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656 Cards in this Set

  • Front
  • Back
bug --> parainfluenza
presentation --> barking cough, hoarseness, inspiratory stridor
diagnosis --> clinical
treatment --> warm moist, nebulized epi, corticosteroids
complications --> hypoxia
bug --> strep pyogenes, strep neumoniae, staph, mycoplasma
medical emergency
presentation --> sudden onset high fever, difficulty swalloing, drooling, toxic-appearance, stridor
diagnosis --> clinical looking cherry-red swollen epiglotis
treatment --> consult ENT and intubate + antibiotics
complications --> death
bacterial tracheitis
bug --> staph
presentation --> brassy cough, high fever, respiratory distress, no drooling or dysphagia
diagnosis --> clinical + laryngoscopy
complicaions --> airway obstruction
spasmodic croup
bug --> viral
presentation --> coryza and hoarseness + sudden onset afebrile croup-like; improves within hours, lasts 2-3 days
diagnosis --> clinical
treatment --> supportive
acute infecitous laryngitis
bug --> diptheria
presentation --> hoarseness and loss of voice out of proportion to systemic findings, sore throat
differential diagnosis of upper airway obstruction
bacterial tracheitis
spasmodic croup
acute infectious laryngitis
foreign body aspiration
retropharyngeal abscess
extrinsic compression
congenital anomaly presents with stridor at 2 weeks of life
MCC of stridor
clinical suspicion confirmed with laryngoscopy
treat with surgery
congenital subglottic stenosis
recurrent persistent croup
2nd MCC of stridor
initial test --> x-ray
confirm --> laryngoscopy
vocal cord paralysis
associated with meningomyelocele, Chiari, hydrocephalus or acquired
bilateral --> airway obstruction
unilateral --> aspiration, cough, choking, weak cry
diagnosis --> flexible brnchoscopy
resolves in 6-12 months; may require temporal tracheostomy
airway foreign body
presentation --> acute choking, coughing, wheezing, respiratory distress, decreased breath sounds
diagnosis --> chest x-ray reveals air trapping; confirm with bronchoscopy
therapy --> removal by bronchoscopy
acute bronchitis
presentation --> dry hacking persistent cough may be purulent; coarse and fine crackles
differential --> exclude pneumonia
treatment --> supportive
bug --> RSV (50%), parainfluenza, adenovirus, mycoplasma
presentation --> paroxysmal wheezy cough, dyspnea, tachypnea, apnea, fine crackles; most common in <2y/o
diagnosis --> clinical; chest x-ray shows patchy atelectasis
treatment --> supportive care +- beta2-agonist; no steroids
small airway diseases
acute bronchitis
stridor differential diagnosis
congenital subglottic stenosis
vocal cord paralysis
upper respiratory infection diffferenatial
acute infectious laryngitis
acute bronchitis
pneumonia etiology
0-28 days --> GBS, gram-, listeria
3 wk- 3 mo --> C. trachomatis, RSV, parainfluenza
4 mo-4 y --> viruses; RSV; parainfluenza, influenza, adenovirus
>5 y/o --> bacteria; mycoplasma, pneumocococcus, C. pneumoniae
viral Vs bacterial pneumonia
onset --> acute in bacterial; several days of URI in viral
temperature --> very high in bacterial
URI --> present in viral
toxicity --> bacterial
rales --> scattered in viral; localized in bacterial
WBC --> increased in bacterial
chest x-ray --> streaking in viral; lobar in bacterial
pneumonia diagnosis
clinical + x-ray + WBC
definitive --> isolation of virus or antigens in respiratory secretions for viruses; blood culture, pleural fluid or lung for bacteria (not sputum)
x-ray in pneumonia
viral --> hyperinflation with bilateral interstitial infiltrates and peribronchial cuffing
pneumococus --> lobar consolidation
mycoplasma or chlamydia pneumoniae --> unilateral lower-lobe interstitial pneumonia looks worse than presentation
chlamydia trachomatis pneumonia
1-3 months
no fever or wheezing
staccato cough
pneumonia treatment
empiric amoxicillin for outpatient mild cases
empiric parenteral cefuroxime for hospitalized
if viral --> withold treatment if mild; if worsens add antibiotics
for mycoplasma of chlamydia --> erythromycin
cystic fibrosis pathogenesis
mutation of CFTR gene renders epithelial cells incapable of secreting chloride with failure to clar mucous secretions produced
systems mostly affected by cystic fibrosis
respiratory tract
intestical glands
genitourinary tract
intestinal manifestations of cystic fibrosis
meconium ileus --> in 15-20% of newborns (dilated loops with air fluid levels and ground glass on x-ray)
pancreatic insufficiency --> malabsorption with failure to thrive, frequent bulky greasy stools, ADEK deficiency, DM, pancreatitis
hepatobilliary --> obstruction leads to icterus, ascites hepatomegaly
rectal prolapse
respiratory manifestations of cystic fibrosis
presentation --> cough and purulent mucus (bronchiectasis), PFT abnormalities, cor pulmonale, death
exam --> increased A-P diameterhyperresonance, rales, clubbing, expiratory wheezing
genitourinary presentation of cystic fibrosis
delayed sexual development
azoospermia, hernias, hydrocele, cryptorchidia
secondary amenorrhea, cervicitis, infertility
cystic fibrosis diagnosis
best test --> two sweat tests > 60mEq/L
pancreatic tests --> 72-hour fecal fat collection, trypsin in stools
PFT --> obstructive by 5 years then restrictive
micro --> staph and pseudomonas in sputum
genetic testing
newborn screen
newborn screen for cystic fibrosis
1) immunoreactive trypsinogen in blood
2) confirmation with sweat or DNA testing
cystic fibrosis management
clear airways --> salbutamol saline aerosol + human recombinant DNAse (mucolytic); chest physical therapy
antibiotics --> tobramycin (outpatient); tobramycin + piperacillin (inpatient)
ibuprofen slows disease; no steroids
nutritional --> pancreatic enzymes + ADEK vitamins
sudden infant death syndrome definition
sudden death unexplained by autopsy, forensics or medical history
sudden infant death syndrome differential diagnosis
congenital anomaly
unintentional injury
trumatic child abuse
intentional suffocation
sudden infant death syndrome reduction of risk
supine while sleep
cribs with safety standards
no soft surfaces or bedding
avoid overheating
asthma presentation
diffuese wheezing, expiratory then inspiratory
prolonged expiratory phase
decreased breath sounds
accesory muscles
increased work of breathing
asthma diagnosis
clinical diagnosis in children
lab tests and provocation tests are not required but may be used to follow patient
LFT --> gold standard; FEV1/FVC <0.8 with improved FEV1 after beta agonist
images --> hyperinflation and flattening of diaphragms; peribronchial thickening
mild intermittent asthma
daytime --> <2x/week
nightime --> >2x/month
PFT --> FEV1 >= 80%
treatment --> short-acting beta agonist (albuterol, levalbuterol)
mild persistent asthma
daytime >= 2x/week
nightime >= 2x/month
PFT --> FEV1 >= 80%
treatment --> inhaled steroids + beta agonist for breakthrough
moderate persistent asthma
daytime --> daily
nightime --> >1x/week
PFT --> FEV1 60-80%
treatment --> inhaled steroids + long-acting beta agonist (salmeterol) +- short-acting beta agonist for breakthrough
severe persistent asthma
daytime --> continually; limited activities
nightime --> frequent
LFT --> <= 60%
treatment --> high-dose inhaled steroid + salmeterol (long-acting) + albuterol + systemic steroids
asthma rapid-onset medications
beta 2 agonists --> albuterol, levalbuterol (inhaled)
anticholinergics --> ipratropium (less potent than beta 2; use as add-on)
long-term asthma medications
NSAID --> cromolyn; mild-moderate asthma; alternative
long-acting beta agonists --> salmeterol; used in ICS
inhaled corticosteroids --> 1st gen: beclomethasone, flunisolide, triamcinolone; 2nd gen: budesonide, fluticasone, mometasone
leukotrienes --> inhibitors: zileuton; antagonists: montelukast, zafirlukast
systemic steroids --> prednisone, prednisolone
emergency management of asthma
inhaled albuterol +- ipratropium +- corticosteroids PO/IV
go home if sustained improvement, SaO2 > 92% after 4 hours in room air
if no improvement --> hospitalize and add IV steroids
blood culture+
0-3 years --> developmental dysplasia of hip
4-12 years --> Legg-Clave-Pethers disease
>12 years --> slipped capital femoral epiphysis
developmental dysplasia of the hip presentation
Barlow sign --> dislocates hip in neonate
Ortolani sign -->
Galeazzi sign -->
developmental dysplasia of the hip diagnosis
dynamic ultrasound of hips is best test
after 4 months --> frog lateral x-ray
developmental dysplasia of the hip treatment
Pavlik harness for 1-2 months then surgery
Legg-Calve-Perthes disease
idiopathic avascular necrosis of capital femoral epiphysis in 4-12 y/o
presentation --> mild intermittent pain in anterior thigh with painless limp and decreased range of motion
diagnosis --> AP and frog lateral x-rays shows compression, collapse and deformity of femoral head
treatment --> casts, bedrest or surgical correction
slipped capital femoral epiphysis
obese with delayed skeletal maturation or thin with recent growth spurt
mild antalgic gait with external rotation
sudden onset of pain and cannot stand or walk
knee pain also
diagnosis --> AP and frog-lateral x-ray shows femoral neck rotated anteriorly with head in acetabulum
treatment --> close the epiphysis by pinning
transient synovitis
7-14 days after URI
acute pain with limp
pain in groin, anterior thigh and knee
diagnosis --> small effusion, increased ESR, normal x-ray
treatment --> bedrest
metatarsus adductus
forefoot is adducted from flexible to rigid; can place foot flat on exam
treat with serial plaster casts, orthoses and corrective shoes
surgery if still significant by 4 years
talipes euinovarus
hindfoot equinus, hindfoot and midfoot varus, forefoot adduction
can't get heel flat on exam
treatment --> serial casting, orthoses, corrective shoes by 3 months; else surgery
internal femoral torsion
femoral anteversion
secondary to abnormal sitting habits
entire leg rotated inwardly at hip during gait
surgery if significant after 10y/o
popliteal cyst
Baker cyst
distension of bursa by synovial fluid behind knee
ultrasound for aspiration
surgery if symptomatic or enlargement
Osgood-Schlatter disease
traction apophysitis of tibial tubercle (overuse injury) in active adoloescent
swelling, tenderness, increased prominence of tubercle
treatment is rest and immobilization
more common in adolescent females
PA and lateral x-rays of entire spine
braces if < 40 degrees; surgery if > 45 degrees or brace failure
osteomyelitis etiology
staph MC overall
GBS in neonates
pseudomonas in puncture wounds
salmonella in sickle cell disease
septic arthritis
osteomyelitis presentation
pain with movements
limp or refusal to walk
osteomyelitis diagnosis
blood culture, CBC, ESR, CRP
x-rays --> to exclude trauma foreign body or tumor; are normal until after 10-14 days
ultrasound --> joint effusion
best is MRI
definitive diagnosis --> bone biopsy for culture and sensitivity
osteomyelitis treatment
always cover for staph initially
4-6 weeks
osteogenesis impefecta
fragile bones, blue sclera and early deafness
diagnosis --> rule out child abuse; confrim with collagen studies using cultured fibroblasts from biopsy
osteogenic sarcoma
more common after 10 y/o
predisposes to retinoblastoma
x-ray --> sclerotic destruction seen as sunburst
osteogenic sarcoma Vs. Ewing sarcoma x-rays
osteogenic --> sclerotic destruction seen as sunburst lesion
Ewing --> lytic lesion with laminar periosteal elevation seen as onion skin lesion
cystitis presentation
dysuria, urgency, frequency, suprapubic pain, no fever
pyelonephritis presentation
abdominal or flank pain, fever, malaise, nausea, vomit, diarrhea
asymptomatic bacteriuria presentation
positive urine culture without signs or symptoms
urinary tract infection diagnosis
urine culture from midstream collection shows >100,000 colonies or >10,000 if symptomatic
if not toilet trained then suprapubic or catheter collection
urinary tract infection treatment
cystitis --> amoxi, TMP-SMX or nitrafurantoin
pyelonephritis --> IV ceftriaxone OR ampicillin + gentamicin
urinary tract infection follow-up
urine culture 1 week after stopping antibiotics
ultrasound if there was fever for anatomy, abscess or hydronephrosis
obtain voiding cystourethrogram
vesicoureteral reflux etiology
abnormal backflow of urine from bladder to kidney when submucosal tunnel between mucosa and detrusor is absent
