seen in pulmonary conditions.
Infants: Feeding difficulty, sweating while feeding, rapid respirations, easy fatigue
Older children: Dyspnea on exertion, shortness of breath, failure to thrive
Abnormalities on exam:
- Upper extremity hypertension or decreased lower extremity blood pressures
- Decreased femoral pulses (obstructive lesions of the left side of the heart)
- Facial edema, hepatomegaly
- Heart sounds: Pansystolic murmur, grade 3/6 murmurs, PMI at upper left sternal border, harsh
murmur, early midsystolic click, abnormal S2
Because sepsis and CHD present very similarly, begin antibiotic therapy at the same time as
workup for CHD
Diagnostic Testing
Best initial tests: Chest x-ray and EKG.
Most accurate test: Echocardiography (less invasive)

May done before surgery: catheterization
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Acyanotic Lesions
Ventricular Septal Defect
VSD is the most common congenital heart lesion.
Associated with Patau, Edward, and Down (aneuploidy)
Presentation
1- Small VSD → Asymptomatic + harsher murmur

2- Large VSD → Softer murmur + dyspnea with respiratory distress, failure to thrive, easy
fatigability, and right heart failure (left → right shunt →↑ pulmonary circulation)
High-pitched holosystolic murmur over lower left sternal border +/- thrill plus diastolic flow
murmurs at the apex (↑ flow across mitral valve). Loud pulmonic S2
Shunt determined by PVR/SVR
Diagnostic Tests
Chest x-ray shows increased vascular markings.
Echocardiogram is diagnostic → RV hypetrophy if Eisenmenger syndrome developed.
Treatment
Surgical intervention (Cardiac catheterization is required before surgery)

• Large VSD – uncontrolled clinical symptoms – CHF – supracristal VSD - pulmonary
HTN (6 – 12 months)
• Children > 2 years with PVR:SVR > 2:1
Diuretics and digoxin can be used for more conservative treatment of CHF.
Complications
Congestive heart failure (CHF), endocarditis, and pulmonary hypertension
2
Atrial Septal Defect
ASD is a hole in the septum between both atria that is twice as common in women as in men.
There are 3 major types of ASD:
1. Primum defect: concomitant mitral valve abnormalities
2. Secundum defect:most common and located in the center of the atrial septum
3. Sinus venosus defect: least common
Associated with Down syndrome
Presentation
Diagnostic Tests
Chest x-ray (CXR) → increased vascular markings and cardiomegaly
ECG → right axis deviation and RVH
Echocardiography is the most accurate test.
Treatment
Vast majority close spontaneously
Surgery or transcatheter closure is indicated for all symptomatic patients or 2:1 shunt
Complication
Dysrhythmias and possible paradoxical emboli from DVTs later in life
MVP and Pulmonary hypertension
3
Complete Atrioventricular canal septal defect (endocadrial cushions)
Diagnosis
Chest x ray →cardiomegaly - ↑ pulmonary artery
EKG → superior QRS axis – biventricular hypertrophy
ECHO → the most accurate
Complication
Without surgery → early tendency of pulmonary hypertension and heart failure
With surgery → arrhythmia and congenital heart block
Treatment
Supportive treatment with diuretics and inotropes
Perform surgery in infancy before pulmonary hypertension develops.
4
Patent Ductus Arteriosus (PDA)
PDA is defined as the failure of spontaneous closure of the ductus. It usually closes when P02
rises above 50 mm Hg. Low P02 can be caused by pulmonary compromise due to prematurity.
Areas of high altitude have an increased occurrence of PDA due to low levels of atmospheric
oxygen. PDA is a normal finding in the first12 hours of life. After 24 hours it is considered
pathologic. Associated with congenital rubella syndrome and char syndrome
Presentation
"Machinery"-like murmur
Wide pulse pressure

Bounding pulses
A high occurrence of respiratory infections and infective endocarditis is the most common
complication later in the child's life.
Diagnostic Tests
Chest x ray → cardiomegaly - ↑ pulmonary artery
EKG →LVH secondary to high systemic resistance.
ECHO → the most accurate
Treatment
Give indomethacin (NSAID inhibits prostaglandins) to close the PDA unless it is needed to live
in concurrent conditions such as TOF.
Term infant or large lesion usually requires surgical closure (ligation) or percutaneous placement
of coils in PDA.
Prognosis
Complications of unrepaired patent ductus arteriosus (PDA) include infective endocarditis,
pulmonary hypertension, and heart failure. Antibiotic prophylaxis is not recommended for
unrepaired PDA unless it is accompanied by pulmonary hypertension and/or Eisenmenger
syndrome.
5
Coarctation of the Aorta
It has a frequent association with Turner (is the most common cause of primary amenorrhea.
Diagnosis is confirmed by karyotype analysis).
Primary treatment is surgical resection of the narrowed segment and then balloon dilation if
recurrent stenosis occurs.
Diagnostic Tests
Rib notching (dilatation of the collateral chest wall vessels) and a "3" sign on chest x-ray
EKG → left ventricular hypertrophy
ECHO → the most accurate test.
6
Disease Aortic stenosis Pulmonary stenosis
Symptoms Infant → left ventricular heart failure May be asymptomatic or may

result in severe right congestive
Children → Angina – syncope – heart failure and hepatomegaly
chest pain - dizziness Cyanosis is due to right-to-left
shunting at patent foramen ovale
(critical PS in neonate)
Early systolic ejection click at apex Early systolic ejection murmur
of left sternal border radiate to neck
Chest x ray Prominent ascending aorta Poststenotic dilation of pul artery

ECG Left ventricular hypertrophy Right ventricular hypertrophy
(depends on severity of PS)
Tall, spiked P waves
Most accurate ECHO ECHO
Treatment 1- Balloon valvuloplasty 1- Balloon valvuloplasty
2- surgery on valve 2- critical PS in neonate →
3- valve replacement + anticoagulant emergent surgery
(last resort)
Association Willims syndrome (Supraventricular Alagille – Noonan – Fallot -
aortic stenosis) Mutations of Jagged 1 gene
7
Cyanotic Lesions
Cyanosis
↓ Pulmonary Flow ↑ Pulmonary Flow (HF)
Single S2 Gallop heart Normal sound Single S2
Tricuspid A/ S (lt axis) Ebstain TAPVC TGA (Holosystolic)

