Pediatrics Flashcards
Weight trends
infant loses up to 10% birth weight, regained by 2 weeks
birth weight doubled by 4 mo, tripled by 12 mo, quadrupled by 24 mo
Age 2-13 annual wt gain 5 pounds
Inadequate wt gain:
poor intact - feeding techniques, neglect
Vomiting - pyloric stenosis, reflux
Malabsorption
neoplasma
infection
congenital diseases - cardiac or endocrine
Failure to thrive - less than 2nd percentile or consistently low weight
Height trends
increases 50% at 1 yr, doubles by 4 y, triples by 13
Annual increase of 2 in from age 2-adolescence
Greater than normal height: familial tall stature precocious puberty gigantism - excessive GH hyperthyroidism Klinefelter syndrome, Marfan syndrome obesity
Lower than normal height: familial short stature constitutional growth delay neglect Turner syndrome chronic renal failure asthma, CF IBD immunologic disease GH deficiency hypothyroidism glucocorticoid excess skeletal dysplasias neoplasm
causes of macrocephaly
cerebral metabolic disease - Tay-Sachs, maple syrup urine disease
neurocutaneous syndromes - neurofibromatosis, tuberous sclerosis
hydrocephalus
increased ICP
Skeletal dysplasia
acromegaly
Intracranial hemorrhage
causes of microcephaly
fetal toxin exposure - fetal alcohol syndrome chromosomal trisomies congenital infection cranial anatomic abnormalities metabolic disorders neural tube defects
Car seats
under 2 - rear facing, middle back seat
2-5 - forward facing, harness as long as possible
5-12 - booster until seat belt fits properly - 4’9” between 8-12
Younger than 13 - back seat
APGAR score
Appearance: 0 blue, 1 acrocyanosis, 2 pink all over
Pulse: 0 absent, 1 less than 100, 2 over 100
Grimace: 0 absent, 1 grimace, 2 strong cry
Activity: 0 absent, 1 some movement, 2, vigorous movement
Respiration: 0 absent, 1 irregular, 2 regular
normal 7-10
abnormal - resuscitate
Calorie content per ounce of breastmilk vs formula
20 kcal/oz each
Caloric needs in infant less than 6 mo
100-120 kcal/kg/day
Single umbilical artery
get renal u/s - check for abnomalies
Anterior fontanelle closure
normal by 24 mo
Delayed consider: downs, achondroplasia, rickets, congenital hypothyroidism, increased ICP
Early - monitor head circumference for craniosynostosis
Craniotabes
soft occipital bone - like ping-pong ball
3-12 mo
highly suspicious for rickets
Signs of dehydration in child - mild
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
Infant - 5%; 50 ml/kg
Skin turgor - normal mucous membranes - moist Tears - present Fontanelle - flat CNS - consolable HR - normal Capillary refill - less than 2 sec Urine output - normal
Signs of dehydration in child - moderate
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
infant - 10%, 100 ml/kg
Skin turgor - tenting mucous membranes - dry Tears - reduced Fontanelle - soft CNS - irritable HR - mild increase Capillary refill - about 2 sec Urine output - decreased
Signs of dehydration in child - severe
Skin turgor mucous membranes Tears Fontanelle CNS HR Capillary refill Urine output
Infant - 15%, 150 ml/kg
Skin turgor - none mucous membranes - parched/cracked Tears - none Fontanelle - sunken CNS - lethargic HR - increased Capillary refill - >3 sec Urine output - anuric
Failure to thrive in under 2 yo
2nd percentile in weight or less on more than 1 measurement
weight less than 80% of ideal weight for sex and age
Weight crosses 2 major percentiles downward on growth chart over time
weight for length ratio less than 10th percentile
Rate of daily weight gain less than expected for age
tanner stages for penile/testicular development
(pubic hair in gyn lecture)
1- prepubertal
2 - testicular and scrotal growth with skin coarsening
3- penile enlargement and further testicular growth
4- further growth glans, and darkening of scrotal skin
5 -adult genitalia
Early adolescence (10-13) psychosocial development
concrete thinking and early independent behavior
Middle adolescence (14-16) psychosocial development
emergency of sexuality - identity, beginnings of sexual activity
increased desire for independence (conflict with parents, need for guidance, self absorption)
development of abstract thought
Late adolescence (17-21) psychosocial development
increased self-awareness, increased confidence in own abilities, more open relationship with parents, and cognitive maturity
Klinefelter syndrome
47, XXY Tall thin body Gynecomastia Testicular atrophy Infertility Mild retardation Psychosocial adjustment abilities
Turner syndrome
45, XO Web neck Low occipital hairline Short stature Infertile Streak ovaries Coarctation of aorta Horseshoe kidney
Most end in spontaneous abortion
Can have mosaicism (45, XO/46, XX)
Most common cause of primary amenorrhea
Tx:
Estrogen and progesterone
Growth hormone
Cardiac monitoring
Down syndrome
Trisomy 21
First trimester ultrasound: increased nuchal translucency
Quad screening: low AFP, high b-hCG, low Estriol, high inhibin A