predisposes to pyelonephritis --> scarring --> reflux nephropathy --> proteinuria --> hypertension --> ESRD
vesicoureteral reflux diagnosis
VCUG for diagnosis and grading
renal scan for size and scanning; if scar --> follow creatinine
vesicoureteral reflux treatment
continous antibiotic prophylaxis
surgery if breakthrough UTI, new scars, failure to resolve
obstructive uropathy presentation
upper abdominal or flank pain
failure to thrive
obstructive uropathy diagnosis
palpable abdominal mass in newborn --> hydronephrosis or PCKD
can be diagnosed prenatally with ultrasound
obtain VCUG in all cases of congenital hydronephrosis
obstructive uropathy treatment
void bladder with catheter
IV antibiotics
surgical correction
acute poststrep GN presentation
1-2 weeks after GAS throat infection or 3-6 weeks after GAS skin infection
flank pain
poststrep GN diagnosis
urinalysis --> RBC casts, proteinuria
low C3
best single test is anti-DNAse antigen OR positive throat culture OR increasing antibody titter
poststrep GN treatment
penicillin X 10 days
sodium restriction and diuresis
control hypertension with CCB, or ACEI
complete recovery in 95%
IgA nephropathy
most common chronic glomerular disease worldwide
hematuria + URI + proteinuria + hypertension
normal C3
treat blood pressure most importatnly
Alport syndrome
X-linked dominant nephritis
intermittent gross hematuria 1-2 days after URI
hearing deficits
ocular abnormalities (protrusion of lens into anterior chamber)
hemolytic uremic syndrome presentation
bloody diarrhea 5-10 days after infection
microangiopathic hemolytic anemia
hemolytic uremic syndrome treatment
manage fluids and electrolytes
treat hypertension
total parenteral nutrition
early peritoneal dialysis
if O157:H7 is suspected NO ANTIBIOTICS
infantile polycystic kidney disease presentation
autosomal recessive
bilateral kidney enlargement with multiple cysts
may have Potter sequence
renal failure
infantile polycystic kidney disease diagnosis
bilateral flank masses in ultrasound in infant with pulmonary hypoplasia
diseases with nephrotic syndrome
minimal change disease
membranous nephropathy
membranoproliferative nephropathy
nephrotic syndrome
massive proteinuria
minimal change disease diagnosis
hypoalbuminemia <2.5 g/dL
biopsy if hematuria, hypertension, heart failure or no response to treatment after 8 weeks
minimal change disease treatment
prednisone 4-6 weeks than taper out for 2-3 months
if severe --> albumin infusion + diuretic
minimal change disease complications
infections to pneumococcus and varicella
spontaneous bacterial peritonitis
undescended testes
should descend by 6 months
surgical correction to avoid seminoma
testicular torsion
acute testicular pain and swelling with tenderness to palpation
diagnosis --> Doppler
treatment --> emergency surgery
undescended testes Vs. refractile testes
refractile --> brisk cremasteric reflex in 1 y/o but can manipulate back into scrotum
undescended usually in the inguinal canal
torsion of appendix testes
gradual onset testicular pain in 2-11 y/o which naturally resolves in 3-10 days
diagnosis --> blue dot seen through scrotal skin; ultrasound if uncertain
ascending retrograde urethral infection with acute scrotal pain and swelling in adolescents
diagnosis --> pyuria in urinalysis
treat with bedrest and antibiotics
abnormal dilation of pampiniform plexus presents with painless paratesticular mass
surgery if significant difference in size of testes, pain or if contralateral testis is diseased or absent
testicular tumors
palpable painless mass that does not transilluminate; 65% malignant
diagnosis --> ultrasound, serum AFP and beta-hCG
treatment --> radical orchiectomy
apgar score
heart rate
reflex irritability
routine newborn care
cleanse and rinse
bacterocidal agent to cord
1% silver nitrate or 0.5% erythromycin for eyes
1mg vitamin K IM
birth injuries
subconjunctival hemorrhage
skull fracture
brachial palsy
clavicular fracture
facial nerve palsy
caput succedaneum
subcutaneous fat necrosis
subconjunctival hemorrhage
from sudden increase in intrathoracic pressure passing through canal; resolves spontaneously
skull fractures of newborn
linear --> most common; no symptoms nor treatment needed
depressed --> elevate to prevent cortical injuries
basilar --> fatal
brachial palsy
Erb-Duchene --> C5-C6; no sholder abduction, external rotation or supination of arm
Klumpke --> C7/C8 +- T1; paralyzed hand +- Horner syndrome
most will recover
clavicular fracture
from shoulder dystocia in vertex position and arm in extension in breech; palpable callus within a week; immobilization
facial nerve palsy
from forceps or pressure during delivery; improves over week or neuroplasty
caput succedaneum
diffuse edematous swelling of scalp which crosses suture lines; spontaneously dissapears
diffuse edematous swelling of scalp which does not cross suture lines; spontaneously dissapears
subcutaneous fat necrosis
difficult labor/delivery, perinatal asphixia, prolonged hypothermia; hypocalcemia
cutis marmorata
lacy, reticulated vascular pattern over skin on most of the body; improves but may be associated with syndromes
firm white papules, inclusion cyst and Epstein pearls on palate midlines; resolves
salmon patch
nevus simplex; pale pink vascular macules usually symmetric; facial ones dissapear
mongolian spots
blue to slate-gray macules on presacral, back or posterior thighs; improves; differentiate from child abuse
erythema toxicum
firm yellow-white papules/pustules with erythematous base; self-limited; differentiate from SSSS
port-wine stain
vascular malformation, permanent, unilateral; rule out Sturge-Weber; laser treatment
superficial --> bright red protuberant sharply demarcated; involutes in years
deep --> bluish hue firm cystic; may persist; check internal organs; laser therapy
neonatal acne
erythematous papules on face from high maternal androgens; no treatment
preauricular tags/pits
may indicate hearing loss and GU anomalies
nevus sebaceous
area of alopecia with nodular orange skin; possible malignancy; remove before adolescence
coloboma of iris
cleft at six-o-clock position; most have other eye anomalies; CHARGE association
hypoplasia of iris; associated with Wilms tumor
brachial cleft cyst
mass on lateral neck; infections are common; surgical removal
thyroglosal duct cyst
mass on neck midline; moves with swallowing
congenital torticollis
knotted-up sternocleidomastoid; treat with passive ROM exercises
breast hypertrophy
common; should be symmetric; otherwise may be absecess or mastitis
suppernumerary nipples
usually along mammary gland; associated with renal and cardiovascular anomalies
Poland syndrome
amastia, pectoralis muscle aplasia, rib deformities, webbed fingers, radial nerve aplasia
pectus excavatum/carinatum
usually benign; correction for cosmetic reasons
diaphramagmatic hernia
scaphoid abdomen and bowel sounds in chest
sac covered protrusion through umbilicus; associated with malformations and chromosome disorders
umbilical hernia
most close spontaneously; consider congenital hypothyroidism
uncovered protrusion lateral to abdominal midline; may have intestinal atresia
abdominal masses in newborn
polycystic kidney disease, hydronephrosis, enlarged bladder
transitory; palpation and illumination of testes diffrentiated from inguinal hernia
urethral opening on ventral surface of penis
urethral opening on dorsal surface
undescended testes
usually in inguinal canal; differentiate from retractile testes; if not descended by one year then surgical removal to avoid sterility and malignancy
hernias in newborn
usually inguinal and indirect; surgical treatment
fusion of fingers or toes; get x-ray first for surgical planning
> 5 fingers; no treatment needed if good blood supply
newborn screening
do before discharge or fourth day
more realiable after 48 hours
examples: phenylketonuria, galactosemia, hypothyroidism
phenylalanine hydroxylase deficiency with excess phe; mental retardation, vomiting, abnormal movements, fair hari skin blue eyes, normal at birth; treatment is phenylalanine restriction for life
G-1-P uridyltransferase deficiency; jaundice, hypoglycemia, catarracts, mental retardation, e. coli sepsis; restric lactose
intrauterine growth restriction
symmetric --> genetic syndromes, chromosomal abnormalities, congenital infections, teratogens
assymetric --> uteroplacental insufficiency due to maternal diseases; placental dysfunction
infants of diabetic mothers
fetal hyperinsulinemia --> hypoglycemia
large for gestational age and plethoric
cardiomegaly - assymetric septal hypertrophy
birth trauma - macrosomia
renal vein thrombosis
causes of respiratory distress in newborn
respiratory distress syndrome
transient tachypnea of the newborn
meconium aspiration
diaphragmatic hernia
respiratory distress syndrome of newborn presentation
due to surfactant deficiency in premature
tachypnea, nasal flaring, grunting
hypoxemia, hypercabia and respiratory acidosis
respiratory distress syndrome of newborn diagnosis
initial diagnostic test --> chest x-ray (ground glass appearance, atelectasis, air bronchograms)
most accurate test --> L/S ratio (done on amniotic fluid prior to birth)
respiratory distress syndrome of newborn treatment
best initial treatment --> oxygen + nasal continuous positive airway pressure
most effective treatment --> exogenous surfactant administration

prevention --> avoid prematurity with tocolysis
antenatal betamethasone
transient tachypnea of newborn
due to slow absorption of lung fluid with increased dead space
presents with tachypnea after birth
do chest x-ray (air trapping, fluid in fissures, perihilar streaking
improves within hours to days
meconium aspiration presentation
meconium passes as result of fetal hypoxia and distress
severe respiratory distress
barrel chest
meconium aspiration diagnosis
chest x-ray --> patchy infiltrates, increased AP diameter, flattening of diaphragm
meconium aspiration complications
aspiration pneumonitis
pulmonary artery hypertension
meconium aspiration treatment and prevention
treatment --> positive pressure ventilation, high frequency ventilation, nitric oxide, extracorporeal membrane oxygenation
prevention --> endotracheal intubation and airway suction of depressed infants with thick meconium
diaphragmatic hernia
abdominal content into thorax causes pulmonary hypoplasia
respiratory distress
scaphoid abdomen
bowel sounds in chest
bowel in chest seen in x-ray
diagnosis --> prenatal ultrasound
treatment --> immediate intubation and surgical correction
meconium plugs
seen in IODM, Hirchsprung, cystic fibrosis, maternal drug abuse
meconium ileus
mostly in cystic fibrosis
abdominal distention, vomitting, perforation, no passage of meconium within 24-48 hours
first test --> abdominal x-ray shows distention of bowel loops
treatment --> high gastrografin enemas
tracheoesophageal fistula
coughing choking or gagging with first feeding
respiratory distress
aspiration pneumonia
mostly proximal esophageal atresia and distal fistula with air in stomach
necrotizing enterocolitis
transmural intestinal necrosis associated with prematurity
bloody stools, apnea, lethargy, abdominal distention
pneumatosis intestinalis on abdominal x-ray is pathognomonic
Hirchsprung disease
initial test --> barium enema shws megaacolon proximal to aganglionic segment
best test --> rectal biopsy shows absent ganglionic cells
duodenal atresia
bilious vomiting from first feeding
abdominal x-ray shows double bubble sign
surgical correction
unconjugated bilirubin in basal ganglia and brain stem nuclei
delayed motor skills
sensorineural hearing loss
physiologic Vs. pathologic jaundice
physiologic --> 2-3 day of life, dissapears by 5th, peak bilirubin 10-12mg/dL, rate of rise <5mg/dL/day
pathologic --> appears in 1st 24 hours, variable dissapearance, unlimited bilirubin, rate of rise > 5mg/dL/day
jaundice work-up in newborn
1) determine if it's physiologic or pathologic
2) determine if it's direct or indirect
3) if indirect --> Coombs test; if negative -->
4) determine hemoglobin levels
indirect hyperbilirubinemia, Coombs test +
Rh/ABO incompatibility
thalassemia minor
indirect hyperbilirubinemia, Coombs test -, high hb
twin-twin transfusion
maternal-fetal transfusion
delayed cord
infant of diabetic mother
indirect hyperbilirubinemia, Coombs test -, low hb
G6PD deficiency
pyruvate kinase
direct hyperbilirubinemia causes
total parenteral nutrition
cystic fibrosis
choledochal cyst