Pulmonary A/S (lt axis) TA (Ejection Systolic)
TOF (Rt axix/ PS Murmur) Hypo (No Murmur)
Normal heart / Lt Axis
↓ Pulmonary Flow
Diagnosis TOF Tricuspid Atresia Pulmonary A/S Ebstain
Clinically Single S2 Single S2 Single S2 Gallop sounds (HF)
PS/VSD Murmur VSD Murmur VSD Murmur VSD Murmur
CXR Boot shaped Heart Normal heart Normal heart Cardiomegaly
(Rt vent hypertrophy)
ECG Rt axis deviation Lt axis deviation Lt axis deviation Rt axis deviation
(Rt vent hypertrophy) Peaked P wave Peaked P wave Peaked P wave
Association Down Down syndrome Lithium
DiGeorge Maternal DM
Congenital rubella
Family H/o CHD
↑ Pulmonary Flow
Diagnosis TGA Truncus Arteriosus Hypoplastic lt Heart TAPVC

Clinically Single S2 Single S2 Single S2 Normal heart sound
Holosystolic Ejection systolic No Murmur RD
(+/- VSD) (Truncal valve) Heart failure
CXR Narrow mediastinum Cardiomegally Globular heart ↑ SVC, Supracardiac
(Egg on string) heart (Snow man sign)
ECG Normal Right axis deviation Right axis deviation
(rt vent hypertrophy) (rt vent hypertrophy)
Peaked P wave
Association DiGeorge
8
Tetralogy of Fallot
The most common cyanotic heart defect in children characterized by:
Overriding aorta
Pulmonary stenosis (single S2) → prognostic factor (RVOT obstruction).
Right ventricular hypertrophy
Ventricular septal defect (VSD)
Presentation
Cyanosis of the lips and extremities (dependent on right ventricular outflow obstruction)
Harsh crescendo-decrescendo systolic murmur best heard at the left lower sternal border (PS)
Knee – chest position and Squatting after exertive activities causes increased systemic vascular
resistance → ↓ the right-to-left shunting → ↑ pulmonary blood flow, ↑ blood oxygen saturation
and ↑ the intensity of systolic murmur due to ↑ blood flow across the right ventricular outflow
tract.
According to degree of right ventricular outflow obstruction

Severe → profound cyanosis and hypoxemia at neonatal period
Moderate → hypercyanotic “tet” spells in infancy or childhood
Minimal → heart failure in childhood or adulthood
Complication
< 2 years → embolic stroke – cerebral thrombosis
> 2 years → cerebral abscess
Diagnostic Tests
Chest x-ray showing a boot-shaped heart and decreased pulmonary vascular marking
EKG → right axis deviation (RVH)
Treatment
Knee-chest position → increased systemic vascular resistance
Morphine → relax the patient
Give oxygen → pulmonary vasodilation (↓ pulmonary vascular resistance) and systemic VC
IV fluid → ↑ preload – RV filling and pulmonary flow
Surgical intervention at 4-12 months is the only definitive therapy.
9
Transposition of the Great Vessels
It is commonly seen in infants of diabetic mothers and in males.
Presentation
No murmur because the foramen ovale and ductus arteriosus have closed unless VSD is present
(holosystolic # crescendo-decrescendo systolic murmur in fallot).
Diagnostic Tests
Chest x-ray will show an "egg on a string." pulmonary over-circulation.
Echocardiography confirms the diagnosis
Treatment
NSAIDs (especially indomethacin) are contraindicated because they will cause closure of the
ductus.
Two separate surgeries are necessary; however, each surgery carries a 50% mortality rate.
Therefore, only 1 in 4 will survive the surgeries.
10
Total Anomalous Pulmonary Venous Return
In total anomalous pulmonary venous return (TAPVR), a congenital condition in which there is
no venous return between pulmonary veins and the left atrium, oxygenated blood instead returns
to the superior vena cava. There are 2 forms: with or without obstruction of the venous return.
Obstruction refers to the angle at which the veins enter the sinus.
Hypoplastic Left Heart Syndrome

This is a syndrome consisting of left ventricular hypoplasia, mitral valve atresia, and aortic valve
lesions and ascending aorta.
Hemodynamics
Pulmonary venous blood → left atrium → foramen ovale /ASD→ right atrium → right ventricle
→ pulmonary artery → ductus arteriousus → descending aorta – ascending /coronary (retrograde)
Presentation
Absent pulses with a single loud S2. ↑ right ventricular impulse, pericardial hyperactivity
Gray rather than bluish cyanosis
Diagnostic Tests
Chest x-ray will show a globular-shaped heart with pulmonary edema.
EKG → right ventricular – atrial hypertrophy
Echocardiogram is the most accurate diagnostic test.
Treatment
The only therapy is 3 separate surgeries (Norwood procedure) or a heart transplant. Each surgery
carries an extremely high mortality. Screen for CNS and renal anomalies.
11
Truncus Arteriosus
Truncus arteriosus (TA) occurs when a single trunk emerges from both right and left ventricles
and gives rise to all major circulations. Associated with DiGeorge syndrome
Presentation
Single S2 is heard as there is only one semilunar valve

Peripheral pulses are bounding.
Diagnostic Tests
Chest x-ray will show cardiomegaly with increased pulmonary markings.
EKG → biventricular hypertrophy
Treatment
Surgery must be completed early to prevent pulmonary hypertension (MC complication).
12
Tricuspid atresia
Characterized clinically by cyanosis that appears early in life and single S2. Most cases (90%) are
associated with VSD, and 30% are associated with TGA. Associated heart defects (e.g., ASD,
VSD, and PDA) are necessary for survival. Associated with Down syndrome, maternal DM,
congenital rubella syndrome, and +ve family history of CHD
Hemodynamics
Venous blood → right atrium → foramen ovale/ASD → left atrium → left ventricle → VSD
(determine pulmonary flow) → right ventricle → pulmonary artery. Lack of communication
between right atrium and right ventricle → hypoplastic right ventricle
Diagnosis
Chest x-ray reveals ↓ pulmonary vascular markings (VSD dependant) and a normal-sized heart
# Other congenital heart disease (right axis deviation)