Features:
Intellectual disability
Small ears, Flatnose, protruding tongue
Transverse Palmar crease - simian crease
Cervical spine instability
Increase space between first and second toes
Vision and hearing loss
duodenal atresia, Hirschsprung disease, annular pancreas, celiac disease
Alzheimer’s disease 3rd decade
Endocardial cushion defect, Tetralogy of Fallot, PDA
Associated with ALL “ALL fall DOWN”
Edward syndrome
Trisomy 18
Quad screening: low AFB, low b-hCG, low Estriol
Features: Severe intellectual disability hypertonia Micrognathia - small mouth, small jaw Overlapping flex fingers, rocker bottom feet PDA, VSD omphalocele, Meckel diverticulum
Usually miscarry in first trimester
Die within 2 weeks of life, possible to survive 1st year
Williams syndrome
Elfen type face - upward turn nose, Long philtrum
Mild retardation
Cheerful
Cardiac defects
Velocardiofacial Syndrome
del 22q11
DiGeorge Sn - T cell deficiency, hypocalcemia Cleft palate Truncus arteriosus, Tetralogy of Fallot Mild retardation Overbite Speech disorder
Patau syndrome
Trisomy 13
Severe intellectual disability Cleft lip and palate Rounded nose Polydactyly Cardiac and CNS defects
Angelman syndrome
mom Ch15
MR Seizures Ataxia Inappropriate laughter "happy puppet"
Prater Willi syndrome
dad Ch15
Hyperphagia -> obesity Short MR Tantrums, skin picking, OCD Hypogonadotropic hypogonadism Incomplete sexual development Osteoporosis - Child Delayed menarche
Cri-du-chat syndrome
Small head
Low birth weight
MR
FTT
High-pitched cat like cry
Fragile X syndrome
Trinucleotide repeat
MC cause of MR in men
MR Hyperactivity Seizures Large faced with prominent jaw Large ears Mild hand and foot abnormalities macroochidism
Tuberous sclerosis
Distinctive brown, fibrous plaque on the forehead in infancy
Ashleaf spots - wood’s lamp
Shagreen patch - leathery cutaneous thickening usually on the lower trunk
Facial angiofibromas - adenoma sebaceum
seizures
MR
Subependymal nodules in brain - distinguishes from neurofibromatosis
Fetal alcohol syndrome
short palpebral fissures
thin upper lip
Smooth philtrum
Flattened midface
Structural brain abnormalities
10th percentile or less for head circumference
Abnormal neurologic exam
Variable MR
10 percentile or less for height and weight
FTT despite adequate intake
Disproportionately low weight to height ratio
Branchial cleft cyst
Lateral neck
Does not move with swallowing
Thyroglossal duct cyst
Midline neck
Moves with swallowing
Most common neck cyst
Associated with ectopic thyroid tissue
Blood shunting in fetus
Ductus venosis
Foraman ovale
ductus arteriosis
path of highest O2 blood in fetus
umbilical v -> ductus venosis -> IVC -> right atrium
Patent ductus arteriosus
Risk factors: F>M Prematurity Congenital rebel infection Trisomy 21
Features:
May lead to heart failure ( tachypnea, respiratory distress, Poor feeding)
Continuous machinery like murmur
Wide pulse pressure and bounding pulses
Dx:
CXR: cardiomegaly
ECHO: shows defect, enlarged LA and LV
Tx:
Indomethacin
Surgical ligation
Atrial septal defect
left to right shunt
Risk factors:
Trisomy 21
Presentation: \+/- heart failure - SOB, FTT, cyanosis Eisenmenger syndrome -> cyanosis Fixed splitting of S2 \+/- midsystolic pulmonary flow murmur
Dx:
ECHO - shows defect, enlarged RA and RB
Tx:
Small: monitor for sxs
Large or HF/cyanosis - surgical repair
Ventricular septal defect
Left to right shunt
Risk factors:
Trisomy 21
presentation:
+/- heart failure - tachypnea, poor feeding, failure to thrive
Eisenmenger Sn -> cyanosis
Holosystolic murmur along LLSB
Dx: ECHO shows defect
Tx:
Diuretic (furosemide) +/- inotropic drug (dopamine)
large defect - repair
Eisenmenger sequence of events
left to right shunt
Pulmonary hypertension
RV hypertrophy
Right heart pressure exceeds left heart pressure -> reverse workflow across the defect
Deoxygenated blood enters the systemic circulation
-> cyanosis, dyspnea, digital clubbing
Coarctation of the aorta
Usually near the ductus arteriosus
Risk: Turner syndrome
Presentation:
high BP in the arms and low BP In the legs
Neonates may develop heart failure and shock when the ductus arteriosus closes
Dx:
CXR - notching of ribs
ECHO shows defect
Tx:
Prostaglandin E keeps the ductus open - avoid heart failure and cardiogenic shock
Surgical correction
Truncus arteriosus
Failure of truncus arteriosus to divide into the aorta and pulmonary trunk
-associated with a VSD
Features:
Neonatal cyanosis (immediately), tachypnea, respiratory distress
Poor feeding, FTT
Harsh systolic murmur at the LLSB (due to VSD)
DX: ECHO
Tx: repair
Transposition of the great vessels
RV empties into the aorta and the LV empties into the pulmonary trunk
-incompatible with life without ASD or VSD
Features:
Neonatal cyanosis and tachypnea
Murmur if VSD
ECHO
Tx:
Prostaglandin E - keeps ductus arteriosus patent
Balloon atrial septoplasty
Surgical repair