treatment of hyperbilirubinemia
phototherapy (complications are loose stools, rash, overheating, dehydration, bronze baby)
if phototherapy is not enough --> double volume exchange transfusion
Crigler-Najjar type I
glucoronyl transferase deficiency leads to unconjugated hyperbilirubinemia
rapid rise in indirect bilirubin >20mg/dL, no hemolysis, kernicterus
Dx --> closed liver bipsy to measure glucoronyl transferase
Tx --> intensive phototherapy and exchange transfusions
Crigler-Najjar type II
partial glucoronyl transferase deficiency leads to unconjugated hyperbilirubinemia
milder than type I with no kernicterus
Tx --> phenobarbital
Gilbert syndrome
unconjugated hyperbilirubinemia
low glucoronyl transferase levels
benign, no treatment necessary
conjugated bilirubin cant get out of liver
mild disease detected in adolescence
Rotor syndrome
conjugated bilirubin can't get out of liver
mild disease detected in adolescence
neonatal sepsis presentation
poor feeding
bulging fontanel
delayed capillary filling
neonatal sepsis risk factors
intrapartum fever
maternal leukocytosis
prolonged rupture of membranes
neonatal sepsis bugs
group B strep
E. coli
neonatal sepsis work-up and diagnosis
blood culture
urine culture
chest x-ray
if meningitis is suspected --> lumbar puncture
neonatal sepsis treatment
if no meningitis --> ampicillin + aminoglycoside
if meningitis --> ampicillin + 3rd gen ceph (except ceftriaxone)
toxoplasmosis congenital infection
usually in cat feces or undercooked raw meat
generalized intracranial calcifications
visual impairments

treat mother with spiramycin
treat baby with sulfonamide for 6 months
congenital rubella
blueberry muffin spots
pulmonary artery stenosis
congenital hearing loss
cytomegalovirus neonatal infection
periventricular calcifications
sensorineural hearing loss
neonatal herpes
disseminated --> pneumonia, shock, hepatitis
skin, eyes, mouth --> keratoconjunctivits
CNS --> meningitis, lethargy, seizures
outcomes --> deafness, blindness, microcephaly, seizures

diagnosis --> PCR + Tzanck smear culture
treatment acyclovir
congenital syphilis
before 2 --> fever, anemia, rash, jaundice, anemia
after 2 --> Hutchinson teeth, Clutton joints, saber shins, saddle nose, osteochondritis, rhagades
diagnosis --> radiographic bone changes, treponema in scrapings from lesions; most specific --> FTA-ABS
treatment --> penicillin
TORCH work-up if suspected
total cord IgM
urine CMV culture --> if negative, excludes CMV
IgM --> toxoplasmosis, rubella
maternal rubella status --> if positive, excludes it
PCR --> for herpes
neonatal seizures causes
hypoxic ischemic encephalopathy --> cerebral palsy
intraventricular hemorrhage --> preterm
metabolic --> IODM, inborn errors of metabolism, DiGeorge
infection --> TORCH, maternal fever, sepsis/meningitis
neonatal seizures work-up
EEG --> may be normal
CBC, electrolytes, glucose
if meningitis --> lumbar puncture
if infection --> blood and urine cultures
if preterm --> ultrasound of the head for intraventricular hemorrhage
neonatal seizures presentation
chewing, tongue thrusting, apnea, staring, blinking, color changes, desaturation
live atttenuated vaccines
viral --> MMR, varicella, yellow fever, nasal influenza
bacterial --> BCG, oral typhoid, smallpox
killed virus vaccines
polio, rabies, hepatitis A
subunit vaccines
hepatitis B
parenteral influenza
acellular pertussis
polysacchride vaccines
Hib, pneumococcal, meningococcal
unknown immunization status
when in doubt, initiate immunizations
need formal immunizations record to be documented
active immunization if recently given gammaglobulin
live virus vaccines have decreased immunogenicity when given shortly after Ig
wait 3 months
vaccine safety evidence
MMR vaccine does not cause autism or IBD
multiple immunizations don’t increase risk of diabetes or immune dysfunction
no causal relationship between hepB vaccine and demyelinating disorders
no relationship between meningococcal vaccine and Guillain-Barre
misconceptions about vaccine contraindications
immunize in spite of:

fever <105 with reaction to previous DPT
mild acute illness
concurrent antibacterials
family history of seizures
family history of infant death syndrome
vaccines in immunocompromised
do not give live vaccines
preterm infant vaccinations
immunize at chronological age
do not reduce dosage
precautions to vaccinations
if fever is moderate to severe --> vaccinate later
egg allergy is not contraindication to MMR
egg allergy may rarely produce type I reaction after influenza vacccine (contains egg proteins)
hypersensitivity reactions with vaccines
influenza --> egg hypersensitivity
IPV and MMR --> neomycin and streptomycin
postexposure measles immunization
if 0-6 months --> do nothing unless mother is not immune (give Ig only)
if 6-12 months --> Ig + vaccine
if >12 months --> vaccine only within 72 hours of exposure
postexposure varicella immunization
give vaccine and Ig to unvaccinated contacts
postexposure hepatitis B immunization
hepB Ig + vaccine
repeat vaccine at 1 and 6 months
hepatitis B vaccination
1-2 months
6-18 months
catch up 1 dose --> 19 months - 4-6 years
vaccines given at 2, 4, 6 months
boosters at 15-18 months
vaccines at 12 months
Hepatitis A
boosters at 4-6 years
influenza vaccine
given from 6 months through ages 4-6
bossters at 15 years
vaccines given at 11-12 years
DPT booster
HPV (3 doses)
rotavirus vaccine
2, 4, 6 months
DPT vaccine
5 doses
2, 4, 6 months; 15-18 months; 11-12 years
Hib vaccine
2, 4, 6 months; 12-15 months
give 1 catch up dose if not vaccinated and < 5 years old
PCV vaccine
2, 4, 6 months; 12-15 months
if high risk group --> give 23-valent from 2-18 years
IPV vaccine
2, 4 and 6-18 months
booster at 4-6 years
catch up series up to 18 years old
MMR vaccine
12-15 months
4-6 years
catch up series 7-18 years
varicella vaccine
12-15 months
4-6 years
catch up series 7-18 years
HPV vaccine
3 doses between 11-12 years
catch up up to 18 years old
MCV4 vaccine
11-12 years
body weight in infants and children
newborn looses 10% of BW in 1st week
newborn regains or surpasses BW in two weeks
30g/d first month
20g/d at 3-4 months
BW is doubled by 6 months and triples by 1 year
between 6-12 - 3-6 growth spurts; myelination complete by 7
breast feeding contraindications
CMV, HSV (if lesions on breast)
HBV (before vaccination)
acute maternal disease
breast cancer
substance abuse
not contraindicated in mastitis
absolute drug contraindications for breast feeding
ergot alkaloids
relative drug contraindications for breast feeding
formula feeding
do not give cow milk before 1 year
can develop iron deficiency anemia with cow milk
solid foods in infant
2 months --> breast or formula milk
4-6mo --> iron fortified cereals
6-7mo --> strained vegetables and fruits, unsweetened fruit juice, avoid orange juice
6-8mo --> plain yogurst, cottage cheese, egg yolk, strained meats
7-9mo --> soft meats, poultry, mashed fruits and vegetables, cheese, cereals
8-10mo --> soft finger foods
9-12mo --> regular table foods
12mo --> whole eggs, orange juice, cow milk
foods to avoid in first year
egg whites
wheat products
normal --> ideal, genetic short stature
abnormal --> genetic, chromosomal, endocrine related
normal --> constitutional delay
abnormal --> chronic systemic disease, endocrine related
normal --> obesity
abnormal --> precosious puberty, congenital adrenal hyperplasia, hyperthyroidism
pathologic short stature
start out in normal range but then abnormal
suspect Turner if female
suspect cranipharyngioma if vision problems
also hypopituitarism, hypothyroidism
failure to thrive
malnutrition --> malabsorption (infection, celiac, CF, protein-loosing enteropathy); allergies; immunodeficiency; chronic disease
initial tests --> CBC, urinalysis, liver function tests, serum protein, sweat chloride, stool for ova, document caloric intake
nonorganic failure to thrive presentation
thin extremities, prominent ribs
neglect of hygine
delays in social and speech development
avoidance of eye contact, expressionless, no cuddling response
feeding aversions
nonorganic failure to thrive causes
not fed adequeately
emotional and maternal deprivation
psychosocial deprivation is most common cause
retarded or emotionally disturbed parents, poverty
nonorganic failure to thrive diagnosis
feed under supervision (hospitalization if necessary) for 1 week
should gain >2oz/day
monitor or videotape mother
nonorganic failure to thrive management
underfeeding from maternal neglect --> must report to CPS
infants discharged need intensive long-term intervention
obesity in children risk factors
parental obesity
overfeeding baby
obesity in children presentation
tall stature
abdominal striae
early puberty
increased adipose in mammary in boys
obesity in children diagnosis
obesity --> BMI > 95% (BMI > 30)
overweight --> BMI 85-95% (BMI 25-30)
obesity in children complications
increased risk of obesity in adulthood
slipped capital femoral epithesis
sleep panea
type 2 diabetes
obesity in children treatment
exercise and balanced diet
no medications
protein/energy malnutrition
formerly Kwashiorkor
inadequeate caloric intake + severe protein deficiency
sparse hair
decreased subcutaneous tissue
decreased muscle tone
Kwashiorkor Vs marasmus
Kwashiorkor --> generalized edema
marasmus --> distended abdomen
vitamin A
function --> retinal pigments, bone and teeth, epithelial maturation
manifestations --> ocular lesions, dry scaly skin, anemia, retardation, growth retardation
coencyme in carbs metabolism, generates NADP
manifestations --> beriberi, peripheral neuritis, CHF, ptosis, ataxia, nerve paralysis
functions --> energy production, general growth, tissue maintenance
manifestations --> glositis, keratitis, conjunctivits, photophobia, seborrhea
functions --> glycolysis, electron transport
manifestations --> pellagra (dermatitis, diarrhea, dementia), depression
functions --> CNS function, amino acid metabolism
manifestations --> convulsionsipheral neuritis, dermatitis, anemia
vitamin C
functions --> enzymatic reactions, collagen synthesis
manifestations --> scurvy, costochondral rosary
vitamin D
deficiency --> rickets (osteomalacia, tetany)
alpha tocopherol
functions --> nucleic acid metabolism
manifestations --> creatinuria, striated muscle necrosis
vitamin K
functions --> oxydative phosphorylation, clotting factors
manifestations --> hemorrhage
skill areas in development
mental retardation definition
IQ <70-75 + related limitation in at least two adaptive skills
predisposed by --> retardation, lack of care and neglect
more common in autism and low socioeconomic status
leads to lead poisoning, iron deficiency and parasites
bedwetting after 5 years
primary -->no significant dry period due to hyposecretion of ADH and very deep sleep
secondary --> after a period of >6 monts dry due to disease; may need urinalysis and ultrasonography
2/3 of cases are retentive
diagnose with hard stool on rectal; if negative --> abdominal x-ray
first step --> clear impacted feces; short term mineral oil and laxatives; behavioral changes and therapy
sleep walking and terrors
during first third of night in slow-wave sleep
no daytime sleepiness or recall
common family history
treat with reassurance and take safety precautions
during last third of night in REM sleep
daytime sleepiness and vivid recall
if recurrent --> investigate possible abuse or anxiety disorder
autistic disorder
qualitative impairment in verbal and nonverbal communication and social interactions
failure to attach as infant
delayed/absent social smile
failure to anticipate interactions
outbursts of anger
solitary play
possible retardation
diagnosis --> clinical
treatment --> behavioral therapy and specialized education
asperger disorder
impairment in social interactions
repetitive behaviors
idiosyncratic interests
no language impairment as in autism
treatment --> group social skills trainning
Rett syndrome
X-linked dominant, affects mostly girls
normal development until age 1-2 then regression of language and motor skills
loss of purposeful hand movements
excessive sighing
autistic behavior
sudden death from status epilepticus
poor impulse control
motor overactivity
symptoms interfere with child's functioning in two or more settings
symptoms present before 7 years old
diagnosis of exclusion --> chronic illness, substance abuse, sleep disorders, adjustment disorder
behavioral scales are good but not enough for diagnosis