ECHO (gold standard)
Treatment
PGE 1 (to keep the ductus arteriosus open)
Balloon atrial septostomy (if the ASD is not large enough to allow an adequate flow from the
right to left atriums).
Ebstein anomaly
Characterized by the downward displacement of the tricuspid valve into the right ventricle
causing right atrial enlargement and small right ventricle. Associated with lithium use in the
first trimester
Presentation
Diagnosis
Chest x ray → decreased pulmonary blood flow and right atrial enlargement
EKG → right atrial enlargement. Wolff-parkinson-white pattern may be present.
Treatment
PGE1
Surgery is the definitive management
13
Congenital long 'QT' syndrome (Jervell-Lange-Nielson syndrome)
Diagnosis
Genetic testing should be done if a structural cardiac problem not identified in autopsy
Cardiac Surgery
Breath holding spells

(6 months – 2 years) last < 1 min – No postichteal state – iron def anemia
Reassurance and CBC for iron deficiency anemia

ECG → prolonged, recurrent spells, +ve family history of Cardiac disease, syncope, sudden death
ECHO → murmur, diaphoresis, dyspnea, poor growth (structural heart disease)
14
Rheumatic fever
Treatment
Oral penicillin. If allergic → erythromycin for 10 days
If chorea is only isolated symptom → phenobarbital
Arthritis/carditis without CHF → aspirin
Arthritis/carditis with CHF → prednisone
15
Myocarditis
Pleconaril is a potent antiviral agent that is very effective against enteroviruses.
Diagnosis
CBC with differential, ESR and C-reactive protein,
Cardiac enzymes
Blood and viral cultures
Fibromuscular dysplasia
It can present as new onset hypertension in children. Bruit or venous hum may be heard at the
costovertebral angle. Angiogram reveals the “string of beads” sign. Right > left renal artery.
16
Innocent murmur
Know the following features of a benign murmur:

Asymptomatic patient
Murmur intensity grade 2 or less
Normal S2
No audible clicks
Normal pulses
No other abnormalities
17
NBs
VSD is the most common congenital heart defect.

Bicuspid aortic valve is the most common congenital cardiac lesion in adults
ASD is the second most common congenital cardiac lesion in adults
CHF in neonates and infants < 2 months caused by structural heart disease
Best initial therapy → furosemide
Best long-term therapy → ACE inhibitor
Mitral lesions radiate to the axilla.

Tricuspid and pulmonary lesions radiate to the back.
Aortic lesions radiate to the neck.
There are only 3 holosystolic murmurs:

1. Mitral regurgitation
2. Tricuspid regurgitation
3. Ventricualr septal defect
Cardiac X-Ray Findings

Pear-shaped: pericardial effusion
Boot-shaped heart: tetralogy of Fallot
Jug handle appearance: primary pulmonary artery hypertension
"3"-like appearance or rib notching: coarctation of the aorta
Snow man sign: total anomalous pulmonary venous return
EKG findings
Right axis deviation (RVH)

• Acynotic → ASD, PS, VSD (if Eisenminger )
• Cyanotic → ALL except tricuspid atresia
Left axis deviation (LVH)

• Acynotic→ VSD, PDA, AS, coartication of the aorta
• cyanotic → tricuspid atresia
Normal
• Cyanotic → TGA
Biventricular
• Cynotic → Truncus arteriosus
Pulses
Pulsus alternans: sign of left ventricular systolic dysfunction
Pulsus bigeminus: sign of hypertrophic obstructive cardiomyopathy (HOCM)
Pulsus bisferiens: in aortic regurgitation
Pulsus tardus et parvus: aortic stenosis
Pulsus paradoxus: cardiac tamponade and tension pneumothorax
Irregularly irregular: atrial fibrillation.
18
19
Respiratory Diseases
The Ear
Acute otitis media
1
Recurrent AOM
Prevention
Hearing test
2
Acute mastoiditis
3
The Neck and Throat
Thyroglossal cyst
Laryngomalacia
4
Congenital Anomalies of the larynx (causing stridor)
5
Extrinsic compression (vascular ring)
Patient has continued symptoms due to compression of the trachea and lead to stridor, noisy
breathing, wheezing, and shortness of breath shortly after birth. Symptoms are often worse while
supine and relieved with neck extension. It will not respond to inhaled bronchodilators,
corticosteroids and racemic epinephrine.
Esophageal symptoms such as choking, vomiting or dysphagia occur in older infants.
Associated with cardiac anomalies
Disgnosed with CT, MRA, osophageogram
The treatment for severe disease is surgery.
Sudden Infant death (SIDS)
6
Choanal atresia
7
Oropharyngeal disease
Herpangina
8
Group A streptococcal tonsillopharyngitis
9
10
Retropharyngeal abscess
Peritonsillar abscess
11
Acute rheumatic fever
12
Scarlet Fever
Fever 3-5 days # Kawasaki