treatment --> 1st stimulants +- clonidine; 2nd bupropion; atomoxetine
types of abuse
physical --> intentional injuries, fractures, bruises, burns
psychological --> terrorizing, putting down, comparing, insulting
types of neglect
physical --> food, clothing, schooling, medical care, safety
psychological --> love, support, stimulation, recognition
most common cause of underweight infant
nutritional neglect; 50% of all cases of failure to thrive
when to suspect physical abuse
injury is unexplained or implausable
injury is incompatible with the history or development of child
delay in seeking medical care
how to document suspected physical abuse
take photographs
include color chart
include scale
battered child syndrome
bruises, scars, internal organ damage and fractures
bruises in physical abuse
usually in buttocks, genitals, back, back of hands, thoraco-abdominal
symmetrical or geometrical shape
bruises in different stages are incompatible with single event
fractures in physical abuse
highly specific --> rib fracures in infants, fractures at different stages, bilateral, complex skull fractures
burns in physical abuse
cigarette burns --> circular, punched-out of uniform size
immersion burns --> glove-stocking pattern of extremity, demarcation is uniform, no splash burns
haed trauma in physical abuse
consider when infant presents with coma, convulsions, apnea or increased ICP
subdural hematoma with no scalp marks or skull fracture
retinal hemorrhages
obtain head CT and eye exam
lab studies if physical abuse is suspected
PT, PTT, platelets, bleeding time
skeletal survey if <2y/o
if severely injured --> head CT +- MRI + opthalmic exam
if abdominal trauma --> urine and stool for blood, liver and pancreatic enzymes, abdominal CT
physical abuse first step in management
prompt medical, surgical or psychological treatment
reporting to CPS
report any child suspected of abuse or neglect
meet with case worker
law enforcement forensics and criminal prosecution
initial phone report then written report within 48 hours
when to hospitalize physical abused child
medical condition requests it
diagnosis is unclear
no alternative safe place
if parents refuse hospitalization or treatment --> get emergency court order
what to explain to parents of abused child
why an inflicted wound is suspected
that physician is obligated to report
report is to protect the child
the family will be provided services
that a CPS worker and law enforcement officer will be involved
Munchausen syndrome by proxy definition
parent fabricates or induces illness in child
usually a healthcare worker or model parent
Munchausen syndrome by proxy presentation
symptoms not compatible with any specific disease
presentation varies --> diarrhea/laxatives; rash/caustic substances; seizures/insulin
Munchausen syndrome by proxy diagnosis
if high suspicion --> don’t perform any tests
examine all specimens
review old medical records including siblings
if necessary, hidden camera
Munchausen syndrome by proxy management
confront parent after confirmation and offer help
report to CPS
protect siblings
Down syndrome
trisomy 21
upward slanting palpebral fissures
speckled iris (Brushfeld spots)
inner epicantal fold
simian crese
duodenal atresia
increased cardiovascular disease, ALL, early Alzheimer
Edwards syndrome
low-set malformed ears
clenched fists
rocker-bottom feet
most die in first year
Patau syndrome
trisomy 13
holoprsencephaly + CNS defects
cleft lip/palate
scalp defects
deletion of 11p13
Wilms tumor + aniridia + GU anomalies + retardation
decreased upper:lower segment ratio with long limbs
small stature female
gonadal dysgenesis (not evident in childhood)
low IQ
congenital lymphedema
broad chest and widely spaced nipples
webbed neck
horseshoe kidney
bicuspid aortic valve
fragile X syndrome
CGG repeat on chromosome X
mild o profound mental retardation
large ears
Beckwith-Wiedemann syndrome
pancreatic beta cell hyperplasia --> hypoglycemia
fetal adrenocortical cytomegaly
linear fissures in lobule of external ear
management --> ultrasound and serum AFP every 6 months until 6y/o looking for WIlms tumor and hepatoblastoma
Prader-Willi syndrome
paternal 15q deletion
food-related behavioral problems
small hands and feet
maternal 15q deletion
severe retardation
inappropriate laughter
absent speech
puppet gait (ataxia, jerky arm movements)
Robin sequence
cleft soft palate
watch out for airway obstruction
Waardenburg syndrome
lateral displacement of inner canthi with short palpebral fissures
partial albinism
AD 90% from new gene mutation for fibroblast growth factor receptor 3
short stature
megalocephaly, small foramen magnum (hydrocephalus), short cranial base and prominent forehead
lumbar lordosis
normal intelligence
small eustachian tube with otitis media and hearing loss
AD mutation in fibrillin gene with variability
tall stature, long limbs
joint laxity with kyphoscoliosis
lens subluxation (suspensory ligament)
ascending aortic dilation with or without aneurysm
Ehlers-Danlos syndrome
droopy ears
hyperextensible skin with easy bruisability, poor wound healing
joint hyperlaxity (dislocations)
aortic root dilation
aneurysms (aortic, cranial)
blue sclera
ectopia lentis
osteogenesis imperfecta
decreased synthesis of procollagen
growth deficiency
hypoplasia of dentin and pulp --> translucent teeth
blue sclera
bowing of limbs
scoliosis, kyphosis
hyperextensible joints
hearing impairment secondary to otosclerosis
fetal alcohol syndrome
growth deficiency
behavioral abnormalities
joint abnormalities
fetal hydantoin syndrome
similar to carbamazepine
cupid's bow lips
fetal valproate syndrome
midface hypoplasia
cardiac defects
cleft lip
retinoic acid embryopathy
bilateral anotia
facial nerve paralysis
truncal malformations
CNS malformations
females on isotretinoin
pregnancy screening
one definitive method of birth control
back-up method of birth control
Potter sequence
renal agenesis --> oligohydramnios --> fetal compression --> pulmonary hypoplasia
Potter facies
death from respiratory insufficiency
screen parents with ultrasound because 9% have asymptomatic malformations
Williams syndrome
friendly, talkative personality
hoarse voice
elfin facies with prominent lips and open mouth
supravalvular aortis stenosis
renal artery stenosis with hypertension
Noonan syndrome
short stature
short webbed neck
pectus excavatum
pulmonary valvular stenosis
VACTERL association
Vertebral defects
Anal atresia
Cardiac defects (VSD)
TE fistula
esophageal atresia
renal defects
limb defetcs
CHARGE association
Heart defects (TOF, PDA)
Atresia choanae
Retardation of growth
Genital hypoplasia
Ear abnormalities/deafness
prune belly syndrome
95% males
GU defects
absence of anterior abdominal wall muscles
AD, 50% spontaneous mutations
pigmentation and polyps
colored spots on lips, oral mucous membranes and periorally
polyps in jejunum, nasopharynx and bladder
clubbing of fingers
multiple lentigines syndrome
EKG abnormalities
Ocular hypertelorism
Pulmonary stenosis
Abnormalities of genitalia (hypogonadism, cryptorchidism)
Retardation of growth
white patches of brown discoloration from high fluoride content of water, swallowed toothpaste, tetracyclines if given from 7 months gestation to 7 years
delayed eruption of primary teeth
hypothyroidism, hypopituitarism, trisomy 21, rickets
acute causes of diarrhea
in infants, children and adolescents MCC are gastroenteritisand systemic infection
chronic causes of diarrhea in infants
postinfectious lactase deficiency
milk/soy intolerance
chronic diarrhea of infancy
celiac disease
cystic fibrosis
chronic causes of diarrhea in children
postinfectious lactase deficiency
irritable bowel syndrome
Celiac disease
lactose intolerance
chronic causes of diarrhea in adolescents
irritable bowel syndrome
lactose intolerance
bacterial causes of diarrhea
enteroinvasive E. coli
E. coli 0157:H7
viral causes of diarrhea
Norwalk agent
parasitic causes of diarrhea
entamoeba histolytica
acute diarrhea presentation
diarrhea, vomiting, abdominal cramps, nausea, fever
management of acute diarrhea
proper hydration
antidiarrheals are never used in children
acute diarrhea diagnosis
stool exam
mucus, blood, leukocytes --> colitis
if blood and leukocytes or suspected HUS --> stool culture
if recent antibiotics --> C. difficile
ova and parasites
immunoassays for viruses
presentation of chronic diarrhea
weight, height and nutritional status is normal
if carbs present in diarrhea --> carb malabsorbtion
if fat present in stools and weight loss --> fat malabsorption
workup for chronic diarrhea
hyistory and physical
stool --> pH, reducing substances, fat, leukocytes, toxin, ova, parasites
blood studies --> CBC, differential, ESR, electrolytes, glucose, BUN, creatinine
sweat test + 72-hour fecal fat
diarrhea management
most need supportive therapy only
if HUS suspected --> no antibiotics
for entamoeba and giardia --> metronidazole
Schwachman-Diamond syndrome
pancreatic insuficiency
intestinal lymphagiectasia
lymph fluid leaks into bowel lumen
protein-loosing enteropathy
disaccaridase deficiency
osmotic diarrhea
acidic stools
severe fat malasbsorption from birth
very low to absent plasma cholesterol and triglycerides
fat malabsorption screening
most common in pancreatic insuficiency and CF
fat in stools with Sudan stain
confirm with 72-hour fecal fat in stools
if positive --> sweat test
serum trypsinogen is also good screen
carbohydrate malabsorption screening
measure reducing substances in stools
breath hydrogen test after carb load
protein loss malabsorption screening
spot stool alpha-1-antitrypsin levels
serum Fe, folate, Ca, Zn, Mg, B12, D, A
differential diagnosis of malabsorption
HIV or congenital T/B cell deficiencies
small bowel --> gluten enteropathy, abetalipoproteinemia, lymphangiectasia
pancreatic insuficiency
short bowel
celiac disease presentation
failure to thrive
growth retardation
all from hypersensitivity to gluten, rye, wheat, barley
celiac disease diagnosis and treatment
antiendomysial and antigliadin antibodies
biopsy to confirm is mandatory
treat with gluten-free diet
VACTERL association
Vertebral anomalies
Anal atresia
Cardiac defects
TracheoEsophageal fistula
Renal anomalies
Limb anomalies
tracheoesopahgeal fistula presentation
cough, cyanosis, respiratory distress, bubbling, regurgitation and aspiration in first feed
tracheoesophageal fistula diagnosis
inability to pass nasogastric tube
x-ray shows tube coiled with air-distended stomach
for isolated TE fistula --> esophagogram with contrast media or endoscopy
GERD presentation
postprandial regurgitation
feeding aversion
obstructive apnea, cough, wheezing
GERD diagnosis
most by history and physical
best test --> lowes esophagus pH
barium esophagogram and upper GI studies
endoscopy if erosive
GERD treatment
prokinetic agents have no efficacy in children
first line drugs --> H2 antagonists (ranitidine)
second line --> proton pump inhibitors
surgery if refractory
GERD differential diagnosis
milk/food allergy
pyloric stenosis
intestinal obstruction
pyloric stenosis presentation
nonbilous projectile vomitingbefore 5 months of life
palpation of firm 2cm nonmovable olive-shpaed mass in epigastrium
pyloric stenosis diagnosis and treatment
best test is ultrasound
treat with liquid and electrolyte correction then surgery
duodenal atresia presentation
bilous vomiting without abdominal distention on first day of life (there's distention in ileal or jejunal atresia)
polyhydramnios prenatally
duodenal atresia diagnosis and treatment
x-ray --> double bubble with no distal bowel gas
do x-ray of spine and ultrasound for other associated anomalies
treat with nasogastric decompression, IV fluids, surgery
malrotation and volvulus presentation
acute or chronic obstruction with bilous emesis and recurrent abdominal pain in first year of life
malrotation and volvulus diagnosis
ultrasound or contrast x-ray
Meckel diverticulum
acid-secreting mucosa causes intermittent painless rectal bleeding; may have anemia, obstruction or diverticulitis
diagnosis --> Meckel radionucleotide scan
treat with surgery
intussusception presentation
sudden onset of severe paroxysmal colicky abdominal pain
progressive weakness
shock and fever
bile vomit
intussusception diagnosis
x-ray --> increased density; look for perforation
air enema is diagnostic and curative
intussusception treatment
emergent reduction with fluoroscopy
if shock or peritoneal signs --> surgery
causes of GI bleeding
anal fissure
accidental swalloing of maternal blood
peptic ulcer disease
Crohn disease presentation
persistent fever of unknown origin
weight loss, growth retardation
episodes of abdominal pain and bloody diarrhea
anywhere in GI tract
perianal abscess and fistulas
Crohn diagnosis
high ESR
small bowel obstruction on x-ray
string sign and skip lesions on upper GI study
cobblestoning of mucosa
gold standard is colonoscopy and biopsy
Crohn treatment
azathioprine and metronidazole for fistulas
infliximab and anti-TNF drugs
surgery if drug failure
Crohn differential diagnosis
infectious enteropathy
recurrent abdominal pain
ulcerative colitis presentation
involves only colon
bloody diarrhea with mucus
abdominal pain and tenesmus
anemia, leukocytosis, fever and tachycardia vary according to severity
ulcerative colitis diagnosis
diagnosis of exclusion with symptoms present at least 3-4 weeks
endoscopy with biopsy is best test
ulcerative colitis treatment
symptomatic relief
aminosalicylates and sulfasalazine
anti-TNF agents (infliximab)
surgery if medical failure
ulcerative colitis complications
higher risk of colon cancer
toxic megacolon with perforation
Crohn Vs. UC
Crohn --> perinanal disease, mouth ulcers, strictures, fissures, fistulas,skip lesions, transmural, granulomas
UC --> bloody diarrhea, toxic megacolon, crypt abscess
full-term infant with delay in passage of meconium > 48 hours
diagnosis --> rectal manometry + biopsy
treatment --> surgery
functional constipation Vs. Hirchsprung
functional constipation --> after 2 years, no abdominal distention, stool in ampulla, relaxation of sphincter in manometry
Hirchsprung --> at birth, abdominal distention, no stool in ampulla, no relaxation of internal sphincter in manometry
Wilms tumor
GU malformations
abnormalities of pupils and iris
coloboma of iris --> keyhole appearance of iris; cleft lid
leukocoria --> retinoblastoma, cataract, retinopathy and detachment
cataracts etiology
AD inheritance
TORCH (especially rubella but also measles, polio, influenza, varicella_
ectopia lentis
instability or displacement of lens
differential --> trauma, uveitis, congenital galucoma, cataract, aniridia, tumor
systemic causes --> Marfan, homocystinuria, Ehlers-Danlos
diagnosis --> Hircschberg corneal light reflex
physiologic up to 4 months of age
opthalmia neonatorum presentation
redness, chemosis, edema of eyelids, purulent discharge
opthalmia neonatorum causes
chemical --> first 24 hours from silver nitrate or erythromycin
gonorrhea --> 1st week; complications are corneal ulceration, perforation
chlamydia --> 1st 2 weeks; MCC; cornea rarely affected
opthalmia noenatorum diagnosis
gram stain and culture
tarsal scraping for Giemsa stain
PCR for chlamydia
opthalmia neonatorum treatment
gonorrhea --> IM ceftriaxone + saline irrigation
chlamydia --> erythromycin PO X 2 weeks + irrigation
congenital nasolacrimal duct obstruction
excessive tears, mucoid material, erythema
treatment --> nasolacrimal massage; resolves in 1 year
red eye differential diagnosis
bacterial (with mucopurulent discharge) pneumococcus, H. influenza, staph, strep
viral --> watery bilateral discharge with URI; adenovirus, enterovirus
foreign bodies
anterior uveitis
periorbital Vs. orbital celulitis
dacrocystitis Vs. dacroadenitis
retinopathy of prematurity
prematurity, hyperoxia, vasoproliferative scarring, retinal detachment
treatment --> cryosurgery or laser photocoagulation
leukocoria, strabismus
diagnosis --> confirm with CT; no biopsy
treatment --> consider enucleation; also radiation, chemo, laser, cryo
corneal abrasions
pain, tearing, photophobia, decreased vision
diagnosis --> anesthesia + fluorescein and Wood's lamp
treatment --> pain relief and topical antibiotics
periorbital celulitis
lids and periorbital tissue inflammation due to trauma, infected wound, absecess, URI, bacteremia, sinusitis
presents with erythema, edema, intact ocular movements
treatment --> oral or IV antibiotics
orbital celulitis
erythema, edema + opthalmoplegia due to trauma, infected wound, absecess, URI, bacteremia, sinusitis
diagnosis --> CT scan of head
treatment --> IV antibiotics +- drainage
otitis externa
normal flora --> pseudomonas, staph
presents with pain, conductive hearinng loss, edema, erythema, thick otorrhea
treatment --> topical otic preparations (cipro, neomycin)
if malignant --> invasion of bones, facial paralysis, vertigo; immediate culture, IV antibiotics + CT +- surgery
otitis media
etiology --> pneumococus, nontypable H influenza, moraxella
presentation --> ear pain, fever, otorrhea, changes in tympanic membrane
treatment --> first line amoxicillin; alternative azythromycin; 2nd line amoxi/clavulanic, cefuroxime, IM ceftriaxone; else tympanoscentesis
otitis media with effusion
fullness is absent or TM is retracted with little erythema
antibiotics not recommended
treatment --> tympanostomy
acute mastoiditis
complicationof otitis media with effusion
displacement of pinna and pain on percussion of mastoid process
CT scan
myringotomy + IV antibiotics
acquired cholesteatoma
complication of otitis media with effusion or chronic otitis media
bonr resorption intracrannially is life threatening
CT scan of temporal bone
tympanomastoid surgery
sign: purulent otorrhea
otitis externa
otitis media with perforation
drainage from tympanostomy
sign: bulging tympanic membrane
otitis media
sign: tympanic membrane retraction
otitis media with effusion
sign: bubbles or air-fluid level behind tympanic membrane
otitis media with effusion
choanal atresia presentation
unilateral or bilateral bony or membranous septum between nose and pharynx
associated with CHARGE (50%)
unilateral --> asymtomatic until first URI then persistent nasal discharge with obstruction
bilateral --> cyanosis while trying to breathe through nose then pink with crying
choanal atresia diagnosis and treatment
inability to pass catheter 3-4cm into nasopharynx
fiberoptic rhinoscopy
CT scan
treat --> airway (possible intubation) + transnasal stents
CHARGE association
Heart defects
Atresia choana
Retarded growth and development
Genital anomalies
Ear anomalies
nasal foreign body
unilateral purulent, malodorous bloody discharge
diagnosis with speculum, otoscope or lateral x-ray
epistaxis differential diagnosis
digital trauma
dry air
nasal steroid sprays
clotting disorders
epistaxis treatment
1) compression; else -->
2) local oxymetazolone or phenylephrine; else -->
3) anterior or posterior nasal packing; else -->
4) cautery
benign pedunculated tumors from chronically inflamed mucosa
MCC is cystic fibrosis; suspect in any child <12 with polyp even in absence of other symptoms
presents with obstruction, hyponasal speech, mucopurulent rinorrhea
treatment --> intranasal steroids +- surgical removal
viral Vs. bacterial pharyngitis
age --> <5, >10 viral; 5-10 bacterial
onset --> viral is gradual, bacterial is acute
URI --> viral has it; bacterial doesn't
rash and exudate --> bacterial is common; viral uncommon
ulcers --> common in viral
culture --> positive in bacterial
conjunctivitis --> in viral
petechiae --> bacterial
GAS pharyngitis presentation
rapid onset severe sore throat and fever
red pharynx
tonsilar enlargement with exudate
palatal petechia
strawberry tongue
red swollen uvula large and tender anterior cervical nodes
scarlet fever presentation
GAS pharyngitis + sandpaper rash
viral pharyngitis presentation
adenovirus --> pharyngoconjunctival fever
coxsackie --> herpangina (vesicles and ulcers on posterior pharynx), hand-foot-mouth disease (vesicles)
GAS pharingytis diagnosis and treatment
initial test --> rapid strep test; if negative --> culture if high suspicion
treatment --> prevents rheumatic fever if within 9 days; penicillin or if allergic erythromycin
GAS pharyngitis complications
retropharyngeal absecess (bulging of posterior or lateral pharyngeal wall with neck stiffness and pain); surgical drainage
peritonsilar absecess (asymetric tonsilar bulge with displacement of uvula); needle aspiration, drainage, tonsillectomy
causes of cervical lymphadenitis
infections --> viral/bacterial pharyngitis, cat scratch disease, TB, mumps, thyroglossal duct cyst, brachial cleft cyst
cystic hygroma
indications of tonsillectomy
increasing frequency of infections
5/year for 2 years
3/year for 3 years
unilateral enlarged tonsil
indications for adenoidectomy
chronic nasal/sinus infection
recurrent/chronic otitis media
nasal obstruction with chronic mouth-breathing and loud snoring
obstructive sleep apnea presentation
mouth breathing and snoring
frequent awakenings
daytome somnolence
poor school performance
obstructive sleep apnea diagnosis
lateral soft-tissue x-ray
polycythemia, compensated chronic respiratory acidosis
obstructive sleep apnea treatment
depends on etiology
weight loss for obesity
adenotonsillectomy if upper airway obstruction
continuous positive airway obstruction
hypopituitarism etiology
acquired --> radiation therapy (ALL), hypothalamic pituitary stalk or anterior pituitary lesions (craniopharymgioma), other tumors, TB, sarcoidosis, trauma, anoxia
congenital hypopituitarism presentation
normal size and weight at birth followed by severe growth failure in first year
neonatal emergencies (apnea, hypoglycemic seizures)
dysmorphic features and pudgy appearance
acquired hypopituitarism presentation
gradual and progressive
weight loss
cold sensitivity
mental stupor
no sexual maturation
decreased growth
diabetes insipidus
hypopituitarism diagnosis
screening --> low IGF-1 and IGF-BP3
definitive --> GH stimulation test
MRI --> indicated in all patients with hypopituitarism
other tests --> TSH/T4, ACTH, cortisol DHEA-S, gonadotropins
x-ray --> destructive lesions are seen as erosions and calcifications
bone age --> skeletal maturation markedly delayed (75% of CA)
hypopituitarism differential diagnosis
systemic conditions
constitutional delay
genetic short stature
primary hypothyroidism
emotional deprivation
hypopituitarism treatment
if classic GH deficiency --> weekly recombinant GH
need periodic thyroid evaluation
indications of growth hormone therapy
documented GH deficiency
end-stage renal disease before transplant
IUGR without catch-up growth by 2 years
tall stature differential diagnosis
familial tall stature (MCC)
fetal overgrowth --> infant of diabetic mother, Beckwith-Wiedmann, cerebral gigantism
postnatal --> exogenous obesity, excess GH, precocious puberty, Marfan, hyperthyroidism
hyperpituitarism etiology
primary --> adenomas (rare)
secondary --> deficiencies of target organ, excessive prolactin (MCC) and GH secretion
hyperpituitarism diagnosis
screening --> IGF-1 and IGF-BP3
confirmation --> glucose suppression test
all patients need MRI of pituitary
chromosome testing for XXY and fragile X
thyroid tests
hyperpituitarism management
treat only if prediction of adult height > 3 SD above mean or evidence of severe psychosocial impairment
trial of sex steroids to accelerate puberty and closure of epiphyseal plates
precocious puberty definition
girls --> sexual development before 8
boys --> sexual development before 9
precocious puberty presentation
advanced height, weight and bone age with early epiphyseal closure
precocious puberty diagnosis
screening --> significant increase in LH
definitive --> GnRH stimulation test (IV GnRH with increase in LH)
if positive --> MRI
congenital hypothyroidism etiology
most are primary
thyroid dysgenesis
defect in thyroid hormone synthesis
transient neonatal hypothyroidism (resolves by 3 months)
transplacental passage of maternal thyrotropin
central hypopituitarism
exposure to radioiodine, iodine, antithyroid drugs
congenital hypothyroidism presentation
prolonged jaundice
umbilical hernia
mental retardation
developmental retardation
wide anterior and posterior fontanels
open mouth
congenital hypothyroidism diagnosis and treatment
diagnosis --> low T4 with high TSH
treat --> sodium thyroxine
acquired hypothyroidism etiology
iatrogenic --> medications, radiation, surgery)
systemic diseases --> cystinosis, histiocytosis
acquired hypothyroidism presentation
usually in adolescence
deceleration of growth
cold intolerance
incresed sleep
delayed puberty
acquired hypothyroidism diagnosis and treatment
diagnosis --> low T4 with high TSH
treat --> sodium thyroxine
autoimmune polyglandular disease type I
mucocutaneous candidiasis
autoimmune thyroiditis