Sand paper rash over trunk and extremities spares the palms and soles # Kawasaki
No conjunctivitis # Kawasaki
Kawasaki disease
13
Diphtheria
Whooping Cough
Whooping cough is a form of bronchitis caused by Bordetella pertussis.
14
Diagnosis/Treatment
Immunity
Post exposure prophylaxis
Complication
The coughing spells are so severe that rectal prolapse and pneumothoraces can ensue.
In patients with apparent subcutaneous emphysema secondary to severe coughing paroxysms.
Chest x-rays must be obtained first to rule out pneumothorax.
15
Bacterial tracheitis
Caused by S. aureus
Presentation
Brassy cough, high fever, respiratory distress, but no drooling or dysphagia child < 3 years;
usually occurs after viral URTI
Complications
Airway obstruction
Diagnostic Tests
Clinical plus laryngoscopy
Chest x-ray shows subglottic narrowing plus ragged tracheal air column
Blood cultures
Throat cultures
Treatment
Antistaphylococcal antibiotics
May require intubation if severe.
Croup (laryngotracheitis/ laryngotracheobronchitis)
16
Epiglottitis
17
Bronchiolitis
Diagnostic Testing
Treatment
18
Prevention
Best prevention against bronchitis is breastfeeding. Colostrum is particularly rich in lgA and
protects against bronchiolitis.
Complication
19
Pulmonary disease
Pneumonia
20
21
Cystic Fibrosis
22
Treatment
– Clear airway secretions and control infections:
° Aerosol treatment; albuterol/saline
° Daily dose of human recombinant DNAse (mucolytic)
° Chest physical therapy with postural drainage: 1–4 times per day
– Nutritional: pancreatic enzyme replacement with meals/snacks; vitamin supplementation
– Adequate fluid replacement when exercising or hot weather
– Ivacaftor for certain mutations. Tezacaftor is an alternative.
– Lung transplant is used only in advanced disease not responsive to the therapy.
– Pneumococcal and influenza vaccinations
– Antibiotics:
Complications
• Meconium ileus
• Pancreatic insufficiency
- Pancreatic exocrine insufficiency (in 90%) → steatorrhea (frequent bulky greasy stools)
- Vitamin A malabsorption → Night blindness
- Vitamin D malabsorption → Fractures
- Vitamin E malabsorption → Neuropathy
- Vitamin K → Easy bruisability. Vitamin K is an important cofactor in posttranslational
modification of several coagulation factors: factors II, VII, IX, and X as well as proteins C and S
PFTs show mixed obstructive and restrictive patterns; decrease in FVC and total lung capacity;
and decreased diffusing capacity for carbon monoxide. (obstructive → restrictive).
23
Kartegener's syndrome
X-linked agammaglobulinemia
24
Viral childhood illness
Varicella
25
Measles
26
Atypical measles
It occurs in persons who have previously received inactivated measles vaccine (the measles
vaccine available now is a live one). This form is potentially life-threatening, and is characterized
by atypical rash (not maculopapular), the absence of Koplik spots, arthritis, hepatitis and lung
involvement. Edema of the hands and feet may occur.
Rubella
Mumps
27
Hand-foot-mouth disease
HIV
Thymus gland
28
Neck masses
29
Lymphadenopathy
30
Causes of cervical lymphadenitis
1- Acute unilateral cervical lymphadenitis

It’s usually caused by bacterial infection. Staphylococcus aureus (the most common pathogen)
followed by group A streptococcus → Lymph node is tender warm erythematous, and usually 3
to 6 cm in size in children less than 5 years old. In some cases the infection can progress to
induration and fluctuance. The treatment is incision and drainage of the mass plus an antibiotic.
The antibiotic of choice is dicloxacillin. Other effective antibiotics include cephalexin or
clindamycin.
Peptostreptococcus (anaerobic bacteria) → older children with a history of periodontal disease.
Francisella tularensis → fever, chills, headache, and malaise in addition to the lymphadenopathy.
Tularemia is a zoonosis and presents after contact with an infected animal (e.g . rabbits, hamsters,
or blood-sucking arthropods).
2- Subacute-chronic unilateral lymphadenopathy

Nontuberculous mycobacteria (most commonly Mycobacterium avium-intracellulare) → children
are usually less than 5 years old and present with firm, nontender lymphadenopathy that is usually
less than 4 cm in size. The skin over the lymph node often thins and develops a violaceous color.
Fever and tenderness are unusual with this infection.
31
Chronic cough
32
FB aspiration
If failed and severe respiratory distress and hypoxemia →Emergency cricothyroidotomy
33
Chocking
34
Gastrointestinal Disease
Sleep cycle
Normal stooling
Diarrhea
Gastroenteritis
1
Dehydration
2
3
Chronic Diarrhea
Chronic, nonspecific diarrhea presents with normal weight, height, and nutritional status with no
fat in stool. History usually includes excessive intake of fruit juice or carbonated fluids or low fat
intake. If there is weight loss and stool with high fat, screen for malabsorption.
Malabsorption
Malabsorption may appear from birth or after introduction of new foods.
Diagnostic Testing
Fat malabsorption:
Best initial screening test: Sudan black stain
Best confirmatory test: 72-hour stool for fecal fat (gold standard for steatorrhea)
Serum trypsinogen screens for pancreatic function
• Pancreatic insufficiency→ get a sweat chloride test to rule in/ out cysjlc fibrosis.
• Giardiasis → order a duodenal aspirate/biopsy or immunoassay.
Carbohydrate malabsorption:
Best initial test: Clinitest (measures reducing substances in stool)
Most specific test: Breath hydrogen test
Protein malabsorption: Cannot be evaluated directly.

Best initial test: Spot stool alpha-I antitrypsin level
Celiac disease
4
Vomiting
Non- bilious
Esophageal Atresia
Diagnostic Tests
A gastric air bubble and esophageal air bubble can be seen on chest X-ray (CXR).
Treatment
Surgical repair must be done in 2 steps to correct the congenital anomaly.
Antibiotic coverage for anaerobes must also be considered due to high risk of lung abscess
formation secondary to aspiration.
Fluid resuscitation before surgery must be done to prevent dehydration of the infant.
5
6
Gastroesophageal Reflux
Gastroesophageal Reflux Disease (GERD)

Presentation
Postprandial vomiting, esophagitis but maintains adequate weight gain.
Obstructive apnea, stridor, lower airway disease (cough, wheezing)
Symptoms typically resolve by 12-24 months.
Diagnosis
Clinical made.
Best initial test is esophageal pH monitoring.
Endoscopy is used to evaluate for erosive gastritis or other complications.
Treatment
Pathological → thickened feeds with rice cereal. When this fails, the first-line therapy is an
H2-receptor antagonist (ranitidine, cimetidine, famotidine) because of its safety profile.
Proton pump inhibitors (omeprazole, lansoprazole, pantoprazole) and surgical fundoplication are
reserved for severe reflux and esophagitis
7
Pyloric Stenosis (gastric outlet obstruction)
Diagnosis
The most accurate test is an upper GI series (barium is swallowed and its passage is watched
under fluoroscopy), which will show 4 signs:
1. Strjng sign: thin column of barium leaking through the tightened muscle
2. Shoulder sign: filling defect in the antrum due to prolapse of muscle inward
3. Mushroom sign: hypertrophic pylorus against the duodenum
4. Railroad track sign: excess mucosa in the pyloric lumen →2 columns of barium
Treatment
8
Cyclical vomiting
9
Bilious vomiting
Differential diagnosis
Disease Duodenal atresia Jejunal atresia Meconium ileus Hirschsprung