autoimmune polyglandular disease type II
Schmidt syndrome
Addison + type I diabetes +- thyroiditis
hyperthyroidism presentation
gradual onset of:
exopthalmus (lymphocytic infiltration of retro-orbital tissue
lymphadenopathy and splenomegaly
thymic hyperplasia
emotional lability and motor hyperactivity
decreased school performance
increased apetitie with weight loss
tachycardia, arrhythmias, palpitations
thyroid storm --> acute onset hyperthermia, severe tachycardia, restlessness to coma
hyperthyroidism diagnosis
high T4 + low TSH
anti-peroxidase antibodies
anti-TSH receptor antibodies
hyperthyroidism treatment
PTU or methimazole
beta blocker for acute symptoms
if medical treatment fails --> radioablation or surgery + thyroid replacement
hypoparathyroidism etiology
parathyroid aplasia or hypoplasia --> DiGeorge
X-linked recessive --> embryogenesis defect
AD --> mutation in calcium-sensing recptor
thyroid surgery
polyglandular disease
hypoparathyroidism presentation
muscle pain, cramps, numbness
laryngeal and carpopedal spasm
hypocalcemic seizures
hypoparathyroidism diagnosis
low serum calcium
increased serum phosphorus
low alkaline phosphatase
low calcitriol
low PTH
QT prolongation
hypoparathyroidsm treatment
emergency for neonatal tetany --> IV 10% calcium gluconate + 1,25OH D3
maintainance treatment --> calcitriol + adequate calcium intake
hypoparathyroidism differential diagnosis
magnesium deficiency
inorganic phosphorus poisoning
ALL chemo
21 hydroxylase deficiency presentation
weight loss
in females --> masculinization (high androgens)
21 hydroxylase deficiency diagnosis
increased 17-OH progesterone
high renin
low aldosterone
definitive test --> 17-OH progesterone measurement after ACTH bolus (ACTH stimulation test)
21 hydroxylase deficiency treatment
hydrocortisone + fludrocortisone
corrective surgery for females
congenital adrenal hyperplasia causes
21 hydroxylase deficiency
11 beta hydroxylase deficiency
17 alpha hydroxylase deficiency
3 beta hydroxysteroid deficiency
3 beta hydroxysteroid deficiency
male and female pseudohermaphroditism
postnatal virilization
precocious pubarche
increased 17-OH pregnenolone and DHEA
11-beta-hydroxylase deficiency
female pseudohermaphroditism
postnatal virilization
hypertension from high corticosterone
high androgens
17-OH deficiency
male pseudohermaphroditism
hypertension from high deoxycorticosterone
Cushing syndrome etiology
exogenous glucocorticoid administration (MCC)
adrenocortical tumor
pituitary adenoma --> Cushing disease
Cushing syndrome presentation
moon facies
truncal obesity
impaired growth
delayed puberty and amenorrhea
osteoporosis with pathologic fractures
Cushing syndrome diagnosis
initial test: 1mg overnight dexamethasone suppression test; if abnormal or false+ -->
24-hour urine free cortisol; if normal, exclude Cushing, if abnormal Cushing syndrome diagnosis

high dose dexamethasone suppression --> if supression to <50% of control then pituitary adenoma
if no response --> ACTH-producing tumor or adrenal hyperplasia --> ACTH level
if high, then it's ACTH-producing tumor (do chest CT)
if low it's adrenal hyperplasia --> urinary 17KS, DHEA-S, abdominal CT
if high and >4cm mass then its adrenal CA
if normal or <4cm mass then adrenal adenoma
Cushing syndrome treatment
remove tumor or adrenals
type I diabetes etiology
T-cell mediated destruction of islet cells, insulin autoantibodies, glutamic acid decarboxylase
type I diabetes pathophysiology
hyperglycemia --> osmotic diuresis and glycosuria
loss of fluids, electrolytes and calories
accelerated lipolysis --> increased fatty acids --> ketone bodies --> metabolic acidosis and Kusmaul respiration --> coma
type I diabetes presenattion
weight loss
20-40% present with diabetic ketoacidosis
type I diabetes diagnosis
impaired glucose test --> fasting glucose > 110-126mg/dL OR glucose 125-200mg/dL after 2 hours on glucose tolerance test
diabetes --> symptoms + 2 fasting glucose > 126mg/dL OR 2-hour OGTT > 200mg/dL
diabetic ketoacidosis --> hyperglycemia, ketonuria, increased anion gap metabolic acidosis, hyperosmolarity
type I diabetes treatment
insulin + diet modification + exercise
type 2 diabetes
most common cause is childhood obesity
insidious onset of weight gain, fatigue, glycosuria and acanthosis nigrans
innocent murmurs
are physiologic from 3-7 years
2/6 grade
never diastolic
lower left sternum
diseases associated with VSDs
Eisenmenger syndrome
any untreated left to right shunt becomes right to left
results from high pulmonary blood flow with hypertrophy of pulmonary vessels and increased pulmonary resistance
VSD presentation
if large --> dyspnea, feeding difficulties, poor growth, sweating, pulmonary infection, heart failure, harsh holosystolic murmur
VSD diagnosis
chest x-ray
echocardiogram is definitive
VSD treatment
small muscular more likely to close in 1-2 years than membranous
if larger --> medical treatment for heart failure
indications for surgery in 1st year --> failure to thrive or failed medical treatment; pulmonary artery hypertension
ASD presentation
loud S1
wide fixed splitting of S2
systolic ejection murmur along left mid to upper sternum
ASD diagnosis
chest x-ray --> right enlargement, increased pulmonary vessel markings, edema
ECG --> right axis deviation and minor right ventricular conduction delays
echo is definitive
ASD treatment
most close spontaneously
symptoms do not appear until third decade
surgery or transcatheter device closure for all symptomatic patients or 2:1 shunt
endocardial cushion defects pathophsysiology
ASD and VSD are contiguous with abnormal AV valves
endocardial cushion defects presentation
heart failure early in infancy (hepatomegaly and failure to thrive)
Eisenmenger early
heart hypertrophy
loud S1, widely fixed split S2
pulmonary systolic ejection murmurand low-pitched diastolic rumble at left sternal border and apex
endocardial cushion defects diagnosis
chest x-ray --> cardiomegaly
ECG --> biventricular hypertrophy, right atrial enlargement, superior QRS axis
echo is definitive
endocardial cushion defects treatment
perform surgical correction in infancy
PDA presentation
small --> asymptomatic
large --> heart failure, wide pulse pressure, bounding arterial pulses, machinery murmur
PDA diagnosis
chest x-ray --> increased pulmonary artery and cardiomegaly
ECG --> left ventricular and biventricular hypertrophy
echo --> increased left atrium to aortic root
PDA treatment
indomethacin or surgery
syndromes with pulmonic stenosis
Noonan syndrome --> AD; Turner phenotype + pulmonic stenosis
Alagille syndrome --> arteriohepatic dysplasia
pulmonic stenosis presentation
heart failure in severe cases in first month of life
right ventricular failure (hepatomegaly, peripheral edema, exercise intolerance)
pulmonary ejection click after S1; this is heard less with increasing severity
pulmonic stenosis diagnosis
ECG --> right ventricular hypertrophy with tall spiked P waves
chest x-ray --> poststenotic dilation of pulmonary artery
echo --> best test
pulmonic stenosis treatment
balloon valvuloplasty
emergent surgery
aortic stenosis presentation
if severe --> left ventricular failure and decreased cardiac output
early systolic ejection murmur at apex; the more severe can hear it less
increasing severity --> decreased pulses, cardiomegaly, left ventricular apical thrust
aortic stenosis diagnosis
ECG --> left ventricular hypertrophy
chest x-ray --> prominent ascending aorta
aortic stenosis treatment
balloon valvuloplasty
valve surgery
valve replacement
cardiac associations in Turner
preductal coarctation of the aorta and bicuspid aortic valve
adult-type coarctation of the aorta presentation
left ventricular hypertrophy
decreased blood pressure and pulses below constriction (femoral pulses weak or absent)
rib notching due to collateral circulation
infantile-type coarctation of the aorta presentation
PDA allows blood shunted to descending aorta
differential cyanosis of upper and lower body
severe heart failure if PDA closes
coarctation of the aorta diagnosis
chest x-ray --> infantile: cardiomegaly; adult: rib notching, poststenotic dilation of ascending aorta
ECG --> left ventricular hypertrophy in older children; right ventricular hypertrophy in neonates
coarctation of the aorta treatment
PGE1 to maintain PDA then surgeryin infantile type
treat heart failure and hypertension then surgery in adult-type
postoperative mesenteric arteritis
acute hypertension and abdominal pain with or without anorexia, vomitting, hemorrhage, bowel necrosis
treat with nitroprusside, esmolol or captopril with or without intestinal decompression
tetralogy of Fallot presentation
pulmonary stenosis
overriding aorta
right ventricular hypertrophy
dyspnea on exertion (squatting increases SVR and directs blood to lungs)
paroxysmal cyanotic attacks with gasping, restlessness and syncope
paroxysmal cyanotic attack treatment in TOF
lateral knee-chest position
subcutaneous morphine
beta blockers
TOF physical exam
systolic thrill along 3-4 intercostal space on left sternal border
loud systolic ejection murmur at upper sternal border
single S2 or soft pulmonic component
tetrallogy of Fallot diagnosis
x-ray --> boot-shaped heart (apex is lifted from diaphragm)
ECG --> right axis deviation plus right ventricular hypertrophy
echo is best test
tetrallogy of Fallot treatment
PGE infusion to promote PDA
palliative systemic to pulmonary shunt then corrective surgery later
tricuspid atresia pathophysiology
no tricuspid
blood passes to left heart via ASD then to right ventricle via VSD
pulmonary blood flow depends on size of VSD
tricuspid atresia presentation
severe cyanosis at birth
increased left ventricular impulse
tricuspid atresia diagnosis
x-ray --> pulmonary undercirculation
ECG --> left axis deviation and left ventricular hypertrophy
echo is best test
tricuspid atresia treatment
PGE until aortopulmonary shunt can be performed
atrial balloon septostomy
surgical correction later in infancy
Ebstein anomaly presentation
from maternal lithium use
downward displacement of abnormal tricuspid into ventricle with large right atrium, small right ventricle and ASD with shunt
can have severe cyanosis at birth, holosystolic murmur and cardiomegaly
Ebstein anomaly diagnosis
x-ray --> cardiomegaly
ECG --> tall and broad P waves, RBBB, prolonged PR interval
echo is gold standard
Ebstein anomaly treatment
systemic-pulmonary shunt
corrective surgery later
cyanotic cardiopathies with decreased pulmonary blood flow
tetrallogy of Fallot
tricuspid atresia
Ebstein anomaly
cyanotic cardiopathies with increased pulmonary blood flow
transposition of the great vessels
truncus arteriosus
transposition of great vessels presentation
needs foramen ovale and PDA
cyanosis as PDA closes
loud S2
transposition of great vessels diagnosis
x-ray --> cardiomegaly
ECG --> normal
echo is gold standard
transposition of great vessels treatment
balloon atrial septostomy
arterial switch surgery in first 2 weeks
truncus arteriosus presentation
minimal cyanosis due to high volume of pulmonary flow but can develop Eisenmenger
heart failure
truncus arteriosus diagnosis
x-ray --> cardiomegaly
ECG --> biventricular hypertrophy
echo --> gold standard
truncus arteriosus treatment
treat heart failure then surgery
total anomalous pulmonary venous return pathophysiology
drainage of pulmomary veins into systemic venous circulation
enlarged right atrium, right ventricle and pulmonary artery with small left heart
total anomalous pulmonary venous return presentation
if obstruction --> severe pulmonary venous congestion, pulmonary hypertension low cardiac output and shock; emergency surgery
no obstruction --> total mixing with left-right shunt; mild cyanosis
total anomalous pulmonary venous return diagnosis
chest x-ray --> snowman appearance
ECG --> right ventricular hypertrophy and tall spiked P waves
echo is gold standard
total anomalous pulmonary venous return treatment
PGE1 + surgery
hypoplastic left heart syndrome pathophysiology
atresia of mitral or aortic valves, left ventricle or ascending aorta --> right ventricle maintains pulmonary and systemic circulation --> pulmonary venous blood passes through ASD with systemic mixing --> ductus arteriosus supplies aorta and coronaries from retrograde flow
hypoplastic left heart syndrome presentation
heart failure +- shock
hypoplastic left heart syndrome diagnosis