Onset < 12 hrs < 12 hrs > 48 hrs > 48 hrs
Vomiting Bilious Bilious Bilious Bilious
Meconium Delayed passage Delayed Delayed Delayed passage
passage passage
Abd No Marked Marked Marked
distension
Abd XR Double bubble Triple bubble Dilated small Dilated small &
bowels large bowels
Association Down syndrome Cocaine Cystic fibrosis
10
Duodenal Atresia
Duodenal atresia (DA) is a lack or absence of apoptosis (programmed cell death) that leads to
improper canalization of the lumen of the duodenum.
Duodenal atresia is associated with an annular pancreas and Down syndrome.
Presentation
Diagnostic Tests
Chest x-ray will show a classic double bubble sign (air trapped in the first portion of the
duodenum and stomach). Chromosomal abnormality
Jejunal atresia shows a "triple bubble" as well as a gasless lower abdomen. Vascular accident
(cocaine, volvulus)
Treatment
Replace lost volume with IV fluids, taking special care to replace lost electrolytes. Potassium is
often low from vomiting.
NGT must be used to decompress the bowel.
Surgical duodenostomy is the most common surgical procedure and definitive treatment after
CVS risk assessment with ECHO
Jejunal atresia
11
Malrotation and Volvulus
Diagnostic Testing
Treatment
Meconium Plugs (Lower Colon) and Meconium lleus (Lower Ileum)

This presents initially with an intestinal obstruction.
Plugs:
- Small left colon in IODM
- Hirschsprung disease
- Cystic fibrosis
- Maternal drug abuse
- Some drugs ( eg. magnesium sulfate. opiates. ganglionic blocking agents)
Ileus:
- Cystic fibrosis (rhinosinusitis)
Diagnostic Testing
The best initial diagnostic test is an abdominal x-ray.
Treatment
Ileus with Gastografin enema. If failed surgery
12
Hirschsprung Disease
Hirschsprung disease is a congenital lack of innervation of the distal bowel by the Auerbach
plexus (failure of migration of neural crest). This lack causes a constant contracture of muscle
tone.
Presentation
Diagnostic Tests
Treatment
13
Meconium ileus and Hirschsprung disease
14
Constipation
Functional pediatric constipation
Complications:
• Fecal incontinence
• UTI
Treatment
15
16
Hematochezia
Food protein-induced allergic proctocolitis
17
Meckel's Diverticulum
18
Intussusception
19
Colic
20
Functional abdominal pain
Imperforate Anus
With imperforate anus, the opening to the anus is missing and the rectum ends in a blind pouch
with conservation of the sphincter. The cause is unknown but has a high association with Down
syndrome.
Presentation/Diagnostic Tests/Treatment
Complete failure to pass meconium is diagnostic. A physical exam will reveal no anus. Surgery is
curative.
Components of VACTERL syndrome

V: vertebral anomalies
A: anal atresia
C: cardiovascular anomalies
T: tracheoesophageal fistula
E: esophageal atresia
R: renal anomalies
L: limb anomalies
21
CHARGE syndrome is a set of congenital defects seen in conjunction.
C: coloboma of the eye, central nervous system anomalies
H: heart defects
A: atresia of the choanae
R: retardation of growth and/or development
G: genital and/or urinary defects (hypogonadism)
E: ear anomalies and/or deafness
Presentation
Child will turn blue when feeding and then pink when crying.
Diagnostic Tests/Treatment
Diagnosis is confirmed by CT scan shows narrowing at the level of pterygoid plate in the
posterior nasal cavity. Failure to pass catheter through the oropharynx is suggestive.
The first step in management is placing an oral airway and gavage feeding.
The only definitive treatment is surgical intervention to perforate the membrane and reconnect the
pharynx to the nostrils.
Reye syndrome
Biopsy of the liver, kidneys and brain reveals microvesicular steatosis (extensive fatty
vacuolization without inflammation).
22
Vitamin deficiency
23
Foreign body swallowing
Coin ingestion
• Symptomatic
• Asymptomatic
High risk objects
• Esophageal
• Beyond esophagus
Role of CT scan
24
Bronchial tree foreign body
25
Endocrinology
Failure to thrive
Obesity
Congenital hypothyroidism
1
Neonatal thyrotoxicosis
2
Congenital adrenal hyperplasia
Pathogenesis of CAH
3
DD
Diagnostic Testing
Cosyntropin stimulation test is the gold standard for diagnosis partial deficiencies.
Treatment
4
Infant of a Diabetic Mother (IODM)
Infants that present large for gestation, plethora, jitteriness and birth trauma (shoulder
dystocia) → Blood glucose is the best initial diagnostic test.
Lab abnormalities are the following: (2nd – 3rd trimester)

Hypoglycemia (after birth) → seizures
Hypocakemia → tetany, lethargy
Hypomagnesemia → hypocalcemia, PTH ↓
Hyperbilirubinemia → icterus and kernicterus
Polycythemia (↑ output from BM)
IODM is associated with the following: (1st trimester)

1- Cardiac abnormalities (ASD, VSD, truncus arteriosus). Most common abnormality
asymmetric septal hypertrophy. Diagnosed with EKG, ECHO. Treated with BB, IV fluid.
2- Small left colon syndrome (abdominal distension- constipation) diagnosed with
barium.
3- Renal vien thrombosis (flank mass, bruit, thrombocytopenia, hematuria)
4-↑ risk of developing diabetes and childhood obesity.
5-↑ neural tube defect, spontenous abortion, and shoulder dystocia (macrosomia)
Treat with glucose and small, frequent meals.

Prevented with maternal adherence to prenatal insulin therapy
5
Pubertal gynecomastia is seen in approximately one-half of adolescent boys, at an average age of
14 years. It is often asymmetric or transiently unilateral, and frequently tender due to low ratio of
potent androgen to estrogen prior to the completion of puberty. In prepubertal males the testicular
size is normally 2 cm in length and 3 mL in volume. The initial management → reassurance and
watchful waiting/observation and regresses within 6 - 18 months.
During puberty it may reach up to 25 mL in volume. In postpubertal males, Klinefelter syndrome

should be suspected if the volume of the testis is small (testis size < 10 mL) and firm.
6
Precocious puberty
Isolated premature thelarche → breast development due to ovaries secrete estrogen and
progesterone. Often, has no clinical significance.
Treatment
Isolated premature thelrache and adrenache → reassurance
7
Classification
Central precocious puberty
Treatment
Peripheral precocious puberty
Ovary
McCune-Albright syndrome:
Testes
Leideg testicular tumor
8
Adrenal
Non-classic CAH
9
Treatment
10
Delayed puberty
Puberty in girls
11
Renal and Urologic Disorders
Urinary Tract Infections (UTls) in Pediatrics
Diagnostic Testing
1
Treatment
Cystitis (dysuria): Amoxicillin, trimethoprim-sulfamethoxazole
Pyelonephritis (fever, flank pain): IV ceftriaxone or ampicillinplus gentamicin
Acute pyelonephritis usually present with fever, chills, nausea, vomiting and flank or
suprapubic pain. Physical examination shows costovertebral angle tenderness.
Hospitalization and Empiric therapy with intravenous antibiotics before culture results
are indicated in complicated acute pyelonephritis.
Do not give the following:

Sulfonamides or nitrofurantoin in infants < 1 month old (give ceftriaxone)
Tetracyclines in children < 7 years
Quinolones in children < 16 year
Further Management
Do urine culture 1 week after stopping antibiotics to confirm sterile urine; reassess
periodically for next 1-:-2 years. Repeat urine culture should be performed only in
children who fail to respond after 48 hours of appropriate antimicrobial therapy.
Constipation
2
US Bladder
3
Vesicoureteral Reflux (VUR)
4
Diagnostic Testing
Treatment
Antibiotic prophylaxis (amoxicillin, trimethoprim-sulfamethoxazole, or nitrofurantoin) is
used for the 1st year following diagnosis for any grade of VUR, particularly in younger
infants, to prevent kidney scarring from recurrent infections.
Surgery under the following conditions:

- Any breakthrough UTI
- New scars
- Failure to resolve
Obstructive Uropathy
The first presentation of obstructive uropathy is often infection or sepsis. The most
common causes of obstructive uropathy are the following:
Posterior urethral valve
Diagnosis
Treatment
5
Vesicoureteral reflux
Uteropelvic junction
Duplicated collecting system
Horse show kidney
Hemolytic uremic syndrome
6
Wilms Tumor
7
Hematology
Physiological anemia
Iron-Deficiency Anemia
1
Congenital Anemia
Fanconi anemia
2
Blackfan-Diamond anemia
Congenital pure red cell anemia Congenital pancytopenia

(Blackfan-Diamond) (Fanconi anemia)
Cause ↑ RBC programmed cell death Spontaneous chromosomal
break
Age Profound anemia by 2-6 months Infancy to adult
Congenital Short stature, craniofacial Short stature, hyperpigmentation,
anomalies deformities, café –au- lait spots, microcephaly,
webbed neck, cleft lip, shielded microphthalmia, Strabismus, low-
chest set ears, and middle ear
Triphalangeal thumbs abnormalities, short stature,
horseshoe kidneys
Absent or hypoplastic thumbs
Labs Normal platelets -WBCs ↓ platelets – WBCS
↓ RBCs - ↑ MCV- ↓ reticulocyte ↓ RBCs
↑ Fe - ↑ HbF - ↑ RBC ADA ↑ HbF
Bone marrow ↓ RBCs precoursers Hypoplasia
Treatment Corticosteroids Corticosteroids
Transfusion Androgen
Splenectomy BMT (definitive)
Stem cell transplant (definitive)
3
Acquired anemia
Aplastic anemia (acquired) → pancytopenia + NO macrocytosis + NO deformities
Transient erythroblastopenia → pure red aplasia + NO macrocytosis + NO deformities.
4
Neurology
Meningitis
1
Cerebral palsy
2
Febrile seizures
3
Diagnostic work up
A full evaluation must be ordered, which includes
CBC with differential blood
Urine cultures, urinalysis,
Chest x-ray,
Lumbar puncture (if irritability or lethargy is mentioned = meningitis, on antibiotics masking
meningitis, unknown immunization).
DO NOT order EEG or neuroimaging (except; complex febrile seizure > 15 mins, increase ICP,
macrocephly, abnormal neurological examination).
4
Seizure Disorder
5
Absence epilepsy
6
Juvenile myoclonic epilepsy
West syndrome (infantile spasm)
Lennox-Gastaut syndrome
7
Focal seizure
Partial seizure with secondary generalization → initial aura, tongue biting or bladder/bowel
incontinence, diffuse muscle soreness, elevated CK # complex partial seizures (automatism;
chewing, picking movements of the hands, and lip smacking).
hyperventilation during the EEG cannot simulate a complex partial seizure.

#
Hyperventilation during the EEG reveals a generalized 3Hz spike-and-wave pattern on a normal
background in absence seizure.
Breakthrough seizure
Todd's paralysis (seizures)
8
Acute hemiplegia
Migraine headaches
9
Pediatric stroke
Internal carotid artery dissection

It is a potential cause of acute stroke in children that is usually associated with a history of trauma
to the soft palate with a foreign body. Confirm diagnosis by MRI/MRA of the brain. Treatment is
somewhat controversial and ranges from close observation with supportive care to aggressive
treatment with anticoagulation.
10
Breath holding spells
Treatment
Self-limited and should be treated with education and reassurance.
Anemic patients should be treated with iron supplementation.
11
Infantile botulism
Infantile spinal muscular atrophy (Werdnig-Hoffman's syndrome)