x-ray --> cardiomegaly + increased pulmonary blood flow
ECG --> right ventricular hypertrophy and right atrial enlargement with decreased left-heart forces
echo is gold standard
hypoplastic left heart syndrome treatment
do nothing if associated malformations are incompatible with life or
surgical correction
pulmonary insufficiency
decrescendo diastolic murmur
expected result of surgery from right ventricular outflow obstructions
x-ray --> large pulmonary artery
ECG --> normal
echo is gold standard
mitral insufficiency presentation
increased left atrium, left hypertrophy with dilation, increased pulmonary venous pressure
high-pitched holosystolic murmur at apex
mitral insufficiency diagnosis
x-ray --> increased left atrial size
ECG --> left ventricular hypertrophy
echo is gold standard
mitral prolapse presentation
chest pain
apical late systolic murmur with pre-sistolic click
associated with Marfan
mitral prolapse diagnosis
x-ray --> normal
ECG --> may have biphasic T-waves
echo is gold standard
mitral prolapse treatment
no therapy necessary
if associated with mitral insuficiency --> endocarditis prophylaxis
tricuspid insufficiency
associated with Ebstein anomaly
right ventricular dysfunction
perinatal asphyxia in neonate
infective endocarditis etiology
staph if not valve problems
strep viridians if valve problems or dental procedures
group D strep after bowel or GU manipulation
coagulase negative staph after indwelling catheters
cardiac lesions that predispose to infective endocarditis
VSD, TOF, aortic stenosis, PDA
congenital bicuspid aortic valve, mitral prolapse
valve replacement
infective endocarditis presentation
prolonged intermittent fever
weight loss
new or changing murmur
embolic stroke
painful Osler nodes
painless Janeway lesions
splinter hemorrhages
roth retinal exudates
infective endocarditis diagnosis criteria
2 + 3 or 1 + 5
major --> positive blood culture (two separate); echocardiogram evidence
minor --> predisposing condition, fever, emboli, immune complex disease, single positive blood culture
endocarditis prophylaxis
dental/esophageal procedures --> amoxi
high risk GI or GU (prosthetic valves, previous endocarditis, heart disease, pulmonary shunts) --> ampi + gentamicin
moderate risk GI or GU(acquired valve disease, hypertrophic subaortic stenosis, mitral prolapse with regurgitation) --> amoxi or ampi
allergic --> clindamycin, ceph, macrolide
prophylaxis not recommended for infective endocarditis
ASD isolated secundum
surgical repair of ASD, VSD, PDA
coronary bypass
mitral prolapse without regurgitation or thick valves
theumatic fever without valve dysfunction
rheumatic fever presentation and diagnosis
microbiological or serologic evidence of GAS infection;
majora criteria --> carditis, migratory polyarthritis, erythema marginatum, Sydenhams chorea, subcutaneous nodules
minor criteria --> fever, arthralgia, high ESR, prolonged PR
rheumatic fever treatment
penicillin for GAS infection
antinflammatory --> once arthritis is confirmed to be migratory and no CHF give high dose aspirin
if CHF --> prednisone then taper and aspirin + digoxin
if chorea --> phenobarbital
if carditis --> IM benzathine penicillin monthly for life prophylaxis
causes of dilated cardiomyopathy
MCC idiopathic
nonviral infections
storage diseases
connective tissue disease
muscular dystrophies
dilated cardiomyopathy presentation
heart failure signs
decreased pulse pressure
pale skin
increased jugular venous pressure
gallop rhythm
AV valve insufficiency
dilated cardiomyopathy diagnosis
x-ray --> cardiomegaly, pulmonary congestion
ECG --> atrial enlargement, left/right ventricular enlargement
echo --> dilation
dilated cardiomyopathy prognosis
progressive worsening with relapses, emboli, ventricular arrhythmias
dilated cardiomyopathy treatment
implantable cardioverter/defibrillator
systemic anticoagulation
beta blocker
trial of carnitine
heart transplant referral
hypertrophic cardiomyopathy presentation
dyspnea on exertion
hypertrophic cardiomyopathy diagnosis
x-ray --> mild cardiomegaly
ECG --> left ventricular hypertrophy +- ST depression and T wave inversion
echo --> mostly septal left ventricular hypertrophy
hypertrophic cardiomyopathy treatment
no sports or streneous exercise
digoxin and diuretics are contraindicated
beta blockers or CCBs are indicated
restrictive cardiomyopathy presentation
increased venous pressure
pulmonary congestion
restrictive cardiomyopathy etiology
restrictive cardiomyopathy diagnosis
x-ray --> mild to moderate increase in heart size
ECG --> prominent P waves, low QRS voltage +- ST depression
echo --> increased atrial size, abnormal filling by Doppler
restrictive cardiomyopathy treatment
relieve heart failure
CCBs to increase filling
myocarditis etiology
MCC is coxsackie B and adenovirus
diptheria, Rocky Mountain
connective tissue disease
granulomatous disease
myocarditis presentation
left heart failure, arrhythmia, sudden death
fever, respiratory distress, shock, distant heart sounds mitral insuficiency, gallop
fever + cardiomegaly + arrhythmia
myocarditis diagnosis
supported by --> high ESR and CK-MB, may need biopsy during catheterizaation
x-ray --> cardiomegaly and pulmonary edema
ECG --> sinus tachycardia, decreased QRS voltage
echo --> poor ventricular function
endocardial fibroelastosis
bright endocardial surface on echo due to fibroelastic thickening in left ventricle and valves
presents with variable congestive heart failure
pericarditis etiology
MCC is viral: coxsackie B, adeno, influenza, echo
purulent --> bacteria
acute rheumatic fever
juvenile rheumatoid arthritis
neoplasia - Hodgkin, leukemia
cardiac tamponade
pulsus paradoxus (drop in BP > 20 during inspiration in child with pericarditis
pericarditis presentation
sharp stabbing precordial pain worsens in supine and better leaning forward
cough, dyspnea, abdominal pain, vomit
friction rub, muffled heart sounds
pericarditis diagnosis
x-ray --> water bottle appearance
ECG --> low voltage QRS, mildly elevated ST, generalized T-wave inversion
echo --> echo-free space between epicardium and pericardium
hypertension causes
most causes are renal
acute glomerulonephritis
acute tubular necrosis
renal artery stenosis
hypertension diagnosis
screen --> CBC, urinalysis, urine culture, electrolytes, glucose, BUN, creatinine, calcium, uric acid, lipids
echo to check if chronic (left hypertrophy)
renal ultrasound
allergic rhinitis presentation
nasal congestion and pruritus
worse at night with snoring
mouth breathing
watery itchy eyes
allergic shiners
conjunctival injection and chemosis
transverse nasal crease
pale nasal mucosa
allergic rhinitis differential diagnosis
nonallergic inflammatory rhinitis (no IgE)
vasomotor rhinitis (physical stimulus)
nasal polyps (CF)
overuse of topical vasoconstrictors
differential diagnosis of eosinophilia
allergic rhinitis diagnosis
peripheral and/or nasal/bronchial eosinophilia
high IgE
radioallergosorbent testing (RAST)
skin test
allergic rhinitis treatment
most effective --> removal of allergens
first line drugs --> antihistamines
2nd line --> add intranasal steroids
others --> cromolyn, phenylephrine, epinephrine
immunotherapy --> desensitization
allergic rhinitis complications
chronic sinusitis
eustachian tube obstruction (middle ear infections)
tonsil/adenoid hypertrophy
ocular allergy
itchy eyes, bilateral chemosis
may have atopic dermatitis, asthma, rhinitis
treatment --> first line: eyedrops, cold compress; 2nd line: antihistamine + vasoconstrictor combo
insect venom presentation
local swelling, urticaria, angioedema, pruritus, anaphylaxis
delayed response --> serum sickness, nephrotic syndrome, vasculitis
insect venom treatment
remove stingers by scraping
if anaphylaxis --> epi pen
indication for venom immunotherapy --> severe reaction with + skin tests
food allergy presentation
most common allergens --> egg, milk, peanuts, nuts, fish, soy, wheat
MCC of anaphylaxis
skin --> urticaria, angioedema, atopic dermatitis
GI --> vomit, diarrhea, pain, eosinophilic gastroenteritis
respiratory --> wheezing, asthma
CV --> hypotension
food allergy diagnosis and treatment
establish food and amount eaten, timing and nature of reaction
RAST skin test for IgE allergies
treatment --> elimination of food; epi pen for attack
urticaria and angioedema presentation
IgE-mediated --> activation of skin mast cells by systemically absorbed allergen
non-IgE-mediated with stimulation of mast cells --> radiocontrast agents, viral agents
hereditary angioedema --> AD, C1 esterase inhibitor deficiency, recurrent non-pitting edema
urticaria and angioedema diagnosis and treatment
diagnosis --> clinical; skin tests and RAST may help
treatment --> avoidance of trigger; epi + steroid; H1 + H2
atopic dermatitis presentation
intense pruritus with scratching, lesions and excoriations
acute --> erythematous intensely pruritic excoriations with serous exudate
subacute --> erythematous, excoriated, scaling papules
chronic --> lichenification
complication --> Kaposi varicelliform eruption
atopic dermatitis treatment
eliminate causative factors
cutaneous hydration with hydrophilic ointments/emollient + topical steroids (don’t use high potency on face)
topical immunomdulators --> tacrolimus (safe on face)
systemic --> antihistamines, glucocorticoids, cyclosporine, interferon gamma
contact dermatitis
type IV delayed reaction
diagnosis --> clinical
treatment --> supportive
initial screening for recurrent infections
manual differential
platelet count
screening for B-cell defects
Ig levels
isohemaglutinins (measures mostly IgM)
tetanus and diptheria IgG levels (response to protein antigens)
pneumococcus and H. Influenza IgG levels (response to polysacchride antigens)
T-cell defect screening
absolute lymhpcyte count
candida albicans intradermal skin test - best test
phagocytic defects screening
absolute neutrophil count
respiratory burst assay
complement deficiency screening
CH50 (total hemolytic complement) - measures any complement consumption
individual complement assays
associated infections to antibody deficiency
encapsulated bacteria
associated infections to phagocyte deficiency
recurrent catalase(+) infections (staph and others)
enteroviral infections to coxsackie A/B, echovirus
associated indections to T-cell deficiency
failure to thrive
associated infections to killing defects
recurrent staph abscess
gram- infections
definitive test for agammaglobulinemia
B-cell count by flow cytometry to CD19, CD20
definitive test for T-cell deficiency
T-cell count by flow cytometry to CD2, CD3, CD4, CD8
assess T-cell function with mitogen stimulation tests (measures cytokine production)
definitive test for phagocytic defects
neutrophil respiratory burst has replaced nitroblue tetrazolium
associated infections in complement deficiency
recurrent neisseria infections
defects in antibody production diseases
Bruton agammaglobulinemia
common variable immunodeficiency
selective IgA deficiency
transient hypogammaglobulinemia of infancy
IgG subclass deficiency
Bruton agammaglobulinemia
X-linked deficiency of Bruton tyrosine kinase
recurrent pneomococcus, H. influenza, mycoplasma hepatitis and enterovirus infections after 6-9 months in baby boys
lymphoid hypoplasia
decreased Igs
absence of circulating B-cells by flow cytometry
treat with monthly IVIg and antibiotics
common variable immunodeficiency
hypogammaglobulinemia with B-cells present
recurrent pneomococcus, H. influenza, mycoplasma hepatitis and enterovirus infections later in age in both sexes
normal lymphoid tissue
risk of lymphomas in 5th-6th decade
selective IgA deficiency
recurrent URIs
hiher incidence of autimmune disease and malignancies
serum antibodies to IgA (anphylactic reactions to IV IgA)
transient hypogammaglobulinemia of infancy
low IgGs at 3-4 months - physiologic
if persists > 6 months has disease but most normalize at 11 months
increased otitis media and sinusitis infections
igG sublass deficiency
normal or increased total IgG but deficiency of 1 or more classes
no IVIg needed
no development of 3rd and 4th pharyngeal pouches
absent thymus (no T-cells), parathyroids (seizures and tetany), aortic and cardiomyopathies (ASD, VSD)
widely spaced eyes, fish mouth, low set ears
low absolute lymphcyte count
opportunistic infections
treatment --> thymic tissue transplant from MHC-compatible sibling
CATCH-22 syndromes
chromosome 22 microdeletions
DiGeorge, velocardial-facial syndrome, conotruncal anomaly face syndrome
Cardiac, Abnormal faces, Thymic hypoplasia, Cleft palate, Hypocalcemia
severe combined immunodeficiency
X-linked or adenine deaminase defiency
diarrhea, pneumonia, otitis media, sepsis, cutaneous infections, wasting, opportunistic infections, lymphopenia, no mitogen response, no thymus or lymphoid tissue, no Igs
treatment --> bone marrow transplant or death by 1 year
Wiskott-Aldrich syndrome
low IgM
recurrent infections
T and B cell deficiencies
prolonged bleeding from circumcision is first sign
treat --> bone marrow transplant
decreased CD3 and CD4
mask-like facies, tics, drooling, irregular eye movements
progressive cerebellar ataxia from 6 months to wheelchair at 10-12 y/o
recurrent URIs
chronic granulomatous disease
X-linked and autosomal recessive
suspect if prolonged detachment of umbilical cord
can't kill catalase(+) (staph, aspergillus, candida, salmonella)
recurrent lymphadenitis, pneumonia, skin infections
osteomyelitisnitroblue tetrazolium test replaced by flow cytometry
treatment --> bone marrow transplant and daily TMP-SMZ
leukocyte adhesion deficiency
recurrent infections with chronic ulcers and no pus formation
diagnosis --> flow cytometry of surface CD11b
treatment --> bone marrow transplant
Chediak-Higashi syndrome
recurrent infections, bleeding, albinism
progressive peripheral neuropathy
diagnosis --> large inclusions seen in all nucleated RBCs
treatment --> high-dose ascorbate; cure --> bone marrow transplant
juvenile rheumatoid arthritis presentation
morning stiffness
easy fatigability
joint pain
joint swelling
warm joint but no redness
<16 years old
duration >= 6 weeks
3 types
juvenile rheumatoid arthritis differential
rheumatic fever
juvenile dermatomyositis
types of juvenile rheumatoid arthritis
pauciarticular --> fewer than 5 joints
polyarticular --> >5 joints, resembles adult
systemic --> hepatosplenomegaly, lymphadenopathy, serositis, iritis, temperature spikes, salmon-colored rash
juvenile rheumatoid arthritis diagnosis and labs
diagnosis of exclusion
ANAs may be present
RF(+) with polyarticular type
juvenile rheumatoid arthritis treatment
pauciarticular --> NSAIDs +- methotrexate, sulfazalazine, azathioprine, cyclophosphamide
steroids if overwhelming inflammation and systemic illness
opthalmologic follow-up
juvenile rheumatoid arthritis prognosis
RF(+) --> poor prognosis
ANA(+) --> good/excellent prognosis
pregnant woman with SLE
IgG are transferred transplacenta with permanent heart block in the fetus and other temporary findings
SLE presentation
usually after 8 years old
malar rash
discoid rash
neurologic, hematologic, immunologic and renal disorders
SLE labs
best screen --> ANA
best test --> anti-dsDNA (disease activity)
most specific --> anti-Smith
SLE treatment
NSAIDs if no renal disease
steroids for kidney disease
hydroxychloroquine for mild disease
cyclophosphamide for severe disease
kawasaki diagnostic criteria
fever > 5 days plus 4 -->
bilateral conjunctivitis
strawberry tongue
erythema and swelling of hands and feet
cervical lymphadenitis
kawasaki work-up
upon suspicion --> echo for coronary artery aneurysms
reapeat echo at 2-3 weeks and if normal at 6-8 weeks
CBC --> leukocytosis, thrombocytosis
urinalysis --> sterile pyuria
CSF pleocytosis
kawasaki treatment
high-dose aspirin
add warfarin if severe thrombocytosis
henoch-schonlein purpura
low-grade fever
rash below waist --> maculopapular --> petechiae --> purpura
GI pain, blood in stools, diarrhea, intuscuception
increased IgA
treatment --> symptomatic +- corticosteroids for GI +- aspirin APL antibodies
neural tube defects
spina bifida
tethered cord
spina bifida occulta
no protrussionof neural tissue
overlying patch of hair, lipoma, dermal sinus
meninges herniate through defect in posterior vertebral arches
fluctuant midline mass covered with skin
MRI and then CT of head for hydrocephalus
surgical correction
sacral lesions --> bowel/bladder incontinence, perineal anesthesia, no motor impairment
lumbar lesions --> flaccid paralysis, thermoalgesic loss, urinary dribbling
80% associated with hydrocephalus; type I Chiari
do MRI and CT of head for hydrocephalus
surgical correction
Chiari malformation
type I --> cerebral tonsils into cervical canal, no hydrocephalus, headache and neck pain, urinary frequency
type II --> progressive hydrocephalus + myelomeningocele
cystic expansion of fourth ventricle
agenesis of posterior cerebellar vermis
increased head size, prominent occiput, cerebellar ataxia
increased head circumference
bulging anterior fontanel
sixth nerve palsy
febrile seizures
when temperature increases rapidly >39 celsius
generalized tonic-clonic, ~10-15 minutes with brief postictal period
work-up --> determine cause of fever and rule out meningitis
no routine labs, no EEG, no neuroimaging
treatment --> control fevers
simple partial seizures
asynchronous tonic or clonic movements for 10-20 seconds; no postictal period
EEG --> spike and sharp waves or multifocal spikes
treatment --> carbamazepine, phenytoin; levetiracetam
partial complex seizures
tonic or clonic movements with impaired consciousness
automatisms --> lip-smacking, chewing, swallowing
interictal EEG --> anterior temporal lobe --> sharp waves, focal spikes
MRI --> abnormalities in temporal lobe
treatment --> carbamazapine
absence seizures
generalized; cessation of movement, speech and blank stare; no postictal period
EEG --> 3Hz spikes + generalized wave discharge
treatment --> ethosuximide, valproic acid
tonic clonic seizures
generalized; loss of consciousness, tongue bitting, relaxation of sphincters
postictal --> semicoma, disoriented, vomiting, headache
treatment --> valproic acid, phenobarbital, phenytoin, carbamazepine
neurofibromatosis 1
von Recklinghousen; chromosome 17
café-au-lait spots
iris Lisch nodules
axillary/inguinal freckles
optic glioma
neurofibromatosis 1 complications
cognitive defects
neurofibromatosis 2
chromosome 22
bilateral acoustic neuromas
hearing loss
associated neurofibroma, glioma, meningioma
tuberous sclerosis
CNS tubers in cerebral convolutions seen on CT
calcifications --> ventricular cavities --> hydrocephalus
infantile spasms
skin lesions
retinal lesions
heart rhabdomyoma
kidney hamartoma or polycystic kidneys
treat seizures
Sturge-Weber presentation
facial nevus
contralateral hemiparesis
intracranial calcifications
mental retardation
ipsilateral glaucoma
Sturge-Weber diagnosis
skull x-ray --> occipital-parietal calcifications
CT --> unilateral cortical atrophy and hydrocephalus ex-vacuo
increased intraocular pressure
Friedrich ataxia
autosomal recessive
ataxia before 10 years
no DTRs
loss of posterior columns
hypertrophic cardiomyopathy
Marie-Charcot-Tooth presentation
disease of peroneal and tibial nerves with peroneal muscle atrophy
foot drop
atrophy of muscles of anterior leg compartment
claw hand
slowly progressive
Marie-Charcot-Tooth diagnosis
decreased nerve conduction velocities
normal CPK
sural nerve biopsy is cofirmation
Marie-Charcot-Tooth treatment
stabilize ankles
surgical correction
iron-deficiency anemia
due to consumption of cow milk and foods low in iron
pallor is most common sign plus general anemia signs
treatment --> oral ferrous salts
prevention --> iron-rich foods
lead poisoning presentation
behavioral changes --> hyperactivity or aggresion
cognitive dysfunction
GI --> anorexia, pain, constipation
CNS --> cerebral edema, increased intracraneal pressure
lead poisoning diagnosis and treatment
blood lead level at 12 and 24 months
x-rays --> dense lead lines in bones
treatment --> iron chelators --> dimecarpol, EDTA
congenital anemias
pure red cell --> Blackfan-Diamond --> triphalangeal thumbs --> low reticulocytes --> steroids --> stem cell transplant
pancytopenia --> Fanconi --> absent/hypoplastic thumbs --> bone-marrow aspiration/chromosome analysis --> steroids/transplant
types of sickle cell crises
hand-foot syndrome
acute painful crisis --> head, chest, back, abdomen
aplastic crisis --> parvoB19 --> absence of reticulocytes
vaso-occlusive crisis --> skin ulcers, retinopathy, avascular necrosis of femoral head, splenic infarction, salmonella osteomyelitis, stroke, priapism
immune thrombocytopenic purpura treatment
transfussion contraindicated
if inadequate response --> prednisone
if severe --> splenectomy
ALL presentation
bone pain
marrow failure --> pallor, bruising, epistaxis, petechiae, lymphadenopathy, hepatosplenomegaly
ALL diagnosis
best test --> marrow aspirate --> lymphoblasts
peripheral blood --> anemia, thrombocytopenia, atypical lymphocytes
ALL treatment
remission induction --> vincristine, daunorubicin, prednisone
CNS --> methotrexate
ALL complications
relapse --> increased intracraneal pressure or branial nerve palsies
testicular relapse
tumor lysis syndrome --> hyperuricemia, hyperkalemia, hypophosphatemia, hypocalcemia
wilms tumor
palpable mass, aniridia, GU anomalies
diagnosis --> abdominal CT; chest x-ray for lung involvement
treatment --> surgery
from neural crest cells --> abdominal, adrenal or retroperitoneal
firm painful palpable mass in flank or midline with calcifications or hemorrhage
diagnosis --> x-ray/CT/MRI; high vanillylmandelic acid, homovanillic acid, no hypertension
treatment --> surgery +- chemo +- radiation
adrenal medulla or along sympathetic chain
autosomal dominant associated with --> neurofibromatosis, MEN 2A, MEN 2B, tuberous sclerosis, Sturge-Weber
presentation --> episodic hypertension, adrenergic signs, papilledema, hemorrhages
diagnosis --> CT; vanillmandelic acid, metanephrines, catecholamines; MBIG scan
treatment --> alpha/beta blockade + fluids --> surgery
meningitis etiology by age
neonates --> GBS, e coli, listeria
2 months - 12 years --> pneumococus, meningococus, HiB (uncommon due to vaccine)
meningitis presentation
fever, lethargy, irritability, anorexia, nausea
photophobia, neck pain and rigidity
increased intracraneal pressure --> bulging fontannelles, CN III or VI palsy
Kernig, Brudzinski
meningitis diagnosis
lumbar puncture + blood culture
meningitis treatment
empiric --> vanco + ceftriaxone
pneumococus --> penicillin or 3rd gen ceph
meningococus --> penicillin
E. coli --> ceftriaxone
IV dexamethasone
presentation --> paroxysmal cough with inspiratory whoop and facial petechiae
diagnosis --> clinical; unvaccinated; gold standard is culture or PCR; lymphocytosis
treatment --> erythromycin; also treat all household members and contacts
cat-scratch disease
scratch + papules + chronic regional lymphadenitis + nonspecific signs
diagnosis --> history, PCR, serology
treatment --> self-limiting
parinaud oculoglandular syndrome
unilateral conjunctivitis
preauricular lymphadenopathy
cervical lymphadenopathy
after rubbing eyes after touching pet
presentation --> cough, coryza, conjunctivitis, Koplik spots, rash, fever +- cervical lymphadenopathy
diagnosis --> clinical
treatment --> supportive, vitamin A
complications --> otitis media, pneumonia, encephalitis
maculopapular rash + posterior cervical lymphadenopathy +- polyarthritis
diagnosis --> clinical with serology confirmation
treatment --> supportive
exanthema subitum due to HHV-6
high fever preceeding rash + rose-colored papules on trunk + occipital lymphadenopathy
clinical diagnosis and supportive treatment
presentation --> unilateral or bilateral salivary gland swelling, arthritis, orchitis with sterility
diagnosis --> clinical; IgG and IgM confirms; high amylase
treatment --> supportive
presentation --> pruritic rash in various stages with crops
clinical diagnosis with supportive treatment
erythema infectiosum
presentation --> arthritis, slapped cheek rash, reticular rash
clinical diagnosis with supportive treatment
complications --> aplastic crisis; erythroblastosis fetalis in neonates
presentation --> fatigue, pharyngitis, generalized adenopathy, nonspecific symptoms, Burkitt lymphoma, nasopharyngeal carcinoma
diagnosis --> atypical lymphocytosis, heterophile antibodies, IgM to capsid antigen
treatment --> symptomatic +- steroids; no contact sports
complications --> splenic rupture
presentation --> coryza, conjunctivits, pharyngitis, dry cough, systemic signs
diagnosis --> rapid ELISA
treatment --> symptomatic
complications --> otitis media, pneumonia, secondary bacterial infection
presentation --> asymptomatic or cough and blood-stained sputum
diagnosis --> fecal smear and eosinophilia
treatment --> albendazole