Characterized by proximal and distal hypotonia since birth, normal social and language skills, and
tongue fibrillations.
12
CNS tumors
Medulloblastoma
Ependymoma
13
Pinealoma
Craniopharyngioma
14
Empty sella syndrome
Pituitary adenoma
Rathke cleft cyst
Benign astrocytomas
They are the most common histologic type in both groups, infratentorial tumors are more
common than supratentorial tumors
Glioblastoma
Meningiomas
They are non-invasive tumors derived from arachnoid cap cells, and consist of concentric whorls
and calcified psammoma bodies. These may indent the brain and cause hyperostosis. These
usually occur on the convex surfaces of the brain.
Retinoblastoma
15
Neuroblastoma
Presentation
Hypsarrythmia (dancing eyes) and opsoclonus (dancing feet) are hallmarks.
Metastatic sites are the long bones, skull, bone marrow, liver, lymph nodes and skin.
Diagnosis
Plain x-ray and CT scan → Calcifications and hemorrhages
prognosis
depends on clinical factors, tumor histology and genetic characteristics (amplification of N-myc
proto-oncogene and hyperdiploidy).
16
Screening
Occult spinal bifid a with lumbosacral ultrasound. Abnormal screening ultrasound should be
followed by spinal magnetic resonance imaging to assess the extent of the neural tube defect.
17
Hydrocephalus
Causes
1- Communicating hydrocephalus
Subarachnoid hemorrhage (SAH)
Can be caused by an intraventricular hemorrhage which is common in premature infants.
Accumulation of the blood in the subarachnoid space may lead to destruction of the
arachnoid villi and cisterns so blocking the flow or decreasing the absorption of CSF. and leading
to communicating hydrocephalus. SAH is the most common cause of communicating
hydrocephalus.
CT scan → dilation of the entire ventricular system with distinct enlargement of the subarachnoid
space over the cerebral cortex
2- Obstructive (noncommunicating) hydrocephalus

1- Dandy-Walker Anomaly will demonstrate a cystic expansion of the fourth ventricle (cerebellar
absence).
2- Chiari malformation will reveal protrusion of the structures of the posterior fossa through the
foramen magnum (tonsillar herniation).
18
19
Musculoskeletal disorders
Congenital torticollis (Sternomastoid tumor of infancy)
Down syndrome
Growing pains (lower pain threshold)
1
Physiologic genu varum
Diagnosis/Treatment
Physiologic gene valgum
Diagnosis/Treatment
2
Spodyolisthesis
Congenital hip dysplasia
Complication if untreated limping, scoliosis, arthritis, and avascular necrosis
3
Slipped capital Legg- Calve-Perthes disese Transient synovitis
femoral epiphysis (idiopathic femoral head (Most common cause of
osteonecrosis (AVN) hip pain in children)
Age Adolescent (10-16 3-12 3-10
years)
especially obese
Presentation Painful limp on Painful limp on internal Painful limb on external
external rotation. rotation and abduction at rotation, abduction
Limited abduction, the hip joint can become flexion.
flexion and internal markedly limited. Symptoms should
rotation of the hip Proximal thigh atrophy an resolve within 1-4 weeks.
Antalgic gait
Positive Trendelenburg test
Diagnosis Frog-leg, lateral: Early: normal Persistent symptoms →
X- ray Post displacement of Late: flattened fragmented bilateral hip x-rays to
femoral head, sclerotic femoral head assess for Legg-Calve-
widened joint space Perthes disease
Treatment Non-weight bearing Rest, NSAIDs and non- Rest and ibuprofen and
Internal fixation weight baring follow up in 1 week
with pinning to Bracing or splinting.
decrease avascular Surgery if femoral head is
necrosis and not contained in acetabulum
chondrolysis on both hips if one necrosis,
eventually will be the other
Risk Obesity Thromophilia Viral infection
factors Adolescent Mild trauma
Endocrinopathies ( Thrombophilia
eg, hypothyroidism,
growth hormone
deficiency),
Renal failure
Radiation history
Complications Avascular necrosis
Osteoarthritis
4
Septic arthritis
5
Presentation
• Neonate
• Children
6
Hematogenous osteomyelitis
7
Transient synovitis
Clubfoot (talipes equino varus)
8
Metatarsus adductus (deformity in the first-born infants)
Adduction of the anterior aspect of the foot with a convex lateral border and concave
medial border.
Type I metatarsus adductus → characterized by feet that overcorrect both passively and
actively into abduction. These cases tend to spontaneously correct by themselves;
therefore, treatment is not necessary (reassurance).
Type II metatarsus adductus → characterized by feet that correct to the neutral position
with passive and active movements; this is managed with orthosis or corrective shoes, if
initial treatment gives no results → plaster casts.
Type Ill metatarsus adductus → characterized by rigid feet and do not correct; these are
managed with serial casts.
If residual surgical correction at age of 4 years

Internal tibial torsion (normal in the newborn)
Nursemaid's elbow
9
Rickets
Rickets is a disorder caused by a lack of vitamin D, calcium, or phosphate. It leads to
softening and weakening of the bones, making them more susceptible to fractures. Children 6
to 24 months are at highest risk because their bones are rapidly growing.
There are 3 main etiologies of rickets:

1. Vitamin D-deficient rickets caused by a lack of enough vitamin D in the child's diet.
2. Vitamin D-dependent rickets is the inability to convert 25-0H to 1,25(0Hh and therefore the
infant is dependent on vitamin D supplementation.
3. X-linked hypophosphatemic rickets occurs when an innate kidney defect results in the
inability to retain phosphate. Without phosphate, adequate bone mineralization cannot take
place and bones are weakened
Type Calcium Phosphorus PTH 25 OH 1, 25

Vit D (OH)2
Vit D
Vitamin D-deficient ↓ ↓ ↑ ↓ ↓
Vitamin D-dependent Normal Normal Normal Normal ↓
X-linked Normal ↓ Normal Normal Normal
hypophosphatemic
Presentation
Child will present with craniotabes, rachitic rosary, Harrison groove ((horizontal depression
on lower border of chest), large anterior fontanelle, ulnar/radial bowing and a waddling gait
due to tibial/ femoral bowing and thickening of the lower end of the long bones.
The typical patients are low-birth weight infants, unsupplemented dark-skinned infants,
infants with inadequate sun exposure, and breastfed infants.
Diagnostic Tests
Bowlegs are a characteristic sign (cupping and fraying of the metaphyses of the long bone).
Rachitic rosary-like appearance on CXR of the costochondral joints
# Diseases causing rosary
Chondrodystrophy → radiologic findings will show irregular concave outlines of the distal
ends of the bones.
Scurvy → the angulation of the beads is usually sharper than in those with rickets. The
diagnosis is confirmed radiologically (pencil-point thinness of the long bones' cortex. and
sharply outlined epiphyseal ends).
Treatment
Replacement of phosphate, calcium, and vitamin D in the form of ergocalciferol or l,25(0H)2,
calcitrol and annual blood vitamin D monitoring.
10
11
Myotonic dystrophy
Most accurate test → Muscle biopsy can confirm the diagnosis (if genetic studies are
not conclusive).
EMG with myopathic pattern
Congenital myotonic dystrophy
12
Duchene muscle dystrophy
13
The differential for a lytic bone lesion in a child
Idiopathic (benign bone cyst, aneurysmal bone cyst)
Infectious (Brodie abscess from osteomyelitis).
Endocrine (hyper parathyroid osteitis fibrosa cystica).
Neoplastic (Ewing sarcoma. Langerhans cell histiocytosis, metastases).
If hypercalcemia present narrow the DD to endocrine (>50 years of age) and neoplastic
14
Disease Symptoms Radiology X ray
Osteosarcoma The most common Sunburst
Metaphasis of long (periosteal
bone reaction)
Large, tender mass Codman triangle
Constitutional (elevation of
symptoms such as periosteum with
fever, weight loss, and underlying tumor)
malaise are usually
absent.
Ewing sarcoma 2nd most common Central lytic lesion
Diaphysis of long Onion skinning
bone, Pelvis (lamellated
Localized pain, periosteal reaction)
erythema, swelling Moth eaten
worse at night and Codman triangle
with activity
Systemic symptoms
(fever, anemia, ↑
WBCs, ↑ ESR)
Giant cell tumor Epiphyses of long Soap bubble
bone
Unicameral bone Proximal femur/ Cystic lesion with

cyst humerus well-defined
Pathological fracture margin
Osteoid Osteoma Proximal femur, tibia Sclerotic, cortical

and spine lesion with a
Pain at night and central nidus of
unrelated to activity. lucency.
No systemic symptoms
Respond to NSAID
Surgery for refractory
Multiple myeloma >40 years old Punched out lytic
Fibrosarcoma >30 years old Osteolytic lesion

Moth eaten
margins
15
Gaint cell tumor
16
Genetics/dysmorphology
1
2
3
4
5
6
7
Prader-willi syndrome
8
Angelman syndrome
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome: Microcephaly + Omphalocele,or Umblical hernia +

Hypoglycemia
#
Infant of diabetic mother: Hypoglycemia + No omphalocele
#
Congenital hypothyroidism: Macrocephaly + Umbilical hernia (instead of omphalocele) + NO
hypoglycemia and hyperinsulinemia.
9
10
Systemic 1° carnitine deficiency—no cellular uptake of carnitine Ž no transport of LCFAs
into mitochondria Ž toxic accumulation of LCFAs in the cytosol. Causes weakness, hypotonia,
hypoketotic hypoglycemia, dilated cardiomyopathy.
Medium-chain acyl-CoA dehydrogenase deficiency—• ability to break down fatty

acids into acetyl-CoA Ž accumulation of fatty acyl carnitines in the blood with hypoketotic
hypoglycemia. Causes vomiting, lethargy, seizures, coma, liver dysfunction, hyperammonemia. Can lead
to sudden death in infants or children. Treat by avoiding fasting.
11
12
13
14
15
16
17
18
19
Friedreich Ataxia
20
Neurocutaneous disorders
Cleft lip
Mitochondrial disease
21

Uw - Elseby Notes Pediatrics

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Pediatrics

Routine Management of the Newborn

(1) Physical examination once the child is delivered

Normal Vital Signs in a Newborn

(2) Apgar score: Newborn Assessment

Scores > 7 requires NO further evaluation or resuscitation.

(4) Screening Tests (after 48 hours)

Permanent unilateral Port wine stain Sturge-Weber Pulsed laser

Red, sharply Hemangioma Consider underlying Treat with

1-Sterile wrapping of 2-inserting an 3- intravenous access 4- surgical

Urethral opening on Hypospadias Other GU anomalies Do not

Urethral opening on Epispadias Urinary incontinence Surgical

Erythema toxicum Neonatal HSV SSSS

Congenital umbilical hernia

Indirect inguinal hernia

Exstrophy of the Urinary Bladder

Small for gestational age infants

Polycythemia → increased erythropoietin secretion in response to fetal hypoxia.

Transient breast enlargement

Transient weight loss

Best initial treatment:

Persistent pulmonary hypertension (PPH)

Bronchopulmonary dysplasia (prolonged high-concentration oxygen): Prevent with CPAP. Treated

Prevent by performing an endotracheal intubation and airway suction of depressed infants.

Congenital Diaphragmatic Hernia

• G6PD (No splenomegaly)

Hereditary spherocytosis (Splenomegaly)

Breast feeding jaundice

Breast milk jaundice

UDP-glucuronyl ↓ Total absence Total absence

• Choledochal cysts (biliary cysts)

To look for infectious causes, perform the following:

Ultrasound of head in preterms to look for intraventricular hemorrhage

Infection Presentation Diagnostic tests Treatment

Disclosure of HIV status to school ??

Acyclovir is the treatment of choice for active varicella infection.

Neonatal complications Obstetric complications

Primary nocturnal enuresis

If abdominal trauma, perform the following:

The following are indications for hospitalization:

Because functional closure of the ductus arteriosis may be delayed in CHD:

Consider CHD in any child presenting with the following:

Most accurate test: Echocardiography (less invasive)

1- Small VSD → Asymptomatic + harsher murmur

Surgical intervention (Cardiac catheterization is required before surgery)

Wide pulse pressure

Symptoms Infant → left ventricular heart failure May be asymptomatic or may

Chest x ray Prominent ascending aorta Poststenotic dilation of pul artery

↓ Pulmonary Flow ↑ Pulmonary Flow (HF)

Single S2 Gallop heart Normal sound Single S2

Tricuspid A/ S (lt axis) Ebstain TAPVC TGA (Holosystolic)

Normal heart / Lt Axis

Diagnosis TGA Truncus Arteriosus Hypoplastic lt Heart TAPVC

According to degree of right ventricular outflow obstruction

It is commonly seen in infants of diabetic mothers and in males.

Hypoplastic Left Heart Syndrome

Single S2 is heard as there is only one semilunar valve

# Other congenital heart disease (right axis deviation)

Breath holding spells

Reassurance and CBC for iron deficiency anemia

Pleconaril is a potent antiviral agent that is very effective against enteroviruses.

Know the following features of a benign murmur:

VSD is the most common congenital heart defect.

Mitral lesions radiate to the axilla.